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Sample records for amniocentesis

  1. Amniocentesis - slideshow

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/presentations/100192.htm Amniocentesis - series—Indication To use the sharing features on ... about 15 weeks pregnant, your doctor may offer amniocentesis. Amniocentesis is a test that detects or rules ...

  2. Amniocentesis

    Science.gov (United States)

    ... baby’s amniotic fluid for proteins like alpha fetoprotein (AFP). Measuring the amount of AFP can check if your baby has neural tube ... baby that becomes the brain and spinal cord. AFP levels are often higher if your baby has ...

  3. Amniocentesis

    Science.gov (United States)

    ... the baby, including: Anencephaly (when the baby is missing a large portion of the brain) Down syndrome Rare metabolic disorders that are passed down through families Other genetic problems, like trisomy 18

  4. Traumatic prenatal sigmoid perforation due to amniocentesis

    Energy Technology Data Exchange (ETDEWEB)

    Fines, B.; Ben-Ami, T.E.; Yousefzadeh, D.K. [Dept. of Radiology, Univ. of Chicago, IL (United States)

    2001-06-01

    A variety of fetal injuries, including those inflicted to the gastrointestinal tract by amniocentesis, have been reported before. This brief report describes the first documented case of sigmoid perforation owing to the common procedure of amniocentesis that manifested as abdominal distention at birth. A potential link between this complication and a recent increased incidence of ''intrauterine spontaneous perforation'' of the gastrointestinal tract has been mentioned. Practicing radiologists are encouraged to inquire directly about the history of amniocentesis in unexplained cases of intrauterine intestinal perforation. (orig.)

  5. Cutaneous foetal injuries related to amniocentesis.

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    Papi, L; Farusi, F; Teti, G; Dini, V; Romanelli, M

    2013-10-01

    Amniocentesis is one of the most important prenatal diagnostic procedures available to assess congenital abnormalities. It is performed worldwide due to its simplicity of execution and lack of risk. The most frequent known accidents in amniocentesis are abortion, oligohydramnios, amniositis and placental abruption, while direct fetal injuries produced by contact with the needle are rarely seen. The injuries produced are extremely variable in severity, but the most frequent is skin wounds, which usually heal as small, round depressed scars. The cases we describe concern the occurrence of iatrogenic cutaneous wound lesions to a fetus during amniocentesis. The medical-legal analysis of the cases required dermatological expertise in order to exclude a different pathogenesis for the skin injuries to the child and were assigned by the court, in order to assess the administrative compensation due to the parents of the child as a result of medical malpractice.

  6. 21 CFR 884.1550 - Amniotic fluid sampler (amniocentesis tray).

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Amniotic fluid sampler (amniocentesis tray). 884... Diagnostic Devices § 884.1550 Amniotic fluid sampler (amniocentesis tray). (a) Identification. The amniotic fluid sampler (amniocentesis tray) is a collection of devices used to aspirate amniotic fluid from...

  7. Pregnancy outcome following mid-trimester amniocentesis.

    Science.gov (United States)

    Corrado, F; Cannata, M L; La Galia, T; Magliarditi, M; Imbruglia, L; D'anna, R; Carlo Stella, N

    2012-02-01

    To determine the institutional pregnancy complications rate associated with genetic amniocentesis and ascertain whether procedural variables or pre-existing factors may determine an increased risk of having a procedural-related fetal loss, we retrospectively evaluated all the consecutive amniocentesis, with known pregnancy outcome (n = 2990), performed between January 2001 and December 2009 by two very experienced clinicians. The patients who had counselling in the same period but declined to undergo amniocentesis represent the control group (n = 487). A total of 30 fetal losses occurred within 24 weeks' gestation (1%), while in the control group, we had four losses (0.8%). Procedural variables (transplacental sample, multiple needle insertions and gestational age) were not found to be predictive of increased fetal loss rate. Previous vaginal bleeding increased the risk of pregnancy loss after amniocentesis with an OR 4.1 (95% CI 2.0-8.7); on the contrary, a history of two or more miscarriages is not associated with a greater fetal loss rate, while the increased percentage (OR 3.4, 95% CI 1.2-9.0) in patients affected by uterine myoma appears connected, after the comparison with the control group, with the presence of fibroids rather than procedure.

  8. Difficulties in establishing routine amniocentesis for preterm labor evaluation.

    Science.gov (United States)

    McIntosh, Jennifer J; McHugh, Katherine; Haas, David M

    2012-03-01

    After a recent practice change implementing amniocentesis into the evaluation of preterm labor (PTL) or preterm premature rupture of membranes (PPROM), actual performance of the procedure was tracked. Fifty-nine patients were admitted with these diagnoses. Twenty-three patients (39%) were offered amniocentesis and 36 patients (61%) were not offered amniocentesis as part of the clinical protocol. Seven (30%) patients of those offered an amniocentesis underwent the procedure. The predominant reasons for not performing an amniocentesis were patient refusal and provider discomfort. In conclusion, implementation of amniocentesis to evaluate for subclinical infection/inflammation in the setting of PTL or PPROM proved difficult, as only 7 of 59 (11.9%) patients admitted with these diagnoses actually received an amniocentesis.

  9. Recommendations for amniocentesis in HIV-positive women.

    Science.gov (United States)

    Constantatos, S N; Boutall, A H; Stewart, C J

    2014-12-01

    There is limited literature on the known risk of HIV transmission during amniocentesis. Before the introduction of highly active antiretroviral therapy (HAART), amniocentesis was avoided owing to the increased risk of HIV transmission. Recent literature suggests that it is safe to perform amniocentesis in women on HAART with undetectable viral loads. In South Africa (SA), many women access antenatal care late in pregnancy and there is often insufficient time to attain undetectable viral loads within a pre-viability period. Guidelines and recommendations for invasive testing in HIV-positive women in the SA setting are lacking. This article provides recommendations to healthcare practitioners who are faced with an HIV-positive patient requiring amniocentesis.

  10. Influence of anchoring on miscarriage risk perception associated with amniocentesis.

    Science.gov (United States)

    Nuccio, Regina; Hashmi, S Shahrukh; Mastrobattista, Joan; Noblin, Sarah Jane; Refuerzo, Jerrie; Smith, Janice L; Singletary, Claire N

    2015-04-01

    One factor women consider when deciding whether to pursue amniocentesis is the risk of miscarriage. People use mechanisms like anchoring, or the prior belief regarding the magnitude of risk, as a frame of reference for new information. This study aimed to determine a woman's perception of miscarriage risk associated with amniocentesis before and after genetic counseling and to determine what factors anchor a woman's perception of miscarriage risk. One hundred thirteen women being seen for prenatal genetic counseling and possible amniocentesis at six Houston clinics participated in the two-part anonymous survey. While most women (56.7 %) perceived the risk as low or average pre-counseling and indicated the numeric risk of amniocentesis as amniocentesis had a significantly lower perception of the risk (p = 0.017) whereas those who declined amniocentesis were more likely to view the risk as high (p = 0.004). The only two anchoring factors that had an effect were having a friend or relative with a personal or family history of a genetic disorder (p = 0.001) and having a child already (p = 0.038); both were associated with a lower risk perception. The lack of significant factors may reflect the uniqueness of each patient's risk assessment framework and reinforces the importance of genetic counseling to elucidate individual concerns, particularly as non-invasive prenatal testing becomes more widely available and further complicates the prenatal testing landscape.

  11. Travelling after amniocentesis: answer to a frequent question.

    Science.gov (United States)

    Karaşahin, K E; Ozturk, M; Çoksuer, H; Torun, D; Tunca, Y

    2013-05-01

    The study investigated whether travelling after amniocentesis has an effect on outcomes of the procedure. A total of 57 patients who were referred to our tertiary centre from distant cities and who had to travel back by bus, by car or by plane, were evaluated for amniocentesis outcomes. The travelled distances were divided into 3 zones, which consisted of 50-100, 101-300 and over 300 km. Patients (n = 85) residing in our city (within 50 km) were identified as the control group. All of the procedures were done by the same perinatology team, following exactly the same procedure. It was found that there was one transient amniotic fluid leakage patient who had travelled 70 km by car after the amniocentesis. No other patients who had to travel after amniocentesis had a complication related to the procedure. It was concluded that although done on a limited number of patients, this study provides the first scientifically supported evidence that travelling by bus, by car or by plane after amniocentesis does not have adverse effects on the outcomes.

  12. Amniocentesis in HIV pregnant women: 16 years of experience.

    Science.gov (United States)

    Simões, Mafalda; Marques, Catarina; Gonçalves, Ana; Pereira, Ana Paula; Correia, Joaquim; Castela, João; Guerreiro, Cristina

    2013-01-01

    The iatrogenic risk of HIV vertical transmission, calculated in initial epidemiologic studies, seemed to counterindicate invasive prenatal diagnosis (PND) procedures. The implementation of highly active antiretroviral therapy (HAART) represented a turning point in PND management, owing to a rapid and effective reduction of maternal viral load (VL). In the present study, we identified cases of vertical transmission in HIV-infected pregnant women who did amniocentesis in the second trimester of pregnancy (n = 27), from 1996 to 2011. We divided our sample into Group A--women under HAART when submitted to amniocentesis (n = 20) and Group B--women without antiretroviral therapy before amniocentesis (n = 7). We had 1 case of vertical transmission in Group B. Preconceptional or early first trimester HIV serology is essential to avoid performing an amniocentesis without antiretroviral therapy or viral suppression. When there is an indication for amniocentesis in an HIV-infected pregnant woman, it should be done if the patient is on HAART and, if possible, when VL is undetectable. Nowadays, with combined first trimester screening test to select pregnancies with high risk of aneuploidies, advanced maternal age is a less frequent indication to perform PND invasive procedures, representing an outstanding gain in prenatal diagnosis of this population.

  13. Impact of Interpreters' Approach on Latinas" Use of Amniocentesis

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    Preloran, H. Mabel; Browner, C. H.; Lieber, Eli

    2005-01-01

    Communication difficulties in multicultural clinical settings can be exacerbated by translators, but their actual impact on medical decisions has not been systematically evaluated. This study sought to determine the influence of translators participating in clinical encounters in which English-speaking clinicians offered amniocentesis to…

  14. A review of decision support technologies for amniocentesis.

    NARCIS (Netherlands)

    Durand, M.A.; Boivin, J.; Elwyn, G.

    2008-01-01

    BACKGROUND: There is an increasing interest in designing decision tools [decision support technologies (DSTs)] that support patients when they have to decide about health matters. The purpose of this review was to describe and evaluate existing DSTs for amniocentesis testing. METHODS: Ten medical an

  15. Does Amniocentesis Increase the Rates of Fetal Loss and Poor Pregnancy Outcomes?

    Directory of Open Access Journals (Sweden)

    Onder Ercan

    2014-12-01

    Full Text Available Aim: To evaluate the risk of fetal loss and poor pregnancy outcomes associated with amniocentesis procedures on patients in our clinic in the last 5 years. Material and Method: This retrospective study was conducted by examining the hospital records and genetic centre records of 387 patients who underwent amniocentesis at the Gynaecology and Obstetrics Clinic of Kahramanmaras Sutcu Imam University Medical Faculty between January 2011 and July 2015. A control group was formed of 250 low-risk patients who attended the clinic and did not have amniocentesis applied. Results:Throughout the study period there were 688 patients with an indication for amniocentesis. Of these, amniocentesis was applied to 387 patients and 43.8% refused the amniocentesis. The most common amniocentesis indication was the scanning test for Downs syndrome (57.6% followed by older maternal age (22.5%. Of the patients who underwent amniocentesis, chromosomal abnormality was determined in 24 (6.2%, the most common of which was Downs syndrome (54%. Fetal loss following amniocentesis was seen in 2 patients (0.5%. When the total poor pregnancy outcomes were examined, a poor outcome was determined in 8 of the amniocentesis group and in 5 of the control group and the difference beween the 2 groups was not statistically significant (p=0.263. Discussion: Amniocentesis is an invasive prenatal test in frequent current use. No increase in pregnancy complications was observed associated with the procedure. Before the application of amniocentesis, the patient must be given detailed information about the procedure and the outcomes.

  16. Amniocentesis is a safe and effective prenatal diagnostic tool: a clinical study in Eastern India

    Directory of Open Access Journals (Sweden)

    Kanchan Mukherjee

    2015-10-01

    Conclusions: Two factors, indications for amniocentesis as well as the procedure itself, contribute to the risk of miscarriage. The procedure-related risk is very low and the total risk of miscarriage is around one percent. Amniocentesis is a safe and effective prenatal diagnostic procedure. [Int J Reprod Contracept Obstet Gynecol 2015; 4(5.000: 1330-1334

  17. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women

    DEFF Research Database (Denmark)

    Tabor, A; Philip, J; Madsen, Mette

    1986-01-01

    Outcome of pregnancy after amniocentesis was studied in a randomised controlled trial of 4606 women, age-range 25-34 years, without known risk of genetic disease. Spontaneous abortion rate was 1.7% in the study group after amniocentesis and 0.7% in the control group after ultrasound (relative risk...... 2.3). In the study group, increased levels of maternal serum alpha-fetoprotein before amniocentesis, perforation of the placenta during amniocentesis, and withdrawal of discoloured amniotic fluid were associated with an increased risk of spontaneous abortion. In the first six weeks after...... amniocentesis/ultrasound scan, amniotic fluid leakage occurred more often in the study group but there was no difference in the rate of vaginal bleeding. Frequency of postural malformations in the infants in the two groups was the same. In the study group, respiratory distress syndrome was diagnosed more often...

  18. The impact of financing of screening tests on utilization and outcomes: The case of amniocentesis.

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    Shurtz, Ity; Brzezinski, Amnon; Frumkin, Ayala

    2016-07-01

    We use a 1993 policy change in Israel's public healthcare system that lowered the eligibility age for amniocentesis to 35 to study the effects of financing of screening tests. Financing is found to have increased amniocentesis testing by about 35%. At ages above the eligibility threshold, utilization rates rose to roughly 33%, reflection nearly full takeup among prospective users of amniocentesis. Additionally, whereas below the age-35 threshold amniocentesis utilization rates increase with maternal age, this relation is muted above this age. Finally, no evidence is found that financing affects outcomes such as pregnancy terminations and births of children with Down syndrome. These results support the view that women above the eligibility threshold tend to refrain from acquiring inexpensive information about their degree of risk that absent the financing they would acquire, and instead, undergo the accurate and costly test regardless of additional information that noninvasive screening would provide.

  19. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study

    DEFF Research Database (Denmark)

    Tabor, A; Vestergaard, C H F; Lidegaard, Ø

    2009-01-01

    OBJECTIVE: To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS). METHODS: This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal...... registration numbers of women having had an amniocentesis or a CVS were retrieved from the Danish Central Cytogenetic Registry, and cross-linked with the National Registry of Patients to determine the outcome of each pregnancy. Postprocedural fetal loss rate was defined as miscarriage or intrauterine demise...... before 24 weeks of gestation. RESULTS: The miscarriage rates were 1.4% (95% CI, 1.3-1.5) after amniocentesis and 1.9% (95% CI, 1.7-2.0) after CVS. The postprocedural loss rate for both procedures did not change during the 11-year study period, and was not correlated with maternal age. The number...

  20. Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience.

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    Ekin, A; Gezer, C; Taner, C E; Ozeren, M; Avci, M E; Uyar, I; Ertas, I E

    2014-10-01

    The aim of our study was to evaluate the incidences and chromosomal abnormality detection rates of various indications for genetic amniocentesis. We retrospectively analysed 6,142 amniocentesis cases performed in a single centre between January 2007 and April 2013. We assessed the indications for prenatal diagnosis, fetal karyotypes, maternal ages, fetal ultrasound findings and maternal serum screening results. The most common indication for genetic amniocentesis was an abnormal maternal serum-screening test (36.6%), followed by advanced maternal age (28%), advanced maternal age and an abnormal maternal serum screening test (14.9%) and abnormal ultrasound findings (11.2%). The highest positive predictive values obtained from the indications included abnormal ultrasound findings and abnormal maternal serum screening test (12.9%) and advanced maternal age (12.2%). Although advanced maternal age and abnormal maternal serum screening tests were the most common indicators, their association with abnormal ultrasound findings should be identified to increase the efficacy of genetic amniocentesis.

  1. A Priori Attitudes Predict Amniocentesis Uptake in Women of Advanced Maternal Age: A Pilot Study.

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    Grinshpun-Cohen, Julia; Miron-Shatz, Talya; Rhee-Morris, Laila; Briscoe, Barbara; Pras, Elon; Towner, Dena

    2015-01-01

    Amniocentesis is an invasive procedure performed during pregnancy to determine, among other things, whether the fetus has Down syndrome. It is often preceded by screening, which gives a probabilistic risk assessment. Thus, ample information is conveyed to women with the goal to inform their decisions. This study examined the factors that predict amniocentesis uptake among pregnant women of advanced maternal age (older than 35 years old at the time of childbirth). Participants filled out a questionnaire regarding risk estimates, demographics, and attitudes on screening and pregnancy termination before their first genetic counseling appointment and were followed up to 24 weeks of gestation. Findings show that women's decisions are not always informed by screening results or having a medical indication. Psychological factors measured at the beginning of pregnancy: amniocentesis risk tolerance, pregnancy termination tolerance, and age risk perception affected amniocentesis uptake. Although most women thought that screening for Down syndrome risk would inform their decision, they later stated other reasons for screening, such as preparing for the possibility of a child with special needs. Findings suggest that women's decisions regarding amniocentesis are driven not only by medical factors, but also by a priori attitudes. The authors believe that these should be addressed in the dialogue on women's informed use of prenatal tests.

  2. [FREQUENCIES OF FETAL CHROMOSOMAL ABERRATIONS DETECTED BY AMNIOCENTESIS: OUR 15-YEARS EXPERIENCE].

    Science.gov (United States)

    Stoyanova, V; Ivanov, H; Linev, A; Vachev, T

    2015-01-01

    Amniocentesis is the most common and reliable prenatal diagnostic method for chromosomopathies. The purpose of the present study is to retrospectively evaluate our 15-year experience with prenatal cytogenetic diagnosis by amniocentesis, focusing on the indications and rates of chromosome abnormalities. The current study involve prenatal cytogenetic analysis from 564 amniocentesis performed at the Department of Medical Genetics, St. George University Hospital, Plovdiv between January 2000 and December 2014. Among clinical indications, abnormal maternal serum screening results (54.96%; 310/564) have been the most common indication for amniocentesis. Chromosomal abnormalities were detected in 5.5% (31/546) of cases. Structural rearrangements were the most common abnormality found (16/3 1;51,61%) with prevalence of balanced aberrations--11 cases. The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis due to known family history of chromosomal abnormality (15.1%), followed by abnormal fetal ultrasound finding group (7.69%), increasing-risk maternal prenatal screening results (4.52%), and advanced maternal age (3.28%). This study provides important information for prenatal genetic counseling of families at risk with aim of prenatal care and prevention during pregnancies.

  3. Exploring the role of religiosity and spirituality in amniocentesis decision-making among Latinas.

    Science.gov (United States)

    Seth, Sarah Guerra; Goka, Thomas; Harbison, Andrea; Hollier, Lisa; Peterson, Susan; Ramondetta, Lois; Noblin, Sarah Jane

    2011-12-01

    Given the complex array of emotional and medical issues that may arise when making a decision about amniocentesis, women may find that their spiritual and/or religious beliefs can comfort and assist their decision-making process. Prior research has suggested that Latinas' spiritual and/or religious beliefs directly influence their amniocentesis decision. A more intimate look into whether Latinas utilize their beliefs during amniocentesis decision-making may provide an opportunity to better understand their experience. The overall goal of this study was to describe the role structured religion and spirituality plays in Latinas' daily lives and to evaluate how religiosity and spirituality influences health care decisions, specifically in prenatal diagnosis. Semi-structured interviews were conducted with eleven women who were invited to describe their religious beliefs and thoughts while considering the option of amniocentesis. All participants acknowledged the influence of religious and/or spiritual beliefs in their everyday lives. Although the women sought comfort and found validation in their beliefs and in their faith in God's will during their amniocentesis decision-making process, results suggest the risk of procedure-related complications played more of a concrete role than their beliefs.

  4. [Amniocentesis trainer: development of a cheap and reproducible new training model].

    Science.gov (United States)

    Tassin, M; Cordier, A-G; Laher, G; Benachi, A; Mandelbrot, L

    2012-11-01

    Amniocentesis is the most common invasive procedure for prenatal diagnosis. It is essential to master this sampling technique prior to performing more complex ultrasound-guided interventions (cordocentesis, drain insertion). Training is a challenge because of the risks associated with the procedure, as well as the impact on the patient's anxiety. An amniocentesis simulator allows for safe training and repeats interventions, thus accelerating the learning curve, and also allows for periodic evaluation of proficiency. We present here a new, simple, and cost-effective amniotrainer model that reproduces real life conditions, using chicken breast and condoms filled with water.

  5. THE INFLUENCE OF SERUM SCREENING ON THE AMNIOCENTESIS RATE IN WOMEN OF ADVANCED MATERNAL AGE

    NARCIS (Netherlands)

    BEEKHUIS, [No Value; DEWOLF, BTHM; MANTINGH, A; HERINGA, MP

    1994-01-01

    We investigated the effect of maternal serum screening on the amniocentesis (AC) rate in women of advanced maternal age. The AC rate after maternal serum screening was compared in two groups of women with a singleton pregnancy, 855 women of 30-35 years and 98 of 36 years and older. In our population

  6. Similar risk for hemangiomas after amniocentesis and transabdominal chorionic villus sampling

    NARCIS (Netherlands)

    Bauland, Constantijn G.; Smit, Jeroen M.; Scheffers, Saskia M.; Bartels, Ronald H.; van den Berg, Paul; Zeebregts, Clark J.; Spauwen, Paul H.

    2012-01-01

    AIM: In an earlier study we have shown that transcervical chorionic villus sampling in excess of 90 mg increases the risk for hemangiomas of infancy three- to four-fold compared to amniocentesis. In the present study we investigated whether transabdominal chorionic villus sampling (TA-CVS), in which

  7. Genetic amniocentesis in twin pregnancies: results of a multicenter study of 529 cases

    NARCIS (Netherlands)

    Pruggmayer, M.R.K.; M.G. Jahoda (M.); Van der Pol, J.G.; Baumann, P.; Holzgreve, W.; Karkut, G.; Lettau, R.; Eiben, B.; Osmers, R.; Gola, H.W.; Duda, V.; Polak, P.; Körner, H.; Schulte‐Valentin, M.; Schütte, H.

    1992-01-01

    textabstractTo evaluate the risk of abortion after genetic amniocentesis in twin pregnancies, a retrospective study of 15 centers was performed. The spontaneous abortion rate up to 20 completed weeks of gestation was 2.3%; the abortion rate up to 28 completed weeks, as defined by WHO, was 3.7%. The

  8. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  9. Similar risk for hemangiomas after amniocentesis and transabdominal chorionic villus sampling.

    NARCIS (Netherlands)

    Bauland, C.G.; Smit, J.M.; Scheffers, S.M.; Bartels, R.H.M.A.; Berg, P. van den; Zeebregts, C.J.A.; Spauwen, P.H.M.

    2012-01-01

    AIM: In an earlier study we have shown that transcervical chorionic villus sampling in excess of 90 mg increases the risk for hemangiomas of infancy three- to four-fold compared to amniocentesis. In the present study we investigated whether transabdominal chorionic villus sampling (TA-CVS), in which

  10. Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program.

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    Prusa, A-R; Kasper, D C; Pollak, A; Olischar, M; Gleiss, A; Hayde, M

    2015-02-01

    Prenatal diagnosis of congenital toxoplasmosis (CT) influences therapeutical management in pregnant women and their offspring. In Austria, a nationwide serological healthcare program to identify potential maternal toxoplasma infections during pregnancy exists. We assessed the clinical use of amniocentesis for toxoplasma-specific polymerase chain reaction (PCR) on amniotic fluid to detect CT. Data on serology, amniocentesis, PCR, complications, treatment, and paediatric clinical outcome were collected retrospectively among the birth cohort 1992-2008. There were 1386 women with amniocentesis, but only in 707 cases (51%) was acute maternal infection confirmed serologically. A high proportion (49%) of amniocenteses with negative PCR results in women with chronic infection or seronegativity were performed without clinical justification for the women or their foetuses. The positive and negative predictive values of PCR were 94.4% and 99.3%, respectively. Thirty-nine foetuses with CT, including four deaths, were reported. The five PCR-negative but infected infants were identified by the serological and clinical follow-up program. Thirty percent of amniocenteses were performed in the third trimester, and gestational age or treatment did not influence PCR sensitivity. Amniocentesis is indicated in women with acute maternal infection, and facilitated targeted therapies in pregnant women and their offspring. In women with late toxoplasma infection, negative amniotic fluid PCR made treatment of infants unnecessary. Serological and clinical follow-up of infants is important to confirm the infection status of the infant. Recommendations, based on our 17-year experience, to improve the current diagnostic strategies and to reduce unnecessary amniocentesis, are given.

  11. [Disseminated intravascular coagulation and acute kidney injury requiring renal replacement therapy after diagnostic amniocentesis].

    Science.gov (United States)

    Ratković, Marina; Bašić-Jukić, Nikolina; Gledović, Branka; Radunović, Danilo

    2014-04-01

    Disseminated intravascular coagulation (DIC) is a very rare complication of amniocentesis. We present a case of a 33-year-old patient who developed DIC with acute respiratory distress syndrome and acute kidney injury after diagnostic amniocentesis. The patient required replacement of renal function for 59 days with continuous venovenous hemodiafiltration and later with hemodialysis. She was treated with heparin, fresh frozen plasma, platelets and cryoprecipitate. Her condition was further complicated with the development of intracranial hematoma. After 67 days of hospitalization, she was discharged from the hospital with serum creatinine 337 μmol/L. Three years later, her serum creatinine was 102 μmol/L, and she is currently in the 7th month of pregnancy.

  12. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

  13. Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to delivery.

    Science.gov (United States)

    Cutler, J; Chappell, L C; Kyle, P; Madan, B

    2013-11-01

    X-linked and autosomally inherited bleeding disorders confer a risk of foetal intracranial haemorrhage during delivery. Conventional prenatal diagnosis involving chorionic villus sampling or early amniocentesis is primarily aimed at offering the choice of pregnancy termination. Currently, non-invasive procedures, involving analysis of free foetal DNA in the maternal circulation, are restricted to gender determination, and are of limited value in women at risk of carrying a foetus with a bleeding disorder. These limitations, together with the rising proportion of women shown to be carrying an affected foetus, who decide to continue the pregnancy, have led to the development of prenatal mutation identification via late amniocentesis after 34 weeks of gestation, with the sole aim of directing delivery management. Although this approach has been documented in some cases of potential foetal anomaly, there are no previous reports of its use in women with heritable bleeding disorders. We report a single-centre experience of this technique in managing nine such deliveries. Of these, three showed an affected foetus, five showed an unaffected foetus and in one case no result could be obtained. In the three affected cases and the one with the inconclusive result restrictive birth plans were implemented, whereas the five unaffected cases underwent routine obstetric management; with one delivery necessitating interventions which would have been contraindicated if foetal status had not been determined. Late amniocentesis is a safe technique for guiding delivery management in women with bleeding disorders where the mutation is known.

  14. Intra-amniotic infection/inflammation as a risk factor for subsequent ruptured membranes after clinically indicated amniocentesis in preterm labor.

    Science.gov (United States)

    Lee, Sung Youn; Park, Kyo Hoon; Jeong, Eun Ha; Oh, Kyung Joon; Ryu, Aeli; Kim, Ahra

    2013-08-01

    The aim of this study was to determine whether intra-amniotic infection/inflammation (IAI) was associated with subsequent ruptured membranes in women with preterm labor and intact membranes who had a clinically indicated amniocentesis. This retrospective cohort study included 237 consecutive women with preterm labor (20-34.6 weeks) who underwent amniocentesis. The clinical and laboratory parameters evaluated included demographic variables, gestational age, C-reactive protein (CRP) and amniotic fluid (AF) white blood cell, interleukin-6 (IL-6) and culture results. IAI was defined as a positive AF culture and/or an elevated AF IL-6 level (>2.6 ng/mL). The primary outcome was ruptured membranes in the absence of active labor occurring within 48 hours of amniocentesis. Preterm premature rupture of membranes subsequently developed in 10 (4.2%) women within 48 hr of amniocentesis. Multivariate analysis demonstrated that only IAI was independently associated with the ruptured membranes occurring within 48 hr of amniocentesis. In the predictive model based on variables assessed before amniocentesis, only CRP level was retained. IAI is an independent risk factor for subsequent ruptured membranes after clinically indicated amniocentesis in preterm labor. Prior to amniocentesis, measurement of serum CRP level can provide a risk assessment for the subsequent development of ruptured membranes after the procedure.

  15. Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling.

    Science.gov (United States)

    Zhang, H G; Zhang, X Y; Zhang, H Y; Tian, T; Xu, S B; Liu, R Z

    2016-08-19

    Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases. Of the 16 detected cases of fetal reciprocal translocation, 8 cases (50%) showed positive biochemical marker screening; 3 cases (18.75%) were the parental carriers of a chromosomal abnormality; 2 (12.5%) were of advanced maternal age, 2 (12.5%) had a previous history of children with genetic disorders, and 1 case (6.25%) was associated with positive soft markers in obstetric ultrasound. Chromosomes 5 and 19 were the most commonly involved chromosomes in balanced translocations. Of the 13 cases with fetal balanced translocations, 8 (61.5%) were inherited from a paternal chromosome, 3 (23.1%) from a maternal chromosome, and 2 (15.4%) cases were de novo. The incidence of balanced translocation at amniocentesis was 0.42%. Male carriers of reciprocal chromosome translocation appear to have a higher chance of becoming a parent of a child born by normal childbirth than female carriers.

  16. 2ND TRIMESTER AMNIOCENTESIS IN TWIN PREGNANCIES - MATERNAL HEMOGLOBIN AS A DYE MARKER TO DIFFERENTIATE DIAMNIOTIC TWINS

    NARCIS (Netherlands)

    BEEKHUIS, [No Value; DEBRUIJN, HWA; VANLITH, JMM; MANTINGH, A

    1992-01-01

    Objective To review the use of a membrane-free haemolysate prepared from maternal blood to distinguish the amniotic sacs at amniocentesis in twin gestation. Setting University Hospital, Groningen. Method Haemoglobin solution prepared from maternal blood. Subjects 63 twin pregnancies having amniocent

  17. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  18. Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk

    Directory of Open Access Journals (Sweden)

    Caroline Ogilvie

    2014-07-01

    Full Text Available Risk of procedure-related pregnancy loss is currently widely quoted in the UK as 1% for amniocentesis and 1.5% for chorionic villus sampling. Published data suggest that these risk figures are out of date and inaccurate, and that new guidelines are required for pre-test counseling. It is our opinion that accurate and evidence-based information concerning miscarriage risk is vital when counseling women, as exaggeration of this risk may deter women from testing, or cause unjustified remorse if a miscarriage ensues. It is also essential that health-care economists are aware of the up-to-date evidence on “procedure-related risk” when applying risk-benefit analysis to assess new technology for non-invasive screening.

  19. Prenatal Genetic Diagnosis in 481 Amniocentesis, Chorion Villi Sample and Cordocentesis Specimens

    Directory of Open Access Journals (Sweden)

    Turgay Budak

    2007-01-01

    Full Text Available In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome, two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples. There were no false positive and false negative results.

  20. Assessing Health-Related Quality-of-Life in Prenatal Diagnosis Comparing Chorionic Villi Sampling and Amniocentesis: A Technical Report

    OpenAIRE

    David Feeny; Marie Townsend; William Furlong; Darrell Tomkins; Gail Robinson; George Torrance; Patrick Mohide; Qinan Wang

    2000-01-01

    Objectives. To assess the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA) prenatal diagnosis, including factors related to both the processes and the outcomes. Study Design. The HRQL of one hundred twenty six women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis o...

  1. Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a university centre.

    Science.gov (United States)

    Palo, P; Piiroinen, O; Honkonen, E; Lakkala, T; Aula, P

    1994-03-01

    The fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5-year period (1987-1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post-procedure loss was 6.7 per cent in the CVS group and 4.4 per cent in the AC group (p = 0.08). The rate of spontaneous abortions was 1.9 per cent in the CVS group and 1.0 per cent in the AC group (p = 0.10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA-CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.

  2. Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester

    Directory of Open Access Journals (Sweden)

    Bagherizadeh E

    2010-01-01

    Full Text Available Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP, human chorionic gonadotrophin (hCG, and unconjugated estriol (uE3, together with maternal age. The fetus was identified as screen-positive for Edward′s syndrome (trisomy 18, with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sample. The fetus′s karyotype showed triploidy with 69, XXX chromosome complement in all the metaphase spreads obtained from three different cultures, using GTG banding technique. Upon termination of the fetus, gross abnormalities indicative of triploidy were present in the fetus.

  3. Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

    Science.gov (United States)

    Miyake, Hidehiko; Yamada, Shigehito; Fujii, Yosuke; Sawai, Hideaki; Arimori, Naoko; Yamanouchi, Yasuko; Ozasa, Yuka; Kanai, Makoto; Sago, Haruhiko; Sekizawa, Akihiko; Takada, Fumio; Masuzaki, Hideaki; Matsubara, Yoichi; Hirahara, Fumiki; Kugu, Koji

    2016-10-01

    Prenatal testing has been provided in Japan over the past several decades. However, it is difficult to assess the clinical status of amniocentesis (AC) and maternal serum markers (MSM) because obstetricians can perform these tests without registration. This study aims to investigate the current clinical status of AC and MSM in Japan. We conducted a questionnaire study that was intended for a total of 5622 Japanese obstetrics/gynecology facilities during October 2013 to January 2014. The response rate was 40.8% (2295/5622). Of the 2295 facilities, 864 performed MSM (37.7%), 619 performed AC (27.0%) and 412 performed both (18.0%). The average number of MSM tests was 2.0 per month (range 0-52), and the average number of AC tests was 2.4 per month (range 0-30). Involvement of genetic professionals, such as clinical geneticists (CGs) and certified genetic counselors (CGCs), contribute to a content-rich explanation and management of difficult issues and lengthened the explanation time. Nevertheless, relatively few facilities employed these specialists (MSM: 96/864 and AC: 128/619). This is the first study to highlight the current clinical status of AC and MSM tests in Japan. Active involvement of CGs and CGCs can provide more appropriate genetic counseling for prenatal tests.

  4. Maternal anxiety and its correlation with pain experience during chorion villus sampling and amniocentesis

    Science.gov (United States)

    Klages, Katharina; Kundu, Sudip; Erlenwein, Joachim; Elsaesser, Michael; Hillemanns, Peter; Scharf, Alexander; Staboulidou, Ismini

    2017-01-01

    Purpose Invasive prenatal diagnostic procedures, such as chorion villus sampling (CVS) and amniocentesis (AC), are routinely performed to exclude or diagnose fetal chromosomal abnormalities. The aim of this study was to investigate anxiety-dependent pain experience during CVS and AC and the potential factors that increase anxiety and pain levels. Patients and methods During a 2-year period, women undergoing invasive procedures in three specialist centers were asked to participate in the study. Anxiety was evaluated before the procedure using the Spielberger State-Trait-Anxiety-Inventory, and pain was evaluated directly after the procedure using a verbal rating scale. Results Among the women, 348/480 (73%) underwent AC, while 131/480 (27%) underwent CVS. There was a significant correlation between state and trait anxiety (p<0.0001). A positive correlation existed between the degree of anxiety and the level of pain experienced (p=0.01). There was a positive correlation for trait anxiety (p=0.0283) as well as for state anxiety (p=0.0001) and pain perception (p=0.0061) when invasive procedure was performed owing to abnormal ultrasound finding or to a history of fetal aneuploidy. Maternal age was found to be another influencing factor for the experienced pain (p=0.0016). Furthermore, the analysis showed a significant negative correlation between maternal age and anxiety. That applies for trait anxiety (p=0.0001) as well as for state anxiety (p=0.0001). The older the woman, the less anxious the reported feeling was in both groups. The main indication for undergoing CVS was abnormal ultrasound results (45%), and the main reason for undergoing AC was maternal age (58%). Conclusion Procedure-related pain intensity is highly dependent on the degree of anxiety before the invasive procedure. In addition, the indication has a significant impact on the emerging anxiety and consequential pain experiences. These influencing factors should therefore be considered during counseling

  5. Justifiability of amniocentesis on the basis of positive findings of triple test, ultrasound scan and advanced maternal age

    Directory of Open Access Journals (Sweden)

    Dragoslav Bukvic

    2011-05-01

    Full Text Available Objective. To assess the effectiveness of antenatal screening for chromosomal abnormalities based on maternal age (≥35 years, positive ultrasound findings or a positive triple test. Materials and methods. Retrospective six-year study. The pregnant women routinely underwent established clinical and laboratory practice at the Department of Medical Genetics between 1997 and 2003. The women’s case notes were examined to identify indications for karyotyping, gestation period and the outcome of karyotyping and pregnancy. Results. Invasive antenatal tests were performed on 1440 cases, 1168 (81.11% age 35(a, 72 (5.00% positive triple test (b, 24 (1.67% positive ultrasound scanning (c and 176 (12.2% other (psychological, personal reasons, etc (d. The overall positive predictive value was 1.67% (1.6%(a, 1.4% (b, 12.5% (c, 0.0% (d. The constructed model of logistic regression gave an odds-ratio of 8.647 for the “positive ultrasound result vs. maternal age ≥35” indication, while the odds-ratio for the triple test vs. maternal age ≥35 was 0.854. Conclusions. Amniocentesis and cytogenetic analysis of foetal karyotype should be presented as a diagnostic possibility to all women over 35 years. The application of biochemical markers was far from the expected results. If we compare results for indication positive ultrasound scanning vs. maternal age, an oddsratio of ~9 was obtained. These results demonstrate that the likelihood of obtaining positive results (i.e. the presence of chromosome alterations from an amniocentesis having this indication is almost 9 times higher than from having an amniocentesis performed solely for advanced maternal age.

  6. [Edwards syndrome--most frequent indications for genetic amniocentesis. Analysis of the last 5 years].

    Science.gov (United States)

    Chuchracki, Marek; Janiak, Justyna; Ziółkowska, Katarzyna; Sedziak, Anna; Opala, Tomasz

    2012-01-01

    Edwards syndrome (trisomy 18) occurs in 1: 8000 live births and is closely related to the mother's age. Most of the embryos and fetuses with trisomy of 18 chromosome pair undergo natural abortion. Change in number and structure of chromosomes usually takes place spontaneously. However, the incidence of chromosome mutations increases with the presence of mutagenic factors. One of the chemical mutagenic factors is benzopyrene - present in cigarette smoke. Prenatal cytogenetic diagnostic is used for detecting diseases and clinical syndromes conditioned by chromosome aberrations. To this date the "golden standard" of this diagnostic is the assessment of the fetus karyotype by means of analysis of chromosome banding pattern from amniotic fluid-derived cells. The aim of the study was the analysis of indications for genetic amniocenteses carried out in the last 5 years and in case of which trisomy of chromosome 18 (Edwards syndrome) was diagnosed. The analysis covered 1593 results of fetus karyotypes obtained from Cytogenetic Laboratory of the Central Gynecological-Obstetric Clinical Hospital in Poznań over the last 5 years. The study procedure consisted in producing cell culture from amniotic fluid, appliance of appropriate color techniques and thorough microscopic analysis of chromosome banding pattern. As a result of the analysis it was discovered that in 1538 cases the karyotype was normal, and in 55 cases trisomy 18 was diagnosed, which constituted 3% of all cytogenetic tests. The highest number of trisomy 18 cases was noted in 2009 - 19 cases, which constitutes 5% of all tests. In 2010 and 2011 the results included respectively 2% and 3% of diagnosed trisomy 18 (Edwards syndrome). In the last 5 years normal results for karyotypes constituted 87%, in 10% cases other aberrations were diagnosed through cystogenetic tests, whereas 3% of the results have shown trisomy 18 (Edwards syndrome The most frequent indications for performing genetic amniocentesis, as a result of

  7. Evaluation of the cytogenetical results of 4707 cases diagnosed with amniocentesis.

    Directory of Open Access Journals (Sweden)

    Ayfer Pazarbasi

    2011-02-01

    Full Text Available PURPOSE: Amniocentesis is a very crucial diagnostic procedure for preventing the birth of genetically defective fetuses in order to decrease the prevalence of genetic diseases in populations. METHODS: The karyotyping of 4707 fetuses was carried out in our department during the years of 2000-2009 from the samples of amniotic fluids, CVS, fetal tissues and urines which were sent from departments of Gynecology and Obstetrics of Balcali Hospital and other regional hospitals. RESULTS: The mean maternel and gestational age of pregnant women evaluated for prenatal diagnosis were 29.1 years of age and 18.8 months respectively. Among 4707 fetuses that were karyotyped; 2284 fetuses were males and 2205 fetuses were females and 218 (4.63% fetuses had various chromosomal abnormalities. Consequently, male to female ratio of fetuses that were examined was 1.03. The advanced maternal age pregnancies followed by positive triplescreening were related to the highest rate of chromosomal abnormalities. The mean age of pregnant women having fetuses with chromosomal abnormalities was found to be 33 years of age which suggest that fetal chromosomal abnormalities were associated with maternal age. Numerical chromosomal abnormalities predominated the structural chromosomal abnormalities (55.5% vs to 44.5%. The numerical chromosomal abnormalities with an incidence of 47.9% trisomy 21, 14.1% trisomy 18, 8.7% Klinefelter Syndrome, 7% monosomy X, 6.6% trisomy 13, 1.7% trisomy X, 1.7% XYY Syndrom, 10% mosaics and the others represented the remaining. Of the structural abnormalities 35% were balanced while the 4% were unbalanced. The frequent structural abnormalities were 25.3% 46,XX/XY, inv(9(p11;q12 and 19.5% 46,XX/XY, inv(9(p11;q13. Balanced and unbalanced translocations, deletions and duplications were alsocontributed to chromosomal abnormalities in lesser extent. CONCLUSIONS: Corollary to literature and our findings revealed that the advanced maternal age and certain

  8. The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory.

    Science.gov (United States)

    Nishiyama, Miyuki; Sawai, Hideaki; Kosugi, Shinji

    2013-12-01

    Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p < 0.0001), university hospitals (p < 0.0001), and MD geneticists (p = 0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

  9. Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling : A controlled trial with infant follow-up

    NARCIS (Netherlands)

    Nagel, HTC; Vandenbussche, FPHA; Keirse, MJNC; Oepkes, D; Oosterwijk, JC; Beverstock, G; Kanhai, HHH

    1998-01-01

    A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early

  10. Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report.

    Science.gov (United States)

    Murakami, M; Iwasa, T; Takahashi, Y; Morine, M

    2011-01-01

    Pallister-Killian syndrome (PKS) is an extremely rare genetic disease characterized cytogenetically by tetrasomy 12p mosaicism. We recently encountered a case of maternal hydramnios associated with congenital diaphragm hernia according to the prenatal diagnosis. Prenatal diagnosis revealed a non-mosaic 47, XY, i(12)(p10) karyotype at amniocentesis of G-band and M-FISH analysis. We performed chromosomal analysis in both interphase and metaphase cells from a cord blood lymphocyte specimen. Mosaic tetrasomy of chromosome 12p was supported by G-banding or FISH analysis. When fetal observations are performed in detail using 2D/3D US, PKS may be diagnosed. In addition, it is effective to perform amniocentesis during the third trimester of pregnancy.

  11. Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases.

    Science.gov (United States)

    An, N; Li, L L; Wang, R X; Li, L L; Yue, J M; Liu, R Z

    2015-12-02

    The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

  12. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration.

    Science.gov (United States)

    Van Opstal, Diane; Srebniak, Malgorzata I

    2016-01-01

    It has been shown that in non-invasive prenatal testing (NIPT) there is a small chance of a false-positive or false-negative result. This is partly due to the fact that the fetal cell-free DNA present in maternal plasma is derived from the cytotrophoblast of chorionic villi (CV), which is not always representative for the fetal karyotype due to chromosomal mosaicism. Therefore, a positive NIPT result should always be confirmed with invasive testing, preferably amniocentesis, in order to investigate the fetal karyotype. However, since this invasive test can only be safely performed after 15.5 weeks of gestation while NIPT can be done from the 10(th) week of gestation, this potentially means an unacceptable long waiting time for the prospective parents to receive a definitive result. Based on our experience with cytogenetic investigations in CV and the literature, we determined whether CV sampling may be appropriate for confirmation of an abnormal NIPT result.

  13. 唐氏综合征高风险孕妇拒绝羊膜腔穿刺术原因调查%Investigation on Reasons of Refusing Amniocentesis by High- risk Pregnant Women With Down's Syndrome

    Institute of Scientific and Technical Information of China (English)

    梁红; 高岚; 陈颖

    2011-01-01

    目的 提高唐氏综合征高风险孕妇的羊膜腔穿刺率,降低出生缺陷儿的发生.方法对来产前咨询门诊就诊具有羊膜腔穿刺指征而拒绝行羊膜腔穿刺者进行原因调查.结果2年产前咨询预约羊膜腔穿刺3845人,其中有1614例如约行羊膜腔穿刺术,羊膜腔穿刺率为41.98%,2231例拒绝羊膜腔穿刺的孕妇中孕妇自身心理因素占了绝大部分,包括担心流产(57.15%)、怕痛苦(8.74%)、心存侥幸(11.52%)、对医院的错误认识(3.68%)等.<35岁组和≥35岁拒绝穿刺的主要原因不同.结论某妇幼保健院拒绝羊膜腔穿刺比例较高,原因以心理因素为主,不同年龄段所担心的原因不同,应分别对待给予相应的心理干预.%Objective To improve the amniocentesis rate of high - risk pregnant women with Down's syndrome, and reduce the occurrence of birth defects of children. Methods The reasons of the Down's syndrome high - risk pregnant women who refused to amniocentes in prenatal counseling out - patient clinic were investigated. Result Totally 3 845 pregnants visited prenetal counseling reserved amniocentesis within 2 years; in which 1 614 cases were conducted amniocentesis as reservetion, with the amniocentesis rate was 41.98%. Those 2 231 cases refused amniocentesis were mainly caused by self psychological factors, including afraid of a-bortion (57. 15% ) , afraid of pain (8. 74% ), leaving things to chance (11. 52% ) and wrong cognition of the hospital (3. 68% ), etc. The main reasons of patients aged < 35 years and 3≥35 years were different. Conclusion The refusing rate of amniocentesis in this maternity and child healthcare hospital is high, the main reason is psychological factors, and varies in different age groups. Therefore, appropriate psychological interventions should be given separately.

  14. Analysis of balanced translocation at amniocentesis on prenatal diagnosis%羊水染色体平衡易位在产前诊断中的分析

    Institute of Scientific and Technical Information of China (English)

    罗小金; 胡亮; 冉健; 魏凤香

    2015-01-01

    Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.%目的:探讨孕妇羊水染色体平衡易位的产前诊断指征分布及妊娠结局,为本地区的优生提供科学依据.方法:选取2011年2月至2015年3月在本院进行羊水染色体核型分析的76例平衡易位病例进行回顾分析. 结果:76例病例中产前诊断指征为高龄妊娠38例, 夫妇易位携带者20例, 唐氏筛查高风险9例,不良孕产史5例,B超结果异常2例及其他原因2例. 结论:羊水染色体核型平衡易位者可由于伴随非整倍体异常、 新突发X-常染色体易位及复杂易位而导致胎儿畸形. 新突发简单易位需依据B超、FISH 及array-CGH详细结果给予准确妊娠指导.

  15. Incidence of chromosome abnormalities at a second-trimester genetic amniocentesis for Mainland Chinese women of advanced maternal age: a study of 6, 584 cases

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Jiang Yu-lin; Zhou Xi-ya; Liu Jun-tao; Bian Xu-ming

    2012-01-01

    Objective: The aim of this study was to calculate the expected incidence of chromosomal aneuploidy at second trimester genetic amniocentesis in Mainland China in women aged 35 and older.Methods: We reviewed the genetic amniocenteses data in Peking Union Medical College Hospital between January 2001 to June 2011.The indication for genetic amniocentesis was solely advanced maternal age (AMA).A total of 6,584 cases were included in this study.The AMA women was divided into two groups by maternal age,the group of 35-39 years old and the group of ≥40 years old.The incidence of fetal Down syndrome was compared between the two groups by chi-square test.Results: A total of 121 cases were diagnosed to be chromosomally abnormal,giving an overall incidence of 18.38‰ (121/6,584).The abnormal karyotypes included 111 cases of various aneuploidies and 10 cases with various structural abnormalities.The aneuploidies(mosaicism included)were 59 cases of (47,+ 21),25 cases of (47,+ 18),2 cases of (47,+ 13),8 cases of (45,X),3 cases of (47,XXX),13 cases of (47,XXY) and 1 case of (47,XYY).The karyotype of (47,+21) was the most frequent chromosomal abnormality,with an overall incidence of 8.96‰,account for 53.1% of all aneuploidies.Sex chromosome aneuploidies were the next most common,with a total incidence of 3.80‰.The incidence of fetal Down syndrome was significantly higher in the group of ≥40 years old than that of the group of 35-39 years old (P=0.047).Conclusions: The incidence of chromosomal aneuploidy found in this study is the first data published for Mainland China and will be helpful for the counseling of pregnant women in this age group.Consideration may be given to prenatal screening versus prenatal diagnosis in women of advanced maternal age in Mainland China.

  16. 产前诊断21三体综合征的临床分析%Clinical analysis on trisomy 21 syndrome by amniocentesis antenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    徐聚春; 胡斌; 董艳玲; 胡华梅; 龙洋; 许欢欢; 胡华; 姚宏

    2012-01-01

    Objective: To understand the effect of menstrual age, screening of Down syndrome, family history of genetics diseases and B - mode ultrasonography Abnorm on the cases of trisomy 21 syndrome confirmed. Methods: We had collected 3960 cases of antenatal diagnosis by amniocentesis from 2005 to 2011 in our hospital and 43 cases of them had been confirmed as trisomy 21 syndrome. Then all the cases of trisomy 21 syndrome were aggregately investigated though menstrual age, screening of Down syndrome, family history of genetics diseases and B - mode ultrasonography Abnorm. Results: Eighteen pregnant women of 43 cases were more than 34 years, which was 41. 9%. Fifteen cases, 34. 9% , were positive in screening of Down syndrome. Six cases, 13. 9% , had family history of genetics diseases. Four cases, 9. 3% , were found with abnormal signals by type - B - mode ultrasonography Abnorm. Conclusion : It could reduce the birth rate of trisomy 21 syndrome that the pregnant women with clinical indications followed antenatal diagnosis. Amniocentesis should be introduced to more pregnant women and families to improve the social consciousness on antenatal diagnosis.%目的 通过对产前诊断中21三体综合征进行临床分析,了解孕龄、唐氏征筛查、家族遗传史及B超异常对21三体综合征发生的影响.方法 收集我院2005年至今羊水穿刺产前诊断标本共3960例,其中21三体综合征43例,通过对43例孕妇从发病年龄、家族遗传史、唐氏征筛查及B超异常来综合分析21三体综合征的发生情况.结果 43例21三体综合征中:年龄≥34岁18例,占41.9%;唐筛阳性15例,占34.9%;遗传病史6例,占13.9%;B超异常4例,占9.3%.结论 加强对有产前诊断指征孕妇进行必要的产前诊断,可减少21三体综合征患儿的出生;加强宣传,提高孕妇、家庭及社会的对羊水产前诊断的认识.

  17. Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis.

    Science.gov (United States)

    Hook, E B

    1980-11-01

    Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.

  18. 羊膜腔穿刺术对乙肝母婴阻断影响的研究%Study on the influence of Amniocentesis in the prevention of Mother - to - child Transmission of hepatitis B

    Institute of Scientific and Technical Information of China (English)

    文晓燕; 李扬; 次玲娟; 孙素丽; 焦红燕; 张惠芳

    2016-01-01

    Objective:To compare the infection rate between the pregnancy women with hepatitis B virus(HBV)who do amniocentesis and not do. Methods:Retrospective study on the 173 pregnant women who carry HBV and need to do amniocen-tesis in our hospital,to compare the HBV - positive rate of the baby after delivery six months between which mother do amnio-centesis and not do. Results:Compare with the domestic pregnancy women who not do amniocentesis,the rate of prevent mother- to - child transmission(PMTCT)have no statistical significance(P ﹥ 0. 05). Conclusion:In the canonical PMTCT,the infec-tion rate between the pregnancy women with HBV who do amniocentesis and not do have no significant difference.%目的:探讨羊膜腔穿刺术对乙肝母婴阻断的影响。方法:对行羊膜腔穿刺术同时合并乙肝病毒感染的173例孕妇进行回顾性研究,随访其产后6个月婴儿乙肝表面抗原(HBsAg)阳性情况,与国内采取相同产前、产后阻断方案且未行穿刺术的孕妇进行比较。结果:与国内未行穿刺术的孕妇相比较,其母婴阻断率差异无统计学意义( P ﹥0.05)。结论:乙型肝炎病毒(HBV)感染的孕妇行羊膜腔穿刺术后,在规范母婴阻断前提下,其 HBV 感染率与未行穿刺术者没有显著差别。

  19. Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis

    Energy Technology Data Exchange (ETDEWEB)

    Spector, E.; Prochazka, G.; Hamilton, S. [Univ. of Colorado School of Medicine, Denver (United States)] [and others

    1994-09-01

    A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.

  20. 心理干预对羊膜腔穿刺孕妇焦虑抑郁恐惧情绪的影响%Effect of psychological intervention on feeling of anxiety, depression and fear in pregnant women receiving amniocentesis

    Institute of Scientific and Technical Information of China (English)

    谢虹

    2011-01-01

    目的 探讨综合心理干预对接受羊膜腔穿刺孕妇焦虑、抑郁、恐惧情绪的影响.方法 选取接受羊膜腔穿刺孕妇168例,分为干预组82例、对照组86例,干预组进行术前、中、后综合心理干预,包括健康教育、心理支持、音乐疗法、放松训练.对照组进行常规处理.采用焦虑自评量表( SAS)、抑郁自评量表(SDS)、视觉模拟量尺(VAS)于术前、术后进行评估并进行脉搏测量.结果 羊膜腔穿刺孕妇存在不同程度的焦虑、抑郁、恐惧情绪.干预组术后焦虑、抑郁、恐惧评分均低于对照组(P<0.001),干预组术后脉搏较术前减慢(P<0.05),且低于对照组(P<0.01).结论 综合心理干预有助于降低羊膜腔穿刺孕妇焦虑、抑郁、恐惧程度,减缓脉搏,改善情绪.%Objective To explore the effect of psychological intervention on feeling of anxiety, depression and fear in pregnant women receiving amniocentesis. Methods A total of 168 pregnant women receiving amniocentesis were divided into intervention group (82 cases) and control group (86 cases). Comprehensive psychological intervention, which consisted of health education, psychological support, music treatment and relaxation training, were carried out in intervention group before and after the operation of amniocentesis. The control group was treated with conventional therapy. All patients were assessed with self-rating anxiety scale ( SAS), self-rating depression scale ( SDS), visual analogue scale for fear (VAS) before and after the operation, pulse rate were measured meanwile. Results Pregnant women receiving amniocentesis had different degree of anxiety, depression and fear. Scores of SAS, SDS and VAS in intervention group was significantly lower than those in control group after the operation of amniocentesis (P<0.001). Pulse rate in intervention group were slowed down after the operation (P <0.05) and was significantly slower than that in control group (P <0. 01

  1. 羊膜腔穿刺用于胎儿染色体异常产前诊断的评价%Prenatal diagnosis value of amniocentesis for fetal chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    宋亦军; 刘丛丛; 刘俊涛; 边旭明

    2012-01-01

    Objective: To evaluate the prenatal diagnosis value of amniocentesis for aneuploidy. Methods: The amniocentesis was performed in 2nd trimester from Jan. 2005 to Dec. 2009 in prenatal diagnosis center of Peking Union Medical College Hospital. The data including the indication of amniocentesis, diagnosis results, procedure related miscarriage rate were retrospectively analyzed. Results: A total of 5,204 cases of amniocentesis were included in the analysis with 100% success rate. Among them, 93 cases of chromosome abnormality were found in 3,385 women in advanced maternal age (≥35 years old), and 50 cases of chromosome abnormality were found in the 1,846 women below 35 years. A total of 143 cases (2. 75%) of chromosome abnormality were diagnosed, forty-six (32. 2%) of them were trisomy 21, 18, 13, X, Y, which may cause severe malformation deformity. Among the 46 cases of severe chromosome abnormality, thirty (65. 2%) were women with advanced maternal age, while other 16 cases (34.8%) were women of age below 35 years. Seventeen cases of sex chromosome aneuploidy were diagnosed with 11 cases (64. 7%) in women with advanced maternal age and 6 cases (35. 3%) in women below 35 years. Procedure related miscarriage rate were 0. 13%. Conclusions; Amniocentesis with the assistant of instant ultrasound guidance was a reliable and relatively safe invasive prenatal diagnosis method in 2nd trimester. More accurate screening methods were needed to increase the detection rate and decrease the procedure related complication.%目的 评价孕中期羊膜腔穿刺进行胎儿非整倍体产前诊断的诊断率及安全性. 方法 回顾性总结北京协和医院产前诊断中心2005年1月至2009年12月进行的超声即时定位羊膜腔穿刺病例.对羊膜腔穿刺的指征、诊断结果、流产率等进行分析. 结果 共分析5,204例羊膜腔穿刺病例.羊膜腔穿刺成功率100%.其中高龄(≥35岁)组3,358例,发现染色体异常93例;低龄(<35岁)组1

  2. Effect of psychological nursing intervention on mental state of pregnant women with amniocentesis%心理护理干预对羊膜腔穿刺孕妇心理状态的影响

    Institute of Scientific and Technical Information of China (English)

    周旋

    2013-01-01

    Objective:To explore the effect of psychological nursing intervention on mental state of pregnant women with amniocentesis. Methods: 120 pregnant women who would undergo amniocentesis for prenatal diagnosis were randomly divided into the observation group and the control group( 60 cases in each group ). The conventional nursing measures were used in the control group and the psychological nursing intervention was implemented in the observation group. Symptom Checklist SCL - 90 ), Self - rating Anxiety Scale( SAS ), Self - rating Depression Scale( SDS ) and pain index were used to investigate the mental state of pregnant women in the two groups. Results:The scores of five factors like somatization, depression, anxiety, obsessive - compulsive disorder and interpersonal sensitivity of the pregnant women were significantly lower in the observation group than the control group after the intervention( P < 0. 05 ); the incidence of mild pain was significantly higher in the control group than the observation group( P <0.05 ). Conclusion: The complex psychological state exists in the pregnant women before, during and after amniocentesis. The effective and supportive psychological intervention should be given to the pregnant women in order to improve their psychological bearing capacity, ensure the smooth performance of amniocentesis and reduce the occurrence of risks.%目的:探讨心理护理干预对羊膜腔穿刺孕妇心理状态的影响.方法:将120例产前诊断羊膜腔穿刺的孕妇随机分为观察组和对照组各60例,对照组给予常规护理措施,观察组给予心理护理干预.采用症状自评量表(SCL-90)、焦虑自评量表(SAS)、抑郁自评量表(SDS)、疼痛指数等调查两组孕妇的心理状态.结果:干预后观察组孕妇的心理状态在躯体化、抑郁、焦虑、强迫、人际关系敏感等5个因子得分明显低于对照组(P<0.05),对照组轻度疼痛发生率明显高于观察组(P<0.05).结论:产前筛查高危

  3. The application of ultrasound-guided amniocentesis in prenatal diagnosis%B超引导下羊膜腔穿刺术在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    黄瑞霞; 孔敏莉; 刘广珍; 梁西岚; 陈小乐; 唐莉

    2011-01-01

    Objective To investigate the safety of B-type ultrasound-guided amniocentesis in prenatal diagnosis, and the values of karyotype analysis of amniocytes and detection of thalassemia gene. Methods 103 women with a gestational age of 16 to 27 weeks who had received ultrasound-guided amniocentesis during November 2009 to January 2011 were included in this study. The amniotic cell culture was performed for chromosomal analysis; For the couples who had the same thalassemia gene, detection of thalassemia gene in amniocytes was performed. Results Amniotic cell culture was successful in 102 of the 103 women. Abnormal karyotype was detectable in 9(8.8%)women, one of whom(11.1%)was 21- trisome and the remaining 8(88.9%)were other abnormal karyotypes. Thalassemia gene was detectable in 24 women, 5 of them(20.8%)had major thalassemia. Conclusions For the pregnant women with abnormal prenatal diagnosis, it is highly necessary to administer ultrasound-guided amniocentesis for karyotype analysis of amniocytes and detection of thalassemia gene. Ultrasound-guided amniocentesis is a safe, effective, reliable, invasive method of prenatal diagnosis.%目的 探讨B超引导下的羊膜腔穿刺术在产前诊断应用中的安全性及羊水细胞染色体核型分析、地中海贫血基因检测在产前诊断中的应用价值.方法 选取2009年11月至2011年1月妊娠16~27周在茂名市妇幼保健院行B超引导下羊膜腔穿刺术的孕妇103例,对羊水中胎儿脱落细胞进行培养,做染色体核型分析;夫妇双方同种类型地中海贫血者,行羊水细胞地中海贫血基因检测.结果 B超引导下的羊膜腔穿刺术103例.羊水细胞培养成功102例,检出异常核型9例,检出率为8.8%,其中三体综合征1例,占11.1%,其他异常8例,占88.9%;羊水地中海贫血基因检测24例,其中重犁地中海贫血5例,占20.8%.结论 产前针对有指征的孕妇于中孕期行B超引导下羊膜腔穿刺术,进行羊水细胞培养染色体核

  4. Effects of amniocentesis on anxiety psychologic status of pregnant women%超声引导下羊膜腔穿刺对孕妇心理影响的调查

    Institute of Scientific and Technical Information of China (English)

    徐志红; 李怡巍; 廖娟; 李成

    2012-01-01

    Objective To study the effect of amniocentesis on the anxiety psychologic status of pregnant women. Methods 282 Han nationality pregnant women preparing to undergo amniocentesis ( amniocentesis group) and 280 Han nationality pregnant women with routine antenatal care but not with amniocentesis (control group) were included. Self-Rating Scale(SAS) questionnaires were used in the study. The indications for amniocentesis were abnormal maternal serum for Down syndrome (110 cases), women who had previously given birth with a chromosomal disorder (5cases) and advanced maternal age (146cases). Individual event βhCGMOM level ≥2. 5(16cases) .Individual event AFPMOM level≤ 0. 4 level (2cases),Nuchal translucency 1 case.chromosomally abnormal carriers in either of the parents (2cases). Results The mean anxiety scores in the amniocentsis group (44. 81 ±8. 06) was higher than that in the control group (34. 84± 5. 21,P=0. 000). In the amniocentsis group, with abnormal maternal serium screene for Down syndrome women had higher anxiety scores than those with advanced maternal age (41. 20±7. 55 vs 34. 84±5. 21, P = 0. 000). Conclusion Genetic amniocentesis might cause psychological stress and increase psychological burden. It is necessary to provide medical suggestion for these pregnant women.%目的 了解超声引导下羊膜腔穿刺术对孕妇的心理影响及相关需求,以便采取针对性的措施.方法 选择产科门诊拟行羊膜腔穿刺术、孕周为18~25周的汉族孕妇282例为研究对象(羊膜腔穿刺指征为:血清筛查唐氏综合征高风险110例,单项βhCGMOM值≥2.5有16例,单项AFPMOM值≤0.4有2例,高龄孕妇146例,曾分娩染色体异常、畸形患儿5例,颈部透明带厚1例,夫妇一方染色体异常携带2例).选择相应孕周的非羊膜腔穿刺术汉族孕妇280例做对照.进行焦虑自评量表(SAS,Zung)测定.结果 ①穿刺组孕妇的焦虑评分(44.81±8.06)高于对照组孕妇(34.84±5.21),

  5. Risk of intrauterine fetal infection in pregnant women infected with HBV after amniocentesis%乙肝病毒携带孕妇羊膜腔穿刺术后胎儿宫内感染的风险

    Institute of Scientific and Technical Information of China (English)

    陈映婷; 潘丽; 苏文

    2014-01-01

    目的:探讨乙肝病毒(hepatitis B virus, HBV)携带孕妇羊膜腔穿刺术后胎儿宫内感染的风险是否增加,以便对HBV携带孕妇提供科学的产前诊断指导。方法用酶联免疫吸附法及实时荧光定量PCR法检测178例HBV携带孕妇血清、新生儿脐血、出生后6月龄婴儿外周血HBV血清学标志物及HBV-DNA载量。41例行羊膜腔穿刺术为实验组,137例未行羊膜腔穿刺为对照组。两组内根据孕期不同HBV携带情况及胎盘位置分为:乙肝病毒表面抗原(Hepatitis B virus surface antigen,HBsAg)阳性、乙肝病毒e抗原(viral hepatitis B virus e antigen,HBeAg)阴性组;HBsAg阳性、HBeAg阳性组;HBV-DNA0.05)。结论当孕妇HBV-DNA≥1.0×107 cps/ml时,羊膜腔穿刺术可能增加胎儿宫内感染的风险。其它HBV携带情况及不同胎盘位置,羊膜腔穿刺术并不增加胎儿宫内感染的风险。故对有产前诊断指征的HBV携带孕妇,需在产前诊断前对其进行HBV-DNA检测及分级,根据检测结果进行科学的产前诊断指导。%Objective To investigate the risk of intrauterine fetal infection in pregnant women infected with HBV=after amniocentesis and provide scientific guidance for prenatal diagnosis. Methods HBV serological markers and HBV-DNA load of HBV carrier maternal blood, neonatal cord blood and peripheral blood of 6-month-old infants in 178 cases were detected by using ELISA and real-time PCR method. All the cases were divided into two groups, the experimental group (n=41) which pregnant women infected with HBV accepted amniocentesis, and the control group(n=137)which the pregnant women infected with HBV did not receive amniocentesis. According to the different HBV carrying case and placental location both groups are divided into:the hepatitis B virus surface antigen (HBsAg)-positive, hepatitis B virus e antigen (HBeAg)-negative group; HBsAg positive, HBeAg-positive group; HBV-DNA <1.0 × 103 cps

  6. 羊膜腔穿刺对乙型肝炎病毒母婴传播的影响%Influence of amniocentesis on risk of mother-to-child transmission of hepatitis B virus

    Institute of Scientific and Technical Information of China (English)

    冯静; 李洁; 刘景丽; 朱海燕; 朱湘玉; 周乙华; 胡娅莉

    2015-01-01

    Objective To investigate whether amniocentesis may increase the risk for mother-tochild transmission of hepatitis B virus (HBV).Methods Totally 40 children born to HBV-infected mothers who had amniocentesis performed in Nanjing Drum Tower Hospital, Nanjing University Medical School from January 2010 to December 2013, were followed up and screened for HBV markers.Amniotic fluid samples were collected and stored at-80 ℃ were tested for HBV markers.Among the 40 carrier mothers, three (7.5%) were hepatitis B e antigen (HBeAg)-positive.Relevant data such as antiviral history, administration of hepatitis B vaccine and hepatitis B immunoglobulin (HBIG) in infants were collected.Chi-square test or Fisher's exact test was used for statistical analysis.Results The mothers were 21-41 years old, with a mean age of (31.5±5.5) years at the time of amniocentesis and mean gestational age of (21.2± 1.6) weeks (18.4-24.9 weeks).Indications for amniocentesis were mainly abnormal maternal serum alpha-fetoprotein levels (65.0%, 26/40)and maternal age over 35 years (10.0%, 4/40).None of the mothers received antiviral therapy and 14 (35.0%)underwent transplacental amniocentesis.Among 28 cases who had a store of amniotic fluid sample and were followed-up, one (7.1%) was positive for both hepatitis B surface antigen (HBsAg) and HBV DNA, and another was positive for HBsAg only.The average age of 40 children at follow-up was (2.0± 1.0) years (seven months to four years old), among which 23 were boys and 17 were girls.All of them received hepatitis B vaccine and HBIG.Positive rate of HBsAg and HBV DNA in HBeAg(+) mothers are higher than those in HBeAg(-) mothers [4.7%(2/43) vs 3/5, x2=14.705;0/43 vs 2/5, x2=17.948;both P < 0.05].Thirty-seven children born to HBsAg(+)/HBeAg(-) mothers were negative for both HBsAg and hepatitis B core antibody (anti-HBc), and the other three born to HBsAg(+)/HBeAg(+) mothers were also negative for HBsAg and anti-HBc.Additionally, the positive

  7. 2250例羊膜腔穿刺产前诊断指征及其结果分析%Analysis on the indications of prenatal diagnosis and results of amniocentesis in 2 250 cases

    Institute of Scientific and Technical Information of China (English)

    郭丹华; 何德钦; 李英; 吴小青; 徐两蒲; 林娜; 谢晓蕊; 林元

    2012-01-01

    Objective; To explore the clinical significance of invasive prenatal diagnosis (amniocentesis) in women with different indications. Methods: The indications of invasive prenatal diagnosis and the detection rate of abnormal karyotypes of exfoliative cells in am-niotic fluid of 2 250 pregnant women were analyzed retrospectively. Results; Among 2 250 cases, 124 cases were found with abnormal karyotypes , the detection rate was 5. 5%. The detection rates of abnormal karyotypes in women with different indications of invasive prenatal diagnosis were 33. 3% (one of the couple with chromosomal abnormality) ,11. 6% (abnormal foundings through fetal ultrasonography) , 5. 1% (advanced maternal age) , 4. 3% (prenatal serological screening abnormality) , and 2. 1% (Down's syndrome) , respectively. Conclusion; Amniocentesis is a safe and effective invasive prenatal diagnosis method, which can prevent the birth of children with chromosomal diseases effectively.%目的:探讨不同指征介入性产前诊断(羊膜腔穿刺)的临床意义.方法:回顾性分析2 250例孕妇介入性产前诊断指征及其羊水脱落细胞异常核型检出率.结果:2 250例中,共检出异常核型124例,检出率5.5%.各种介入性产前诊断指征异常核型检出率依次为:夫妇一方染色体异常占33.3%,胎儿超声异常占11.6%,高龄孕妇占5.1%,产前血清学筛查异常占4.3%,唐氏综合征患儿生育史占2.1%.结论:羊膜腔穿刺是安全、有效的介入性产前诊断方法,可有效地预防染色体病患儿的出生.

  8. Risks of ultrasound-guide amniocentesis and cordocentesis for prenatal diagnosis%B超引导下脐带及羊膜腔穿刺术风险评估

    Institute of Scientific and Technical Information of China (English)

    应萍; 陈小明; 张秀兰

    2011-01-01

    Objective: To assess the potential risks of ultrasound -guide amniocentesis and cordocentesis for prenatal diagnosis.Methods: From November 2007 to October 2008, 1015 cases who had prenatal diagnosis in our hospital were reviewed, and the pregnant outcomes were followed up by phone. Results: In all cases, there were 18 loss of follow -up and 57 induced labor because of fetal malformation. There were totally 4 cases of fetal loss, one of them had occurred after cordocentesis which were performed twice and through placenta while the other 3 cases happened after operation without through placenta. Conclusion: It may increase the risk of fetal loss that amniocentesis or cordocentesis is taken through placenta, especially with more times of operation.%目的 评价B超引导下脐带及羊膜腔穿刺术的安全性和潜在的风险,为进一步规范操作提供理论依据.方法 回顾本院2008年1月~2009年1月份,在本院进行产前诊断病例总1015例,所有病例进行电话随访至分娩后.对是否经过胎盘穿刺以及不同穿刺次数与妊娠结局之间的关系进行比较.结果 所有病例中,57例因诊断为胎儿异常行引产术,18例失访,剩下940病例中,非引产胎儿自然流失共4例(0.43%),其中1例为经过胎盘且穿刺2次以上者(3.03%),另3例为未经胎盘穿刺者(0.48%).结论 经过胎盘穿刺时,增加穿刺次数可能会增加胎儿不良结局的发生.

  9. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.

    Science.gov (United States)

    Charlwood, J; Clayton, P; Keir, G; Mian, N; Young, E; Winchester, B

    1998-07-01

    Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following amniocentesis. Normal PMM activity was found in cultured amniotic fluid cells and there was no elevation of lysosomal enzymes in the amniotic fluid. Genetic linkage analysis using microsatellite markers closely linked to the CDG1A gene confirmed this prediction. A healthy child was born. In the second family direct assay of chorionic villi showed a profound deficiency of PMM and genetic linkage analysis showed the fetus to have the same haplotype as the proband. The pregnancy was terminated and a deficiency of PMM was confirmed in cultured fibroblasts from the fetus. Reliable prenatal diagnosis of CDG Type 1A (PMM-deficient) can be achieved by a combination of biochemical and molecular genetic tests.

  10. P450氧化还原酶缺陷症的临床表现和羊水穿刺产前诊断的意义%P450 oxidoreductase deficiency: clinical manifestations and prenatal diagnosis by amniocentesis

    Institute of Scientific and Technical Information of China (English)

    茅江峰; 聂敏; 高劲松; 徐洪丽; 卢双玉; 伍学焱

    2013-01-01

    目的 本研究旨在增加对P450氧化还原酶(POR)缺陷症发病机制和临床表现的认识,探讨羊水穿刺进行POR基因检测对产前诊断的重要意义.方法 对1例孕妇的既往异常妊娠史和胎儿的畸形进行描述;对孕妇及其配偶的POR基因进行检测;在本次妊娠时,对羊水细胞POR基因进行检测;对分娩胎儿的外生殖器和骨骼进行评价.结果 1)此孕妇在既往首次妊娠时出现声音低沉、痤疮增多等显著男性化表现;首次分娩双胎,均有肘关节骨融合、阴蒂肥大和脑瘫,经救治无效而死亡.2)此孕妇及其配偶的POR基因检测证实,男方存在POR基因的杂合突变(G1370A、Arg457His).3)当此孕妇再次妊娠达20周时,对羊水细胞进行POR基因检测未发现突变.4)足月顺产1女婴,外生殖器和骨骼正常.结论 羊水穿刺进行POR基因检测有助于获得此疾病相关的基因信息,指导妊娠决策.%Objective To investigate the values of P450 oxidoreductase (POR) gene test by amniocentesis for prenatal diagnosis in a pregnant woman whose husband has a heterozygous mutation in POR gene. Methods The abnormal pregnant history in mother and genitalia deformities in her fetus were described. POR gene from the woman and her husband was tested by PCR. During her second pregnancy, the cells from amniotic fluid were collected for POR gene test. The external genitalia and bone status were evaluated after birth. Results 1) the woman presented excessive virilization, such as deepen voice and facial acnes, during her first pregnancy. Her baby twins, manifesting elbow osseous fusion, clitoridauxe and cerebral palsy, died 2 weeks after birth. 2) A heterozygous mutation in POR gene (G1370A, Arg457His) was revealed in the peripheral blood cells from her husband. 3) During her second pregnancy, amniocentesis was conducted and POR gene test for cells from amniotic fluid was negative. 4) A female baby was born with normal external genitalia and

  11. 羊膜腔穿刺与经皮脐血取样在重型α-地中海贫血产前诊断的对比分析%The contrastive analysis between amniocentesis and percutaneous umbilical cord blood sampling in the prenatal diagnosis of gravis type α-thalassemia

    Institute of Scientific and Technical Information of China (English)

    田矛; 万里凯; 覃婷; 李友琼

    2012-01-01

    目的:探讨羊膜腔穿刺与经皮脐血取样在重型α-地中海贫血产前诊断中的手术指征特点、检出情况、诊断所需时间以及妊娠结局等方面的差异,为早诊断及早干预提供客观依据.方法:以夫妇双方诊断为α-地贫1缺失突变和孕中晚期胎儿超声异常为指征,在超声引导下行羊膜腔穿刺(72例次)或经皮脐血取样(14例次)进行α-地贫基因检测,主要检测东南亚缺失--SEA和罕见的泰国型缺失--THAI,脐血还送血红蛋白电泳检测.结果:羊水组穿刺平均孕周早于脐血组,差异有统计学意义(P<0.01);重型α-地贫羊水组17例,检出率23.61%,脐血组7例,检出率50.00%,两组差异有统计学意义(P<0.05),其中脐血组有1例为罕见的泰国缺失与东南亚缺失双重杂合子(--THAI/--SEA);母体合并症并发症发生率羊水组17.65%,脐血组为86.17%,两组差异有统计学意义(P<0.01).两组检出的重型α-地贫胎儿均给予终止妊娠引产.结论:羊水组穿刺孕周及终止妊娠孕周明显早于脐血组,相对诊断时间早,母体发生合并症并发症少;而脐血组对重型α-地贫胎儿检出率明显高于羊水组,且脐血血红蛋白电泳可快速诊断重型α-地贫胎儿,是一个补救的措施.%Objective; To investigate the difference between amniocentesis and PUBS include the indication of invasive operation, the detection of gravis type α - thalassemia, the time we need and the pregnancy outcomes in the prenatal diagnosis, in order to offer the objective evidence for early diagnoses and intervention. Methods: The indication of operation was the a - thalassemia 1 deletions had been both detected in the couples and some of their fetal ultrasound was anomalism. There were 72 cases in the amniocentesis group and 14 cases in PUBS group, the samples been taken to a - thalassemia gene test, the common α - thalassemia 1 deletions are the Southeast Asian ( -- SEA ) and infrequent was

  12. Twins reunited: scientific and personal perspectives/twin research studies: multiple birth effects on IQ and body size; life style, muscles, and metabolism; monochorionic dizygotic twin with blood chimerism; amniocentesis for twins/twins in the media: identical doctors; freedom fighter for twins; twin scholarships; Auguste and Jean-Felix Piccard; twins born apart.

    Science.gov (United States)

    Segal, Nancy L; Mulligan, Christy A

    2014-04-01

    A reunion of 38-year-old female monozygotic twins took place in Daegu, South Korea, on January 14, 2014. Scientific and personal perspectives on this extraordinary event are provided. A review of timely twin research follows, covering the effects of multiple births on IQ and body size, lifestyle and physical fitness associations, a rare case of a dizygotic twin with blood chimerism and definitional issues surrounding amniocentesis-related loss in multiple birth pregnancies. Interesting and informative mention of twins in the media includes twin doctors, a twin freedom fighter, the availability of college scholarships for twins, a new book about the Piccard family (two of whose members were twins), and co-twins born before and after the new year. A follow-up to a previous mention of identical twin biatheletes is also provided.

  13. To contrastive analyze the difference between amniocentesis and PUBS by ultrasonic guidance about the indication feature & detection of chromosome disease%超声引导羊膜腔穿刺与经皮脐血穿刺取样指征分布及对染色体病检出情况的对比分析

    Institute of Scientific and Technical Information of China (English)

    田矛; 万里凯; 覃婷; 莫伟英

    2012-01-01

    To contrastive analyze the difference between amniocerttesis and PUBS by ultrasonic guidance about the indication feature & detection Of chromosome disease. TIANMao, WAN Lin-kai, QIN Ting, MO Wei -ying () Abstract: Objective: Investigate the difference between the amniocentesia and PUBS by ultrasonic guidance in prenatal diagnosis about the ages, gestational weeks in the operation, indication feature, and the detection of chromosome disease, in order to offer the experience about the prenatal diagnosis. Methods: Retrospection analysis had been taken in those pregnant women who been checked karyotype include 2030 cases amniocentesis and 173 cases PUBS since 2004 to 2011, we contrasted the difference of age, the gestational weeks in operation, indication feature, and detection of chromosome disease. Result: the age of pregnant woman, the amniocentesis groups is obviously bigger than PUBS group (32. 42 ±4. 96vs 29. 87 ±4. 91 years, P <0. 05); the gestational weeks of operation, amniocentesis groups is obviously smaller than PUBS (20. 87 ± 1. 59vs 28. 52 ± 3. 81 P < 0. 05) ; the indication feature, the age of pregnant woman ≥ 35 years old is the most indication in the amniocentesis group, they also have the high risk of maternal serum screening, NT≥2. 5, and the history of habitual abortion, but the fetal anomalism in ultrasound is the main one in the PUBS group ( Z -- 4. 03, P = 0. 000) ; PUBS group is higher than amniocentesis group in the detection of chromosome disease (8. 67% vs 0. 99% , x2 = 60. 221, P =0. 000). Conclusion; The amniocentesis is still the one of common method in prenatal diagnosis, because the indication of it have been controlled earlier, and the operation, detection are earlier too, but the PUBS is a remedial method, as the detection rate is higher even the fetal anomalism checking by ultrasonography is later usually in the PUBS group.%目的 探讨产前诊断中在超声引导下经皮羊膜腔穿刺及脐血穿刺取样两组的年

  14. One case of pseudomosaic trisomy 20 prenatally diagnosed by amniocentesis at second trimester%妊娠中期产前诊断羊水20-三体假性嵌合体一例

    Institute of Scientific and Technical Information of China (English)

    戚庆炜; 郝娜; 周京; 刘俊涛; 边旭明

    2014-01-01

    目的:总结妊娠中期羊水20-三体假性嵌合体的产前诊断及遗传咨询的特点。方法对1例妊娠中期羊水20-三体假性嵌合体病例及相关文献进行分析。结果孕妇31岁,妊1产0,妊娠16周时,母体血清学筛查提示胎儿21-三体风险值为1/200,于2012年9月妊娠18周行羊膜腔穿刺术。采用GLP13/GLP21/CSP18/CSPX/CSPY探针的羊水间期细胞荧光原位杂交(fluorescence in situ hybridization,FISH)分析未见异常信号,羊水细胞培养和染色体核型分析结果为47,XY,+20[7]/46,XY[9],三体细胞系占7/16。进一步行脐静脉穿刺,脐血染色体核型为46,XY。对羊水间期细胞行D20Z1(20p11.1-q11.1)和D20S1157/20QTEL14(20per/qter)探针的 FISH 分析,各个探针在所有细胞中均只出现2个信号。妊娠24周行系统胎儿超声检查未见异常。综合分析上述情况,考虑该20-三体嵌合体为假性嵌合体。孕妇及其家属决定继续妊娠,至妊娠39周经阴道分娩一男性活婴,儿科体格检查未见异常。该婴儿随访至生后7个月,外观及发育未见异常。取该婴儿外周血查染色体核型为46,XY,同时取其口腔颊黏膜脱落细胞行D20Z1、D20S1157/20QTEL14探针的间期FISH分析,在所有细胞中均只出现2个信号,进一步证实产前诊断的结果。结论对羊水20-三体嵌合体需进行充分评估,对孕妇及配偶进行充分的产前咨询。间期FISH对评估嵌合体具有重要价值。产后应对多种组织行染色体核型分析或间期FISH的复核。%Objective To investigate the prenatal diagnosis and prenatal genetic conselling of pseudomosaic trisomy 20. Methods One case of pseudomosaic trisomy 20 was analyzed and relative literatures were reviewed. Results A 31-year-old gravid 1, para 0 woman underwent amniocentesis at 18 weeks of gestation due to high risk of trisomy 21 during maternal serum screening in September, 2012. Interphase fluorescence

  15. The Detection Rate of Fetal Chromosomal Abnormalities in Patients With Different Indications of Amniocentesis%不同羊膜腔穿刺适应证患者的染色体异常核型检出情况分析

    Institute of Scientific and Technical Information of China (English)

    赵晓曦; 谷孝月; 武艾宁; 于荣鑫

    2014-01-01

    Objective To evaluate the detection rate of fetal chromosomal abnormalities in patients with different indications of amniocentesis and their genetic counseling.Methods From January 2009 and December 2013,a total of 520 pregnant women who underwent amniocentesis in the First Affiliate Hospital of Inner Mongolia University were included in the study.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Affiliate Hospital of Inner Mongolia Medical University.Informed consent was obtained from each participants.The detection rates of fetal chromosomal abnormalities in patients with different indications of amniocentesis were analyzed.Results Chromosomal abnormalities were observed in 4.42% (23/520 )of the samples.The detection rates of chromosomal abnormalities for each indication were 1.45% (3/206 )in advanced maternal age,3.1 5% (7/222 )in the increasing-risk maternal triple-marker screening test,12.72% (7/55 )in the abnormal ultrasound finding, 0 (0/29)for family history of chromosomal abnormality,80.00% (4/5)for the increasing-risk in the non-invasive prenatal testing, 66.67% (2/3 ) in one of the parents carrying abnormal chromosome. Conclusions The detection rate of fetal chromosomal abnormalities in amniocentesis is low.The result of ultrasound examination and non-invasive prenatal testing were helpful to enhance that rate.%目的:分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率及其遗传咨询方法。方法选择2009年1月至2013年12月于内蒙古医科大学附属医院行羊膜腔穿刺胎儿染色体检查的523例患者中羊水细胞培养成功的520例患者为研究对象。本研究遵循的程序符合本研究遵循的程序符合内蒙古医科大学附属医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象本人的知情同意,与之签署临床研究知情同意书。分析不同羊膜腔穿刺适应证患者的

  16. 45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones.

    Science.gov (United States)

    Hecht, F; Hecht, B K

    1982-07-01

    Amniocyte clones from a mild-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.

  17. Chromosomal abnormality rates at amniocentesis and in live-born infants.

    Science.gov (United States)

    Hook, E B; Cross, P K; Schreinemachers, D M

    1983-04-15

    Regression-smoothed maternal age-specific rates of six different categories of cytogenetic abnormalities in recent large-scale prenatal cytogenetic studies were multiplied by independently derived fetal selection coefficients--factors that adjust for the excess likelihood of spontaneous loss of cytogenetically abnormal fetuses--to obtain estimated maternal age-specific rates of these categories of cytogenetic abnormalities in live-born infants. The derived rates apply to women whose only risk factor is advanced maternal age. The categories analyzed were 47,+21 (Down's syndrome), 47,+18 (Edwards' syndrome), 47,+13 (Patau's syndrome), 47,XXY (Klinefelter's syndrome), 47,XXX, and the group of other clinically significant abnormalities considered collectively. The rate of all clinically significant abnormalities considered together derived in this study was about five per 1,000 at age 35 years, 15 per 1,000 at age 40 years, and 50 per 1,000 at age 45 years.

  18. Design and usability of heuristic-based deliberation tools for women facing amniocentesis.

    NARCIS (Netherlands)

    Durand, M.A.; Wegwarth, O.; Boivin, J.; Elwyn, G.

    2012-01-01

    BACKGROUND: Evidence suggests that in decision contexts characterized by uncertainty and time constraints (e.g. health-care decisions), fast and frugal decision-making strategies (heuristics) may perform better than complex rules of reasoning. OBJECTIVE: To examine whether it is possible to design

  19. Amniocentesis In Prenatal Diagnosis%羊膜腔穿刺术在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    宋朝晖; 王丹

    2011-01-01

    目的:探讨羊膜腔穿刺术在产前诊断中的应用指征及安全性.方法:对因各种原因进行产前诊断的孕妇进行羊膜腔穿刺术.结果:穿刺成功率100%,共检出染色体异常9例.结论:超声引导下羊膜腔穿刺术简易安全,易于患者理解和接受,是介入性产前诊断的主要方法之一.

  20. Human Amniotic Fluid Mesenchymal Stem Cells from Second- and Third-Trimester Amniocentesis: Differentiation Potential, Molecular Signature, and Proteome Analysis

    Directory of Open Access Journals (Sweden)

    Jurate Savickiene

    2015-01-01

    Full Text Available Human amniotic fluid stem cells have become an attractive stem cell source for potential applications in regenerative medicine and tissue engineering. The aim of this study was to characterize amniotic fluid-derived mesenchymal stem cells (AF-MSCs from second- and third-trimester of gestation. Using two-stage protocol, MSCs were successfully cultured and exhibited typical stem cell morphological, specific cell surface, and pluripotency markers characteristics. AF-MSCs differentiated into adipocytes, osteocytes, chondrocytes, myocytes, and neuronal cells, as determined by morphological changes, cell staining, and RT-qPCR showing the tissue-specific gene presence for differentiated cell lineages. Using SYNAPT G2 High Definition Mass Spectrometry technique approach, we performed for the first time the comparative proteomic analysis between undifferentiated AF-MSCs from late trimester of gestation and differentiated into myogenic, adipogenic, osteogenic, and neurogenic lineages. The analysis of the functional and expression patterns of 250 high abundance proteins selected from more than 1400 demonstrated the similar proteome of cultured and differentiated AF-MSCs but the unique changes in their expression profile during cell differentiation that may help the identification of key markers in differentiated cells. Our results provide evidence that human amniotic fluid of second- and third-trimester contains stem cells with multilineage potential and may be attractive source for clinical applications.

  1. Urine Blockage in Newborns

    Science.gov (United States)

    ... show enlarged kidneys, ureters, or bladders in babies. Amniocentesis. Amniocentesis is a procedure in which amniotic fluid is ... these tests. Ultrasound exams during pregnancy are routine. Amniocentesis and CVS are recommended only when a risk ...

  2. How Do Health Care Providers Diagnose Intellectual & Developmental Disabilities (IDDs)?

    Science.gov (United States)

    ... There are two main types of prenatal tests. Amniocentesis 5 Amniocentesis (pronounced am-nee-oh-sen-TEE-sis ) is ... problems. Some IDDs that can be detected with amniocentesis are Down syndrome and certain types of muscular ...

  3. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... are offered to all pregnant women. What is amniocentesis? Amniocentesis is a diagnostic test. It usually is done ... a very small chance of pregnancy loss with amniocentesis. Leakage of amniotic fluid and slight bleeding can ...

  4. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... main types of prenatal tests for birth defects. Amniocentesis 1 Amniocentesis (pronounced am-nee-oh-sen-TEE-sis ) is ... Some birth defects that can be detected with amniocentesis are Down syndrome and certain types of muscular ...

  5. Genetic Testing (For Parents)

    Science.gov (United States)

    ... before birth, pregnant women may decide to undergo amniocentesis or chorionic villus sampling. There is also a ... If this screening test finds a possible problem, amniocentesis or chorionic villus sampling may be recommended. Amniocentesis ...

  6. The nursing on 224 cases of amniocentesis%羊膜腔穿刺术224例患者的护理

    Institute of Scientific and Technical Information of China (English)

    张瑞女; 张礼婕; 雷桔红

    2010-01-01

    目的 探讨B超引导下羊膜腔穿刺术的术前、术中、术后的护理措施.方法 对224例行该手术的孕妇在术前、术中、术后各期进行相应的护理措施.结果 所有孕妇均能一次穿刺成功,无流产、感染等并发症.结论 B超引导下羊膜腔穿刺术是一种简便、安全、易行的检查方法,但细致、周到的护理是手术成功的重要保证.

  7. 经腹羊膜腔穿刺术的观察及护理%Observation and care of transabdominal amniocentesis

    Institute of Scientific and Technical Information of China (English)

    张静

    2011-01-01

    @@ 羊膜腔穿刺术是在B超监测下用穿刺针穿过腹壁和子宫进入羊膜腔吸取少量羊水,获取胎儿细胞的方法,是产科常用的诊断治疗技术,对产前诊断、胎儿成熟度的监测及某些高危妊娠的治疗起到重要作用,但它毕竟是一种侵入性的操作,故提高穿刺术前护理、术中配合、术后护理,减少穿刺并发症的产生,对于保障母婴安全、进而使这一技术更广泛应用于临床具有重要意义[1].我院于2009年5月-2010年4月,对516例有羊膜腔穿刺术指征的孕妇进行了B超引导下的羊膜腔穿刺术,一次成功率为93%,减少了流产、感染等并发症的发生.现将羊膜腔穿刺术的观察和护理体会报告如下.

  8. 羊水穿刺超声定位的有关问题探讨%Questions about ultrasound locatization of amniocentesis

    Institute of Scientific and Technical Information of China (English)

    涂长玉; 程敏; 李华锋; 李炳星; 卢永收

    2009-01-01

    目的 探讨羊膜腔穿刺术超声定位的有关问题.方法 对203例妊娠16~24周孕妇在超声定位下羊水穿刺,进行羊水细胞制备染色体分析.结果 203例均穿刺成功,其中一次穿刺201例,两次穿刺2例.术后随访无1例妊娠丢失.结论 熟练的技术、准确的定位和穿刺点选择及灵活的超声引导技巧有助于提高对超声引导下羊膜腔穿刺术的成功率.

  9. THE CLINICAL CASE ANALYSIS OF HISTORY BY AMNIOCENTESIS%羊膜穿刺术的临床病历分析

    Institute of Scientific and Technical Information of China (English)

    武艾宁; 其木格; 赵晓曦

    2010-01-01

    目的:分析羊膜波细胞染色体核型,了解高风险人群中异常染色体出现的频率、类型.方珐:对51例具有产前诊断指征即母血清筛查染色体异常高风险,高龄孕妇,不良产史,夫妇一方有染色体异常,曾生育过染色体病患儿的孕妇等进行孕中期羊膜穿刺术,抽取羊膜液进行培养与染色体分析.结果:发现异常核型3例,异常检出率为5.88%.证实了羊膜液细胞培养与染色体核型分析,在产前诊断中起重要作用.结论:对具有产前诊断指征的孕妇进行产前诊断,羊膜液细胞培养及染色体核型分析,可防止缺陷儿的出生,提高人口素质.

  10. 294例羊膜腔穿刺术术中配合体会%Nursing realization of 294 cases with amniocentesis

    Institute of Scientific and Technical Information of China (English)

    康云玲

    2005-01-01

    对羊水细胞进行染色体分析是产前诊断胎儿先天畸形及遗传性疾病的方法之一。羊水细胞培养是否成功是进行细胞遗传学诊断的关键,但护士与实施穿刺术医生的配合也至关重要。我们对294例孕妇实施了羊膜腔穿刺手术,无胎儿丢失及胎儿损伤。羊水细胞培养无污染,取得理想的诊疗效果,现将羊膜腔穿刺术配合体会报道如下。

  11. How Do Health Care Providers Diagnose Down Syndrome?

    Science.gov (United States)

    ... The following procedures are used to extract samples. Amniocentesis (pronounced am-nee-oh-sen-TEE-sis ). A ... and can confirm the results of CVS or amniocentesis. However, PUBS cannot be performed until later in ...

  12. Amniotic fluid

    Science.gov (United States)

    ... carefully. Removing a sample of the fluid through amniocentesis can provide information about the sex, health, and development of the fetus. Images Amniocentesis Amniotic fluid Polyhydramnios Amniotic fluid References Cunningham FG, ...

  13. Cystic Fibrosis: Prenatal Screening and Diagnosis

    Science.gov (United States)

    ... other disorders are chorionic villus sampling (CVS) and amniocentesis (see FAQ164 "Diagnostic Tests for Birth Defects" ). CVS ... be performed after 9 completed weeks of pregnancy. Amniocentesis can be performed between 15 weeks and 20 ...

  14. How Do Health Care Providers Diagnose Osteogenesis Imperfecta?

    Science.gov (United States)

    ... ee-on-ik VILL-uhs ) sampling (CVS) or amniocentesis (pronounced am-nee-oh-sen-TEE-sis ). The ... tested for the presence of abnormal collagen. For amniocentesis, a health care provider takes a small amount ...

  15. Seizure Disorders in Pregnancy

    Science.gov (United States)

    ... defects. Diagnostic testing, including a targeted ultrasound exam, amniocentesis , or chorionic villus sampling , can be done to ... is not enough to affect the baby. Glossary Amniocentesis: A procedure in which a needle is used ...

  16. How Is Cystic Fibrosis Diagnosed?

    Science.gov (United States)

    ... whether your fetus has CF. These tests include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic ... re-ON-ik VIL-us) sampling (CVS). In amniocentesis, your doctor inserts a hollow needle through your ...

  17. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  18. Rh Factor: How It Can Affect Your Pregnancy

    Science.gov (United States)

    ... has had any of the following during pregnancy: Amniocentesis Chorionic villus sampling (CVS) Bleeding during pregnancy Manual ... After a miscarriage, abortion, or ectopic pregnancy After amniocentesis or chorionic villus sampling What if I am ...

  19. Genetic Disorders

    Science.gov (United States)

    ... done on cells from the fetus obtained through amniocentesis , chorionic villus sampling , or, rarely, fetal blood sampling. ... the option of not continuing the pregnancy. Glossary Amniocentesis: A procedure in which a needle is used ...

  20. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  1. Medical Care during Pregnancy

    Science.gov (United States)

    ... that might be recommended can include the following: Amniocentesis (also called an amnio): In this test, a ... such as Down syndrome or spina bifida. Typically, amniocentesis is recommended only if there is reason to ...

  2. Pregnancy Complications: Umbilical Cord Abnormalities

    Science.gov (United States)

    ... defects. These tests may include a detailed ultrasound, amniocentesis (to check for chromosomal abnormalities) and in some ... the provider may recommend additional tests, such as amniocentesis and a detailed ultrasound, to diagnose or rule ...

  3. Cytomegalovirus

    Science.gov (United States)

    ... virus, your doctor may suggest a test called amniocentesis. During this test, a needle is inserted into ... familydoctor.org editorial staff Tags: Allergy and Immunologic, Amniocentesis, child, fever, infant, jaundice, newborn, Throat Pain, weakness ...

  4. Routine Tests in Pregnancy

    Science.gov (United States)

    ... during pregnancy? Diagnostic tests for birth defects include amniocentesis , chorionic villus sampling , and a targeted ultrasound exam. ... damaged by infection with human immunodeficiency virus (HIV). Amniocentesis: A procedure in which a needle is used ...

  5. Cordocentesis

    Science.gov (United States)

    ... decreasing. This is because diagnostic procedures such as amniocentesis and chorionic villus sampling, which pose a lower ... when a diagnosis can't be obtained from amniocentesis, chorionic villus sampling, ultrasound or other methods. Because ...

  6. Screening Tests for Birth Defects

    Science.gov (United States)

    ... condition and are done on cells obtained through amniocentesis , chorionic villus sampling , or, rarely, fetal blood sampling. ... and, in smaller amounts, in the mother’s blood. Amniocentesis: A procedure in which a needle is used ...

  7. Toxoplasmosis

    Science.gov (United States)

    ... is infected. Tests your doctor may recommend include: Amniocentesis. In this procedure, which may be done safely ... the fluid to check for evidence of toxoplasmosis. Amniocentesis carries a slight risk of miscarriage and minor ...

  8. Karyotyping

    Science.gov (United States)

    ... growing baby (placenta) To test amniotic fluid, an amniocentesis is done. A bone marrow biopsy is needed ... the sample procedure is having blood drawn ( venipuncture ), amniocentesis, or bone marrow biopsy.

  9. Prenatal Tests

    Science.gov (United States)

    ... may recommend you have an invasive test, like amniocentesis , to confirm the results. Chorionic villus sampling (also ... done at 15 to 22 weeks of pregnancy. Amniocentesis (also called amnio). Tests the amniotic fluid from ...

  10. Symptoms, Diagnosis, Treatment & Living with CF | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... aggressive treatment. Prenatal Screening Prenatal genetic sampling by amniocentesis and chorionic villus can show CF in the ... samples tissue from the placenta to determine CF. Amniocentesis removes and tests a small amount of fluid ...

  11. How Is Rh Compatibility Diagnosed?

    Science.gov (United States)

    ... status, your doctor may do a test called amniocentesis. For this test, your doctor inserts a hollow ... whether the baby is Rh-positive. (Rarely, an amniocentesis can expose you to Rh-positive blood). Your ...

  12. Disorders of Lipid Metabolism

    Science.gov (United States)

    ... in the fetus by chorionic villus sampling or amniocentesis. Niemann-Pick Disease Niemann-Pick disease is caused ... in the fetus by chorionic villus sampling or amniocentesis. After birth, the diagnosis can be made by ...

  13. Chorionic villus sampling

    Science.gov (United States)

    ... procedure, its risks, and alternative procedures such as amniocentesis . You will be asked to sign a consent ... CVS can be done sooner in pregnancy than amniocentesis, usually at about 10 to 12 weeks. Chorionic ...

  14. Fetal Ultrasound

    Science.gov (United States)

    ... needle placement during certain prenatal tests, such as amniocentesis or chorionic villus sampling. Determine fetal position before ... home. Accessed Aug. 11, 2015. Ghidini A. Diagnostic amniocentesis. http://www.uptodate.com/home. Accessed Aug. 11, ...

  15. What Is Down Syndrome?

    Science.gov (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  16. Amniotic Fluid Analysis

    Science.gov (United States)

    ... page: Was this page helpful? Also known as: Amniocentesis; Amnio; Culture - amniotic fluid; Culture - amniotic cells; Fetal ... Back to top When is it ordered? While amniocentesis is safe and has been performed for many ...

  17. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    to very skilled operators, but these figures cannot be used for general counselling. Amniocentesis performed prior to 15 weeks had a significantly higher miscarriage rate than CVS and mid-trimester amniocentesis, and also increased the risk of talipes equinovarus. Amniocentesis should therefore...

  18. Nursing on the amniocentesis through abdominal wall leading by type-B ultrasonic%B超引导下经腹壁羊膜腔穿刺术的护理

    Institute of Scientific and Technical Information of China (English)

    张秦芳

    2012-01-01

    目的 探讨B超引导下经腹壁羊膜腔穿刺术的护理方法.方法对本院符合羊膜腔穿刺术指征的328例孕妇行羊膜腔穿刺术,并进行有效的护理,总结护理体会.结果 328例孕妇均穿刺成功,无一例发生流产、宫内感染等并发症,7例确诊胎儿染色体核型异常孕妇均平静接受引产术.结论对羊膜腔穿刺术患者实施积极有效的术前、术中、术后护理,是羊膜腔穿刺术顺利进行的重要保证.

  19. B超引导下脐带及羊膜腔穿刺术392例临床分析%Clinical studying of 392 cases of amniocentesis and cordocentesis by ultrasound guidance

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    目的:探讨B超引导下脐带及羊膜腔穿刺术的临床应用及其安全性.方法:392例中晚期妊娠妇女在B超引导下按需抽取羊水(203例)或脐血(189例)进行遗传学及生物化学检测,对其孕妇及胎儿并发症、检验结果等进行分析.结果:发现胎儿畸形15例,均及时引产.羊膜腔穿刺203例未发生孕妇及胎儿并发症,脐带穿刺189例,一次成功率94.2%,穿刺点出血83例(43.9%),一过性胎心减慢17例(9.0%),自然流产1例(0.5%).结论:正确把握适应症,B超引导下抽取胎儿样本是安全和有效的产前诊断方法.

  20. 超声引导下穿刺硬化治疗肾囊肿的临床疗效观察%Amniocentesis ultrasound guided cirrhosis treatment of renal cysts observed clinical efficacy

    Institute of Scientific and Technical Information of China (English)

    高伟; 王腾春; 许玉静; 罗娜; 李馨蕊; 王燕; 钱晓蕊

    2011-01-01

    目的 探讨超声引导下穿刺硬化治疗肾囊肿的临床疗效.方法 在超声引导下对76例肾囊肿患者行穿刺硬化治疗,B超随访观察疗效.结果 本组囊肿治愈率达90.8%,总显效率达96.1%,穿刺成功率达100%.结论 超声引导穿刺硬化治疗肾囊肿与开放手术相比有明显的优越性,它操作简单、费用低廉、效果显著,患者创伤小、痛苦小,值得在临床上应用和推广.

  1. Nursing of Rivanolum amniocentesis under Transabdominal Sonographicguidance on Termination of Second Trimester Pregnancy%B超下羊膜腔穿刺利凡诺中期妊娠引产术的护理

    Institute of Scientific and Technical Information of China (English)

    王化巨

    2011-01-01

    目的:总结B超引导下羊膜腔穿刺利凡诺腔内注射终止妊娠的常见问题的预防及护理要点.方法:对238例中期妊娠孕妇引产结果及护理经验进行回顾性分析.结果:接受在B超引导下羊膜腔穿刺术均获成功,手术前后严格按规范的护理流程操作,未发生明显并发症,取得满意效果.结论:B超引导下羊膜腔穿刺利凡诺引产具有安全、可靠、效果好等优点,严格按护理流程操作,是预防并发症发生的关键.

  2. 妊娠中期前壁胎盘行羊膜腔穿刺术的安全性探讨%The safety of amniocentesis on anterior placenta in mid trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    梁红; 陈颖; 高岚

    2011-01-01

    目的 探讨妊娠中期胎盘附着子宫前壁行羊膜腔穿刺术的安全性.方法 对2 785例有产前诊断指征的孕19~22+6周孕妇行羊膜腔穿刺术并记录手术中和手术后的并发症.结果 2 785例患者均穿刺成功,成功率为100.00%.前壁胎盘者与非前壁胎盘者比较,平均手术时间、胎心减慢率、流产或胎心丢失率、宫内感染率、羊水细胞培养失败率差异均无统计学意义(P>0.05),但出血发生率、肉眼血性羊水率差异有统计学意义(P<0.05).结论 只要掌握手术技巧,选择合适的穿刺部位,前壁胎盘行羊膜腔穿刺术是安全的.

  3. 7059例孕妇唐氏综合征筛查及羊水产前诊断%7059 cases of serological screening for Down's syndrome and fetal karyotype analysis through amniocentesis

    Institute of Scientific and Technical Information of China (English)

    陆建英; 王天飞; 杨惠珠; 郭茗; 骆敏; 郁凯明; 孙路明; 段涛

    2007-01-01

    目的 探讨唐氏综合征筛查与羊水产前诊断的关系.方法 采用时间分辨免疫荧光分析法,由wallac提供Multicalc产前筛查软件,计算唐氏征风险率.高危孕妇经遗传咨询,知情同意,进一步羊水细胞染色体核型分析,确诊.结果 接受筛查7059例孕妇,469例为高风险,高风险率6.64%.282例高风险孕妇进一步羊水产前诊断,胎儿染色体异常9例,检出率3.1%.羊水核型异常有21-三体,短臂增加,平衡易位,倒位,缺失,性三体.结论 羊水产前诊断为唐氏征筛查提供了有效的诊断,产前诊断是减少出生缺陷的发生,提高人口质量不可缺少的技术手段.

  4. Anxiety and depression of pregnant women and their husbands who performed amniocentesis for antenatal diagnosis%接受羊膜腔穿刺术孕妇及其配偶焦虑抑郁情况调查分析

    Institute of Scientific and Technical Information of China (English)

    陈秀华; 张海娟; 陆虹

    2009-01-01

    目的:了解接受羊膜腔穿刺的孕妇及其配偶的认知及焦虑、抑郁情况.方法:对接受羊膜腔穿刺术的孕妇及其配偶进行问卷调查.调查表包括一般资料、羊膜腔穿刺术认知问卷和医院焦虑抑郁量表.结果:接受羊膜腔穿刺的孕妇及其配偶的认知问卷总得分均较高,但个别条目认知情况略差.焦虑、抑郁情绪发生率较高,孕妇及配偶焦虑、抑郁得分及焦虑抑郁总得分之间存在多个相关.结论:接受羊膜腔穿刺的孕妇及其配偶的焦虑、抑郁情绪发生率较高,应通过健康宣教、心理疏导,改善其焦虑、抑郁状况.

  5. 超声引导下羊水穿刺在胎儿心室强回声灶中的应用价值%Ultrasound-guided amniocentesis of the echogenic intracardiac focus in infant

    Institute of Scientific and Technical Information of China (English)

    耿丹明; 王鸿; 涂学军; 李慧忠

    2009-01-01

    @@ 超声引导下羊水穿刺术是产科常用的操作.随着胎儿心室强回声灶的检出率的增加,为排除其与胎儿染色体异常的关系,对中孕期心室强回声灶胎儿行羊水穿刺染色体检查也日见频繁,但其毕竟是一种侵入性操作,存在一定的风险.

  6. B超引导下脐带及羊膜穿刺术产前诊断294例临床分析%Application of amniocentesis and cordocentesis in prenatal diagnosis. A report of 294 cases

    Institute of Scientific and Technical Information of China (English)

    吴晶晶; 郭艳霞; 马瑞娟

    2001-01-01

    目的:探讨妊娠中期在B超引导下羊膜及脐带穿刺技术在产前诊断中的应用及其手术的安全性.方法:1296例高危孕妇接受遗传优生咨询,294例进行了入侵性操作抽取脐血或羊水进行遗传学及生物化学检测,对其结果,母胎并发症进行分析.结果:阳性标本42份,淘汰病胎37例,羊膜穿刺112例均一次成功,脐带穿刺182例一次成功率98.2%,一针成功率85.3%,全部穿刺未发生严重母胎并发症.结论:正确把握适应症,妊娠中期在B超引导下羊膜穿刺及脐带穿刺是一种安全有效的产前诊断方法.

  7. Investigation and analysis of anxiety status of pregnant women before amniocentesis%羊膜腔穿刺术前孕妇焦虑状况调查分析

    Institute of Scientific and Technical Information of China (English)

    梁珍琼

    2014-01-01

    目的 对羊膜腔穿刺术前孕妇的焦虑状况进行调查分析,探讨羊膜腔穿刺术前对孕妇进行护理干预的内容.方法 采用焦虑自评量表和羊膜腔穿刺术前孕妇调查表相结合,对2011年9月在我院进行羊膜腔穿刺术的247例孕妇进行问卷调查.结果 羊膜腔穿刺术前孕妇焦虑得分[(39.90±7.93)分]高于国内常模总分上限[(29.78±0.46)分],差异有统计学意义(t =20.05,P=0.00);术前孕妇缺乏对手术的认知,孕妇关注的焦点集中在流产、胎儿受伤及穿刺部位或宫内感染.结论 羊膜腔穿刺术前孕妇存在明显焦虑情绪,护士应对穿刺前的孕妇进行个性化的干预措施,以利于羊膜腔穿刺术的顺利进行.

  8. 超声引导下羊水穿刺在胎儿左室强回声灶中的应用价值%Evaluating the value of amniocentesis by ultrasound-guided in fetuses left ventricular echogenic intracardiacfocus

    Institute of Scientific and Technical Information of China (English)

    耿丹明; 王鸿; 涂学军; 李慧忠

    2009-01-01

    目的 评价超声引导下羊水穿刺在对胎儿左室强回声灶中的应用价值.方法 对165例左室强回声灶的胎儿进行羊水穿刺染色体检查,结果 165例均穿刺成功,未发生严重并发症.检出染色体异常1例.结论 对左心室强回声灶合并其他器官微小异常的胎儿行羊水穿刺术染色体检查有一定意义.

  9. Defense Health Care: Access to Civilian Providers under TRICARE Standard and Extra

    Science.gov (United States)

    2011-06-01

    or more intra-amniotic injections ( amniocentesis -injections), including hospital admission and visits, delivery of fetus and secundines 1.160...59851 Induced abortion, by one or more intra-amniotic injections ( amniocentesis -injections), including hospital admission and visits, delivery of fetus...and secundines; with dilation and curettage and/or evacuation 1.042 59852 Induced abortion, by one or more intra-amniotic injections ( amniocentesis

  10. Transabdominal chorion villus biopsi ved abnormt ultralydfund i 2. trimester

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Jensen, P K; Henriques, U

    1990-01-01

    be indicated. Until recently, amniocentesis has been employed for this but the results of the chromosome investigation are not available until two to three weeks after the intervention. The delay between amniocentesis and the result of chromosome investigation imposes a mental strain on the pregnant woman...... oligohydramnios, growth retardation or foetal malformations have been demonstrated by ultrasonic scanning, in cases where referral for antenatal diagnosis is very late and when chromosome investigation after amniocentesis proves unsuccessful and repeated amniocentesis would result in an unacceptably late result....

  11. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... to very skilled operators, but these figures cannot be used for general counselling. Amniocentesis performed prior to 15 weeks had a significantly higher miscarriage rate than CVS and mid-trimester amniocentesis, and also increased the risk of talipes equinovarus. Amniocentesis should therefore...

  12. Economic analysis of chromosome testing in couples with recurrent miscarriage to prevent handicapped offspring.

    NARCIS (Netherlands)

    Leeuwen, M. van; Vansenne, F.; Korevaar, J.C.; Veen, F. van der; Goddijn, M.; Mol, B.W.J.

    2013-01-01

    Study Question: Which strategy is least expensive to prevent the birth of a handicapped child in couples with recurrent miscarriage (RM); parental chromosome analysis followed by amniocentesis in case of carrier status of one of the parents, or amniocentesis in all ongoing pregnancies without the kn

  13. Hemangioma in the newborn: increased incidence after chorionic villus sampling.

    NARCIS (Netherlands)

    Bauland, C.G.; Smit, J.M.; Bartelink, L.R.; Zondervan, H.A.; Spauwen, P.H.M.

    2010-01-01

    OBJECTIVES: This study was designed to compare the effects of transcervical chorionic villus sampling (CVS) and amniocentesis on the prevalence of hemangiomas of infancy. METHODS: This is a cohort study of 250 consecutive assessable transabdominal amniocentesis procedures and 250 consecutive assessa

  14. JPRS Report. Soviet Union, EKO: Economics & Organization of Industrial Production No. 7, July 1987.

    Science.gov (United States)

    2007-11-02

    disclose the genetic incompat- ibility of the couple. The method of amniocentesis could verify the supposition. With the help of this method it is...of pregnancy). For analysis one uses the amniotic fluid and the fetal cells located in it. Amniocentesis is a labor-intensive and costly procedure

  15. 米非司酮配合羊膜腔内注射利凡诺尔终止中期妊娠临床观察%Clinical Observation of Combined Use of Mifepristone and Amniocentesis Injection of Rivanol in Terminating Mid-pregnancy

    Institute of Scientific and Technical Information of China (English)

    唐孟华

    2010-01-01

    目的 观察米非司酮配合羊膜腔内注射利凡诺尔终止中期妊娠的引产效果.方法 将160例孕14~27周自愿终止妊娠的妇女分为二组,其中观察组80例(米非司酮配合羊膜腔内注射利凡诺尔组),对照组80例(单纯羊膜腔内注射利凡诺尔组).结果 观察组引产效果明显优于对照组.结论 米非司酮配合羊膜腔内注射利凡诺尔终止中期妊娠是目前一种有效引产方法.

  16. 超声筛查及超声引导下羊水穿刺诊断胎儿染色体异常的价值%Diagnostic value of Ultrasound-guided Amniocentesis and Ultrasound Screening for Fetal Chromosomal Abnormalities

    Institute of Scientific and Technical Information of China (English)

    王绍文

    2015-01-01

    目的 评价超声筛查及超声引导下羊水穿刺诊断胎儿染色体异常的价值.方法 144例有产前诊断指征的孕妇在超声引导下抽取羊水检查染色体核型.结果 144例羊水细胞培养成功虑100%,检出异常染色体9例,检出率6.3%,其中超声筛查异常检出率染色体异常检出率明显高于唐氏筛查组.唐氏筛查结果异常,超声筛查异常(NT)及高龄产妇等是有效的羊水穿刺指征.结论 早孕超声筛查对及时发现胎儿染色体异常有重要的临床意义,并在超声引导下羊水穿刺进行诊断.

  17. 利凡诺羊膜腔内注射配合口服米非司酮终止妊娠50例临床观察%Inductive Efficiency of Mifepristoned Amniocentesis Injection of Rivanol in Mid-pregnancy in 50 Cases

    Institute of Scientific and Technical Information of China (English)

    范红霞; 林琼霞

    2007-01-01

    目的:观察利凡诺羊膜腔内注射配合口服米非司酮终止妊娠的效果.方法:选择孕14~28周自愿终止妊娠,并行利凡诺引产的健康妇女50例.随机分在两组,观察组采用利凡诺羊膜腔内注射配合口服米非司酮终止妊娠,对照组采用单纯利凡诺羊膜腔内注射终止妊娠.结果:利凡诺羊膜腔内注射配合口服米非司酮终止妊娠成功率明显高于单纯利凡诺羊膜腔内注射给药.结论:利凡诺羊膜腔内注射配合口服米非司酮终止妊娠是一种简单、安全、有效、快速的终止妊娠的方法.

  18. 关于特尔非法在确定羊膜腔穿刺健康教育核心信息中的应用%The application of Delphi method in the core information of healthy education about amniocentesis

    Institute of Scientific and Technical Information of China (English)

    张燕燕; 代莉; 王学东; 贾瑾; 张晶莹; 熊薇; 朱军; 周容

    2012-01-01

    目的 确定羊膜腔穿刺有关核心信息,使内容更加规范、完整,同时也使公众对羊膜腔穿刺有正确的认识.方法 运用特尔菲法调查表进行两轮专家咨询.结果 两轮调查表回收率均为100%.调查表内所有核心信息基本都得到了专家的重视及肯定,最终针对医务人员及普通大众分别确定了18项及9项核心信息.结论 专家的高权威性及代表性使其所确定的核心信息可作为羊膜腔穿刺的核心信息在医务人员及普通大众中普及.

  19. Analysis of Karyotyping of Chromosome by Ultrasound-guided Amniocentesis in Fetuses with Intracardiac Echogenic Focus%超声引导下羊水穿刺检测心室强回声灶胎儿染色体核型

    Institute of Scientific and Technical Information of China (English)

    耿丹明; 王鸿; 涂学军; 李慧忠

    2009-01-01

    目的: 探讨超声引导下羊水穿刺对分析胎儿心室强回声灶染色体核型的价值.材料和方法: 对204例心室强回声灶的胎儿进行羊水穿刺染色体检查.结果: 204例均穿刺成功,未发生严重并发症.检出染色体异常2例.结论: 对心室强回声灶合并其他器官微小异常的胎儿行羊水穿刺术染色体检查有一定的意义.

  20. Birth Defects Diagnosis

    Science.gov (United States)

    ... quad screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. Generally, ... of the proteins for which an amniocentesis tests. AFP AFP stands for alpha-fetoprotein, a protein the ...

  1. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    NARCIS (Netherlands)

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

    2004-01-01

    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  2. Rh isoimmunization complicating a triplet gestation. A case report.

    Science.gov (United States)

    Gast, M J; Rigg, L A; Martin, C M

    1991-04-01

    A case occurred of Rh isoimmunization complicating a triplet gestation. Management of that extremely rare situation required careful attention to the problems inherent in both multiple pregnancy and isoimmunization. Amniocentesis and frequent antepartum fetal monitoring were the cornerstones of therapy.

  3. Anxiety in women with low maternal serum alpha-fetoprotein screening results.

    Science.gov (United States)

    Abuelo, D N; Hopmann, M R; Barsel-Bowers, G; Goldstein, A

    1991-06-01

    The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocentesis because of advanced maternal age. The results indicate a higher level of anxiety in women with low alpha-fetoprotein (AFP) levels.

  4. The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.

    Science.gov (United States)

    Wu, Dong; Hou, Qiaofang; Li, Tao; Chu, Yan; Guo, Qiannan; Kang, Bing; Liao, Shixiu

    2012-11-01

    Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.

  5. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  6. DIAGNÓSTICO PRENATAL INVASIVO AL FINAL DEL PRIMER TRIMESTRE: RESULTADOS DE UN ENSAYO INTERNACIONAL RANDOMIZADO (1) Philip J, Silver RK, Wilson RD, Thom EA, Zachary JM, Mohide P, Mahoney MJ, Simpson J L, Platt LD, Pergament E, Hershey D, Filkins K, Johnson A, Shulman LP, Bang J, MacGregor S, Smith JR, Shaw D, Wapner RJ, Jackson LG. For the NICHD EATA Trial Group. Obstet Gynecol 2004; 103(6): 1164-73.

    OpenAIRE

    González R,Christian; Vera,Claudio; Carvajal C,Jorge

    2004-01-01

    Objetivo: Determinar, en un ensayo aleatorizado, la seguridad y la exactitud de la amniocentesis y de la biopsia de vellosidades coriales (BVC) realizada entre las 11-14 semanas de gestación, dado que en este periodo es cada vez más relevante a la investigación temprana de las trisomias. Método: Se comparó amniocentesis con BVC a partir de los 77 a 104 días de gestación en un ensayo aleatorizado en una población materna predominantemente de edad avanzada. Antes de la randomización, la factibi...

  7. Invasive prenatal diagnostic practice in Denmark 1996 to 2006

    DEFF Research Database (Denmark)

    Vestergaard, Christina H F; Lidegaard, Øjvind; Tabor, Ann

    2009-01-01

    The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic...... to 52%. The mean gestational age at which the procedures were done increased--for CVS from week 11 to 13, and for amniocentesis from week 16 to 17. We thus achieved to more than double the offer of prenatal screening and at the same time reduce the number of invasive procedures by 55%....

  8. Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

    Directory of Open Access Journals (Sweden)

    Pietro Cignini

    2011-09-01

    Full Text Available A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16] and array comparative genomic hybridization (a-CGH demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.

  9. Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study

    Institute of Scientific and Technical Information of China (English)

    QI Qing-wei; JIANG Yu-lin; ZHOU Xi-ya; LIU Jun-tao; YIN Jie; BIAN Xu-ming

    2013-01-01

    Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age.Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age (AMA).The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome (DS) and compare the trends of choice of screening and amniocentesis among AMAwomen.Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010.The gestational weeks were from 15 weeks to 20+6 weeks.The patients referred were grouped into a screening group (2107 cases) and an amniocentesis group (3297 cases) by their own decision.The prevalence of DS was compared between the two groups by chi-square test.Choice rates for each maternal age with trends were compared by regression analysis.Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54‰ (18/2107).Twentyfive cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7.58‰ (25/3297).No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group (P=0.928).The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group (1/131.88 vs.1/23.78).With the increase of the maternal age,the choice of amniocentesis increased while the choice of the screening showed an opposite trend.The choice of the AMA women between the screening and amniocantesis was significantly age relevant (P=0.012).Conclusions The second trimester serum screening in combination with maternal age was more effective than maternal age alone to screen for DS.We suggest educating the patients by recommending AMA women be informed of both screening and amniocentesis options.

  10. Noninvasive prenatal detection of genetic defects

    NARCIS (Netherlands)

    Oever, Jessica Maria Elisabeth van den

    2016-01-01

    Current prenatal diagnostics is mainly based on obtaining fetal DNA through invasive procedures such as chorionic villi sampling (CVS) or amniocentesis. These procedures are associated with a small, but significant risk of fetal loss. The discovery of the presence of cell-free fetal DNA (cffDNA) in

  11. LD in AD 2000.

    Science.gov (United States)

    Smith, Bert Kruger

    The author discusses potential problems and benefits for learning disabled (LD) students in the year 2000. Considered are developments in three areas: human engineering (such as the role of amniocentesis in prevention of disabilities), education (including new audiovisual technology and a restructuring of secondary education), and human…

  12. What If I Don't Want to Play God?

    Science.gov (United States)

    Dobrin, Kelly Hykes; Yarnall, Gary Dean

    The authors review technological advances in medicine, such as gene manipulation, amniocentesis, ultra sound, organ transplants, and cloning, and point out ethical and moral dilemmas resulting from such capabilities. Implications of overpopulation are briefly considered. The authors contend that the decision "to play God" has already been made,…

  13. Prognosis for couples who have experienced repeated pregnancy loss.

    Science.gov (United States)

    Abuelo, D N; Barsel-Bowers, G

    1983-12-01

    To determine whether amniocentesis should be recommended to couples who have had multiple spontaneous abortions, we obtained information on the subsequent pregnancy outcome for 70 couples who had had two or more pregnancy losses. Fifty-two (74%) had one or more successful pregnancies, resulting in 64 newborns, all but 1 of whom were normal; the abnormal infant had a normal chromosome analysis.

  14. [PREGNANCY AND DELIVERY IN A PATIENT WITH CHARCOT-MARIE-TOOTH DISEASE].

    Science.gov (United States)

    Pehlivanov, B; Matev, M

    2016-01-01

    We report a case of a 34 years old primigravida with Charcot-Marie-Tooth disease (CMTD). The course of pregnancy was uneventful with no deterioration of symptoms due to the disease. Performed amniocentesis showed healthy fetus. Planned cesarean section with spinal anesthesia was performed because of the restricted pelvis. The possible issues of combination pregnancy and CMTD are discussed.

  15. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  16. How Children Grow.

    Science.gov (United States)

    National Institutes of Health (DHEW), Bethesda, MD.

    The discussion of genetic and environmental factors in the growth of children from infancy to adolescence focuses on intrauterine life, the effects of nutrition, hormones, illness, and emotion in the childhood years, and obesity and puberty in adolescents. Described are processes, such as amniocentesis, for monitoring the physiology chemistry of…

  17. Clinical management and diagnostic possibilities in hydatidiform mole with coexistent fetus

    DEFF Research Database (Denmark)

    Vejerslev, L O

    1991-01-01

    , as well as in 9.1 per cent of those intended to continue. Due to advances in prenatal diagnosis, clinicians will be confronted with counseling in pregnancies with mole and fetus more often than expected from the literature. Chorionic villus biopsy or amniocentesis can disclose those triploid gestations...

  18. Non-invasive prenatal molecular detection of a fetal point mutation for congenital adrenal hyperplasia using co-amplification at lower denaturation temperature PCR

    Institute of Scientific and Technical Information of China (English)

    DU Juan; ZOU Xin; PAN Yi; LI Shuang-fei; LU Guang-xiu

    2010-01-01

    @@ Conventional prenatal diagnosis relies on invasive chorionic biopsy or amniocentesis, which increases the risk of miscarriage, and is undertaken at 11-20 weeks gestation.1 The discovery of cell-free fetal DNA in maternal plasma has, however, offered a new strategy for non-invasive prenatal diagnosis.2

  19. Hydatidiform mole and fetus with normal karyotype: support of a separate entity

    DEFF Research Database (Denmark)

    Vejerslev, L O; Sunde, L; Hansen, B F

    1991-01-01

    Repetitive hydatidiform mole was observed in four pregnancies. The pregnancies presented with heavy bleeding and vomiting, but the post-evacuation courses were uncomplicated, with rapid regression of serum hCG levels. Cytogenetic investigations, analyses of restriction fragment length polymorphis...... within hydatidiform mole. Following chorionic villus sampling or amniocentesis, continued pregnancy may be considered, depending on prenatal diagnosis including genetic marker analysis....

  20. Should the indications for prenatal chromosome analysis be changed?

    DEFF Research Database (Denmark)

    Philip, J; Bang, J; Madsen, Mette

    1977-01-01

    Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those...

  1. Praenatal diagnostik af døvhed blandt foraeldre til cochlear-implanterede børn

    DEFF Research Database (Denmark)

    Thorsen, Anne; Devantier, Louise; Ovesen, Therese

    2009-01-01

    as prenatal diagnostics (PND) by means of placenta biopsy or amniocentesis or as a supplement to the existing audiologic screening. The purpose of this study was to shed light on the attitude towards PND among the parents of 22 children who received a cochlear implant in the cochlear implant centre of Western...

  2. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    of the possibility of a false negative result. The risk of miscarriage in relation to amniocentesis (AC) is unknown to 11-53%. Uptake rates are associated with attitudes towards prenatal examinations, but not knowledge of the test offered. A total of 88 % concidered their health care provider an important source...

  3. The risk of fetal loss associated with invasive testing following combined first trimester risk screening for Down syndrome - a national cohort of 147 987 singleton pregnancies

    DEFF Research Database (Denmark)

    Wulff, Camilla Bernt; Gerds, Thomas Alexander; Rode, Line

    2016-01-01

    OBJECTIVE: To assess prospectively the risk of fetal loss associated with chorionic villus sampling (CVS) and amniocentesis (AC) following combined first-trimester screening (cFTS) for Down syndrome. METHODS: This was a nationwide population-based study (Danish Fetal Medicine Database, 2008...

  4. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    1994-01-01

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis con

  5. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

    DEFF Research Database (Denmark)

    Xu, Yan; Li, Xuchao; Ge, Hui-Juan

    2015-01-01

    single-nucleotide polymorphism (SNP) genotypes to the direct sequencing results of fetal genomic DNA. Prenatal diagnosis was confirmed with amniocentesis, and those results were interpreted in a blinded fashion.Results:The results showed an average accuracy of 99.98% for the total inferred maternal SNPs...

  6. WOMENS OPINIONS ON THE OFFER AND USE OF PRENATAL-DIAGNOSIS

    NARCIS (Netherlands)

    TYMSTRA, T; BAJEMA, C; BEEKHUIS, [No Value; MANTINGH, A

    1991-01-01

    We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the d

  7. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

    DEFF Research Database (Denmark)

    Bugge, Merete; deLozier-Blanchet, Celia; Bak, Mads;

    2005-01-01

    liveborn children with clinical features characteristic of Patau's syndrome and three fetuses diagnosed prenatally by amniocentesis or CVS. Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal...

  8. 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling.

    Science.gov (United States)

    Lazebnik, N; Filkins, K A; Jackson, C L; Linn, K B; Doshi, N N; Hogge, W A

    1996-11-01

    The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high-resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow-up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High-resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work-up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period.

  9. Serial fetal blood sampling for the management of pregnancies complicated by severe rhesus (D) isoimmunization.

    Science.gov (United States)

    MacKenzie, I Z; Bowell, P J; Castle, B M; Selinger, M; Ferguson, J F

    1988-08-01

    Fifty-one pregnancies complicated by rhesus (D) isoimmunization have been managed by serial fetal blood sampling between 17 and 36 weeks gestation as an alternative to amniocentesis for delta OD453 measurements. In 36 pregnancies where the fetus was shown to be rhesus (D) positive and both measurements were made before any intrauterine fetal transfusions, the delta OD453 value gave misleading predictions on 13 of 63 occasions (21%). Fetal haematocrit estimations provided a direct assessment of the haemopoietic compensation occurring, but fetal bilirubin and albumin concentrations did not correlate directly with disease severity. It is proposed that pregnancies complicated by severe isoimmunization can be more precisely managed by serial fetal blood sampling for haematocrit estimation than amniocentesis for delta OD453 measurement thus avoiding unnecessary intervention or delayed treatment.

  10. Outcome of prenatally diagnosed trisomy 6 mosaicism.

    Science.gov (United States)

    Wallerstein, Robert; Oh, Tracey; Durcan, Judy; Abdelhak, Yaakov; Clachko, Mark; Aviv, Hana

    2002-08-01

    We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus.

  11. Successful delivery of fetus with fetal inherited thrombophilia after two fetal deaths.

    Science.gov (United States)

    Juras, Josip; Ivanisević, Marina; Oresković, Slavko; Mihaljević, Slobodan; Vujić, Goran; Delmis, Josip

    2013-12-01

    A pregnant woman with inherited thrombophilia (factor II mutation--20210A) had two late pregnancy losses. The first pregnancy was not well documented, but the second pregnancy was complicated by fetal thrombophilia and umbilical artery thrombosis, proven after fetal death. During the third pregnancy enoxaparine was introduced in the therapy and early amniocentesis was performed. Fetal thrombophilia was proven again. Early delivery was induced and performed with no complications, resulting in a live healthy infant. A history of miscarriages or recurrent fetal loss should raise suspicion of thrombophilia as a potential cause. It is debatable whether amniocentesis in pursuit of fetal thrombophilia should be performed and whether this will lead to a better perinatal outcome. When fetal thrombophilia is diagnosed, an earlier induction of delivery should be considered, taking into account the fetal extrauterine viability. The aforementioned approach of early delivery in cases of inherited fetal thrombophilia could be a possible solution for better perinatal outcomes.

  12. Analysis on the results of prenatal diagnosis of 3 790 pregnant women from 2003 to 2010%2003~2010年3790例孕妇产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    肖建平; 吴金保; 许飞; 赵丽

    2011-01-01

    Objective; To explore the clinical significance of amniocentesis for prenatal diagnosis of pregnant women with different indications during the second trimester of pregnancy. Methods: The clinical data of 3 790 pregnant women who had received amniocentesis in the hospital from 2003 to 2010 were analyzed retrospectively. Results; Amniocentesis was successfully performed on all cases, the success rate of amniotic fluid cells culture was 99. 23% (3 761/3 790) . Among the pregnant women receiving amniocentesis, the proportion of pregnant women with high risk of Downs syndrome screening accounted for 73. 64% (2 791/3 790) . The detection rate of abnormal chro-mosomal karyotype was 4. 85% (184/3 790) , when one of the couple was found with abnormal chromosome, the detection rate of abnormal chromosome among their offsprings was the highest, up to 22. 58% (7/31); among the elderly pregnant women receiving amniocentesis, the positive rate was 5. 99% (27/451) ; among the pregnant women during the second trimester of pregnancy with high risk of serologjcal screen-ing of trisomy 21 and trisomy 18, the positive diagnostic rate of amniocentesis was 4. 37% (122/2 791) and 9. 09% (8/88), respectively; 55.43% of the pregnant women ( 102/184 ) terminated pregnancy because they were found with abnormal results of amniocentesis. Conclusion; Amniocentesis during the second trimester of pregnancy is a safe and effective invasive method for prenatal diag-nosis , collecting detailed medical history data of pregnant women, confirming the indications of prenatal diagnosis combined with ultrasonog-raphy may increase the detection rate of abnormal chromosomal karyotype.%目的:探讨妊娠中期不同指征孕妇行羊膜腔穿刺的临床意义.方法:对2003年~ 2010年间在无锡市妇幼保健院产前接受羊膜腔穿刺术的3 790例孕妇的资料进行回顾性分析.结果:3790例孕妇均一次穿刺成功,羊水培养成功率99.23%(3 761/3 790);唐氏综合征筛查高

  13. [A case of Edwards' syndrome in pregnancy complicated by serologic incompatibility and preeclampsia].

    Science.gov (United States)

    Murawski, Marek; Gryboś, Marian; Zalewska, Dominika; Symonowicz, Krzysztof

    2006-12-01

    A case of Edwards' syndrome (trisomy 18) diagnosed in the third pregnancy trimester is described. The diagnosis was based on sonographic examination and cytogenetic amniocentesis. Lethal genetic fetal malformation determined the medical indication to preterm delivery. Additionally, serologic incompatibility during pregnancy was observed, as well as pregnancy induced hypertension turning into preeclampsia after the labour action was evoked. A caesarean section due to obstetric indications was done. Phenotype and lethal congenital malformations in the newborn have confirmed of the chromosome aberration prenatally diagnosed.

  14. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

    OpenAIRE

    Giuseppina Rapacchia; Cristina Lapucci; Maria Carla Pittalis; Aly Youssef; Antonio Farina

    2015-01-01

    Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent ...

  15. A Case of Ullrich-Turner Syndrome with 45,X/46,XY Karyotype

    OpenAIRE

    Yüce, Hüseyin; AKIN, Haluk; ETEM, Ebru; DEVECİ, Şükriye DERYA

    2004-01-01

    The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X/46,XY by cytogen...

  16. Improving the robustness and performance of quantusFLM® against different delineations

    OpenAIRE

    2016-01-01

    Neonatal respiratory morbidity (NRM) is the leading cause of mortality and morbidity associated with prematurity. Today, NRM is mainly assessed with amniocentesis, an invasive and risky procedure that cannot be performed in all clinical settings. A non-invasive, fast and ready-to-use solution is quantusFLM® that predicts NRM by analyzing fetal lung texture from an ultrasound image. However, some limitations still present since the result offered by quantusFLM® is dichotomic and in consequence...

  17. Fetal blood flow measurements in severe rhesus isoimmunization. A case report.

    Science.gov (United States)

    Stiller, R J; Ashmead, G G; Paul, D; Weiner, S

    1987-06-01

    Maternal isoimmunization can result in fetal anemia. Current management of isoimmunized pregnancies involves amniocentesis and spectrophotometry. Pulsed Doppler ultrasound can provide fetal blood flow determinations from the fetal umbilical vein. A pregnancy complicated by severe rhesus isoimmunization was studied with Doppler ultrasound. Increased fetal umbilical blood flow was associated with increased fetal hemolysis. Umbilical vein blood flow decreased after intrauterine transfusion. Doppler ultrasound assessment of fetal blood flow is a useful noninvasive adjunct in isoimmunized pregnancies.

  18. Reference Intervals for N-Terminal Pro-B-Type Natriuretic Peptide in Amniotic Fluid between 10 and 34 Weeks of Gestation

    OpenAIRE

    Merz, Waltraut M.; Christina Leufgen; Rolf Fimmers; Birgit Stoffel-Wagner; Ulrich Gembruch

    2014-01-01

    BACKGROUND: In adult and pediatric cardiology, n-terminal pro-B-type natriuretic peptide (nt-proBNP) serves as biomarker in the diagnosis and management of cardiovascular dysfunction. Elevated levels of circulating nt-proBNP are present in fetal conditions associated with myocardial pressure or volume load. Compared to fetal blood sampling, amniocentesis is technically easier and can be performed from early pregnancy onwards. We aimed to investigate amniotic fluid (AF) nt-proBNP concentration...

  19. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  20. Hereditary persistence of alpha-fetoprotein: a rare cause for unexplained alpha-fetoprotein elevations in pregnancy.

    Science.gov (United States)

    Rood, Kara; Stiller, Robert

    2013-01-01

    Markedly elevated maternal serum alpha-fetoprotein (MSAFP) levels were found in a 26 year old healthy, nulliparous Polish woman during pregnancy. No fetal abnormalities were identified on targeted ultrasound and amniocentesis revealed normal amniotic fluid alpha-fetoprotein (AFP) values. Maternal ultrasound screening for liver and ovarian germ cell malignancies were also negative. The mother delivered a live, healthy female at term and a repeat maternal serum AFP postpartum remained markedly elevated, suggestive of hereditary persistence of alpha-fetoprotein.

  1. Prenatal diagnosis of common single gene disorders by DNA technology

    OpenAIRE

    1997-01-01

    Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis ca...

  2. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  3. The vanishing twin: morphologic and cytogenetic evaluation of an ultrasonographic phenomenon

    DEFF Research Database (Denmark)

    Rudnicki, M; Vejerslev, L O; Junge, Jette

    1991-01-01

    Twin pregnancy was observed by ultrasonographic examination in the 6th week of gestation. After singleton term delivery a thickening of the membranes opposite to the main placenta showed degenerated chorionic villi embedded between one layer of amnion and chorion; no fetal parts were observed. Vi....... Postconceptional nondisjunction leading to tetraploidy in one twin conceptus may explain demise in early pregnancy. Tetraploidy observed by chorionic villus biopsy must be confirmed by amniocentesis before interruption of the pregnancy is considered....

  4. Posterior midline cervical fetal cystic hygroma.

    Directory of Open Access Journals (Sweden)

    Oak S

    1992-04-01

    Full Text Available Posterior midline cervical cystic hygromas (PMC are frequently found associated with chromosomal aberrations and usually do not survive. The present report illustrates diagnosis of this condition by sonography in an 18 weeks old fetus and an amniocentesis revealed 45 x0 karyotype and increased concentration of alpha-fetoproteins. Pregnancy was terminated in view of Turner′s syndrome. The etiology and natural history of the condition is reviewed.

  5. Analysis of Fetal Blood: Is There Still a Role for Prenatal Diagnosis of Thalassemia?

    Science.gov (United States)

    Yang, Yu; He, Ping; Li, Dong-Zhi

    2016-01-01

    The aim of the present study was to report the use of analysis of fetal blood in prenatal diagnosis (PND) of β- and α-thalassemia (β- and α-thal), at a Chinese tertiary, maternity center. All cases undergoing invasive testing for PND of thalassemias from 1 January 2010 to 31 December 2014 were included. The main clinical characteristics of these invasive procedures were retrieved from the database software used for analysis. One thousand, nine hundred and six invasive PNDs were carried out for thalassemia, including 904 cases for β-thal and 1002 for α-thal. In the 904 PNDs for β-thal, chorionic villus sampling (CVS) was done in 321 cases and amniocentesis in 583 cases. No fetal blood analysis was used for cases at-risk for β-thal. In the 1002 PNDs for α-thal, CVS was done in 724 cases, amniocentesis in 137 cases and fetal blood analysis in 141 cases. All the 278 cases sampled by amniocentesis or fetal blood analysis were found to be affected by Hb Bart's (γ4) disease. Currently, fetal blood analysis is considered only in relatively late gestation when Hb Bart's disease has already been identified by ultrasound in a fetus at-risk for α-thal.

  6. Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

    Science.gov (United States)

    Nishiyama, Miyuki; Yan, Jim; Yotsumoto, Junko; Sawai, Hideaki; Sekizawa, Akihiko; Kamei, Yoshimasa; Sago, Haruhiko

    2015-03-01

    To investigate the frequency and type of abnormal karyotype in Japan by amniocentesis before 22 weeks of gestation. We performed a retrospective analysis of 28 983 amniotic fluid specimens in a local population collected before 22 weeks gestations for fetal karyotyping. The incidence of abnormal karyotype was 6.0%. The main indication was advanced maternal age (AMA) of 35 years and older, which represented over half of the clinical indications. Abnormal karyotype was most frequently reported among the referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screen results (5.3%). Three-fourths of abnormal karyotype was either autosomal aneuploidy (64.0%) or sex chromosome aneuploidy (11.6%). Abnormal karyotype was detected in 2.8% of pregnant women referred for AMA. Clinically significant abnormal karyotype increased with advancing maternal age. The frequency and type of abnormal karyotype detected by amniocentesis for various indications were determined. Amniocentesis was mainly performed among the referrals for AMA, which is a characteristic distribution of indications of Japan.

  7. A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

    Directory of Open Access Journals (Sweden)

    Robert Wallerstein

    2014-01-01

    Full Text Available Objective. Cell-free DNA (cfDNA offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1 cfDNA; (2 integrated screening; (3 direct-to-invasive testing (chorionic villus sampling or amniocentesis; or (4 no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis. Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69% over integrated screening (0.6%, direct-to-invasive testing (14.1%, or no screening (16.6%. Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P<0.05. Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

  8. Descriptive epidemiology of idiopathic clubfoot.

    Science.gov (United States)

    Werler, Martha M; Yazdy, Mahsa M; Mitchell, Allen A; Meyer, Robert E; Druschel, Charlotte M; Anderka, Marlene; Kasser, James R; Mahan, Susan T

    2013-07-01

    Clubfoot is a common structural malformation, occurring in approximately 1/1,000 live births. Previous studies of sociodemographic and pregnancy-related risk factors have been inconsistent, with the exception of the strong male preponderance and association with primiparity. Hypotheses for clubfoot pathogenesis include fetal constraint, Mendelian-inheritance, and vascular disruption, but its etiology remains elusive. We conducted a population-based case-control study of clubfoot in North Carolina, Massachusetts, and New York from 2007 to 2011. Mothers of 677 clubfoot cases and 2,037 non-malformed controls were interviewed within 1 year of delivery about socio-demographic and reproductive factors. Cases and controls were compared for child's sex, maternal age, education, cohabitation status, race/ethnicity, state, gravidity, parity, body mass index (BMI), and these pregnancy-related conditions: oligohydramnios, breech delivery, bicornuate uterus, plural birth, early amniocentesis (<16 weeks), chorionic villous sampling (CVS), and plural gestation with fetal loss. Odds ratios (ORs) and 95% confidence intervals (CIs) were adjusted for state. Cases were more likely to be male (OR: 2.7; 2.2-3.3) and born to primiparous mothers (1.4; 1.2-1.7) and mothers with BMI ≥30 kg/m(2) (1.4; 1.1-1.8). These associations were greatest in isolated and bilateral cases. ORs for the pregnancy-related conditions ranged from 1.3 (breech delivery) to 5.6 (early amniocentesis). Positive associations with high BMI were confined to cases with a marker of fetal constraint (oligohydramnios, breech delivery, bicornuate uterus, plural birth), inheritance (family history in 1st degree relative), or vascular disruption (early amniocentesis, CVS, plural gestation with fetal loss). Pathogenetic factors associated with obesity may be in the causal pathway for clubfoot.

  9. Clinical significance of histologic chorioamnionitis with a negative amniotic fluid culture in patients with preterm labor and premature membrane rupture

    Science.gov (United States)

    Park, Jeong Woo; Park, Kyo Hoon; Jung, Eun Young

    2017-01-01

    Objective To evaluate the effect of histological chorioamnionitis (HCA) with a negative amniotic fluid (AF) culture on adverse pregnancy and neonatal outcomes and inflammatory status in the AF compartment in women with preterm labor or preterm premature rupture of membranes (PPROM). Methods This is a retrospective cohort study of 153 women diagnosed as having a preterm labor or PPROM (20–34 weeks) who delivered singleton gestations within 48 hours of amniocentesis. AF obtained through amniocentesis was cultured, and interleukin (IL)-6, IL-8, and metalloproteinase-9 (MMP-9) levels were determined. The placentas were examined histologically. Results The prevalence of HCA with negative AF culture was 23.5% (36/153). The women with HCA but with a negative AF culture (group 2) and those with a positive AF culture (group 3) had a significantly lower mean gestational age at amniocentesis and delivery than those with a negative AF culture and without HCA (group 1). Women in group 3 had the highest levels of AF IL-6, IL-8, and MMP-9, followed by those in group 2, and those in group 1. Composite neonatal morbidity was significantly higher in groups 2 and 3 than in group 1, but this was no longer significant after adjusting for confounders caused mainly by the impact of gestational age. Discussion In the women who delivered preterm neonates, HCA with a negative AF culture was associated with increased risks of preterm birth, intense intra-amniotic inflammatory response, and prematurity-associated composite neonatal morbidity, and its risks are similar to the risk posed by positive AF culture. PMID:28278303

  10. Proteomic profiling of the amniotic fluid to detect inflammation, infection, and neonatal sepsis.

    Directory of Open Access Journals (Sweden)

    Catalin S Buhimschi

    2007-01-01

    Full Text Available BACKGROUND: Proteomic analysis of amniotic fluid shows the presence of biomarkers characteristic of intrauterine inflammation. We sought to validate prospectively the clinical utility of one such proteomic profile, the Mass Restricted (MR score. METHODS AND FINDINGS: We enrolled 169 consecutive women with singleton pregnancies admitted with preterm labor or preterm premature rupture of membranes. All women had a clinically indicated amniocentesis to rule out intra-amniotic infection. A proteomic fingerprint (MR score was generated from fresh samples of amniotic fluid using surface-enhanced laser desorption ionization (SELDI mass spectrometry. Presence or absence of the biomarkers of the MR score was interpreted in relationship to the amniocentesis-to-delivery interval, placental inflammation, and early-onset neonatal sepsis for all neonates admitted to the Newborn Special Care Unit (n = 104. Women with "severe" amniotic fluid inflammation (MR score of 3 or 4 had shorter amniocentesis-to-delivery intervals than women with "no" (MR score of 0 inflammation or even "minimal" (MR score of 1 or 2 inflammation (median [range] MR 3-4: 0.4 d [0.0-49.6 d] versus MR 1-2: 3.8 d [0.0-151.2 d] versus MR 0: 17.0 d [0.1-94.3 d], p 100 cells/mm3, whereas the combination of Gram stain and MR score was best for rapid prediction of intra-amniotic infection (positive amniotic fluid culture. CONCLUSIONS: High MR scores are associated with preterm delivery, histological chorioamnionitis, and early-onset neonatal sepsis. In this study, proteomic analysis of amniotic fluid was shown to be the most accurate test for diagnosis of intra-amniotic inflammation, whereas addition of the MR score to the Gram stain provides the best combination of tests to rapidly predict infection.

  11. ACOG educational bulletin. Management of isoimmunization in pregnancy. American College of Obstetricians and Gynecologists.

    Science.gov (United States)

    1996-11-01

    Isoimmunization is diagnosed by a positive antibody screen and requires identification of the specific antigen responsible, classification of the antigen into either a clinically significant or a benign group, and titration of the level of antibody response. The paternal antigen status and zygosity should be determined whenever possible. Repetitive amniocentesis or fetal blood sampling may be required to monitor the fetal condition adequately. Early and continued consultation with experts in the management of this condition is key to developing an appropriate therapeutic plan that includes proper management at delivery and optimal neonatal support. New technologies and expertise now allow better outcome for severely affected fetuses.

  12. Molar Pregnancy with a Co-Existing Viable Fetus

    Directory of Open Access Journals (Sweden)

    Ruya Deveer

    2014-03-01

    Full Text Available     The aim of this study was to report the clinical features, management, and outcome of a case of molar pregnancy with a coexisting viable fetus and to review the literature. In this article, we report a case of pregnancy with diffuse placental molar change and a normal fetus which presented with hyperemesis gravidarum and hyperthyroidism. Genetic amniocentesis showed normal fetal karyotype. A healthy full-term live male infant was delivered by cesarean section. In molar pregnancies with a normal karyotype fetus, with intensive maternal follow-up, continuation of pregnancy can be suggested.

  13. Isolation of c-Kit+ human amniotic fluid stem cells from second trimester.

    Science.gov (United States)

    Pozzobon, Michela; Piccoli, Martina; Schiavo, Andrea Alex; Atala, Anthony; De Coppi, Paolo

    2013-01-01

    Amniotic fluid-derived stem (AFS) cells have been described as an appealing source of stem cells because of their (1) fetal, non-embryonic origin, (2) easy access during pregnancy overcoming the ethical issues related both to the use of human embryonic cells and to the postnatal tissue biopsy with donor site morbidity, and (3) their undemanding ability to be expanded. We and others have demonstrated the broad differentiation potential and here we describe the established protocol we developed to obtain c-Kit+ human AFS cells, starting from second trimester amniocentesis samples.

  14. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, K.B. [Morristown Memorial Hospital, NJ (United States); Eisenger, K.; Brown, S. [Columbia Univ., NY (United States)] [and others

    1994-09-01

    We describe the first case of a baby with maternal uniparental disomy for chromosome 2. Growth failure, hypothyroidism and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At 14 months, motor and intellectual development appear to be normal, but growth remains below the 10th percentile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered.

  15. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, K. [Morristown Memorial Hospital, NJ (United States); Eisenger, K.; Brown, S. [Columbia Univ., New York, NY (United States)] [and others

    1995-08-28

    We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered. 26 refs., 4 figs.

  16. [Achievement and prospects of the new laboratory of medical cytogenetics].

    Science.gov (United States)

    Gaĭner, T A; Karimova, O G

    2013-01-01

    Chromosomal abnormalities (CA) represent a significant part in the congenital and hereditary diseases of man. Because of the high need for cytogenetic analysis in January, 2011 a new cytogenetic laboratory was established in ICBFM SB RAS. For 1 year and 8 months more than 450 people was examined (including 21 cases with prenatal diagnosis (PD)), and 34 cases of CA was revealed. The diagnostics allows to choose symptomatic treatment for patients with CA or to prevent the birth of a child with serious CA and to plan a family. Our future plans is to develop of PD (amniocentesis) and to use the methods of molecular cytogenetic.

  17. Utilidad de la alfa-fetoproteína en el diagnóstico prenatal de defectos del tubo neural y anomalías cromosómicas

    OpenAIRE

    Salas-Chaves, Pilar; Rodríguez-Alguilar, Sara; Cunningham-Lucas, Lowella; Castro-Volio, Isabel

    2003-01-01

    Artículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2003 Este es un estudio retrospectivo que señala la utilidad de la determinación de la alfafetoproteína (AFP), en el líquido amniótico de 96 mujeres embarazadas costarricenses captadas en la Unidad de Perinatologf a del Hospital R.A. Calderón Guardia (Ciudad de San Jose, Costa Rica) entre las semanas 15 y 25 de gestación entre los años 1995 y 1996, para realizarse diagnóstico prenatal por amniocentesis...

  18. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

    Directory of Open Access Journals (Sweden)

    Akiko Takashima

    2016-08-01

    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  19. The diagnostic potential of maternal plasma in detecting fetal diseases by DNA test

    Directory of Open Access Journals (Sweden)

    Saha Biswajit

    2004-01-01

    Full Text Available Conventionally, DNA based investigations for fetal diseases are done by chorionic villous sampling and amniocentesis. Both are invasive techniques. Recently, molecular diagnosis has also been made possible in early pregnancy from maternal blood which is noninvasive and advantageous. Most of the researches have tried to identify the Y chromosome marker(s to detect a male fetus and paternally inherited allele. This is currently helpful to detect a very few genetic disorders including Rh D status in Rh negative women in early pregnancy and preeclampsia a few weeks preceding the clinical onset. This is a potential area for prenatal diagnosis in future.

  20. A case of confined placental mosaicism%限制性胎盘嵌合体1例分析

    Institute of Scientific and Technical Information of China (English)

    袁慧珍; 刘艳秋; 包娟

    2014-01-01

    Objective To conduct prenatal diagnosis of positive 21-trisomy syndrome results by DNA noninvasive prenatal testing . Methods Amniocentesis , cordocentesis and fluorescence in situ hybridization ( FISH ) were used to analyze fetal karyotype .High-throughput DNA technique was applied to detect placenta , and the causes of DNA noninvasive prenatal testing of false positive results were analyzed.Results The result of amniocentesis was 46, XN/47, XN, +21(141/5), shown as 21-trisomy mosaicism karyotype.The FISH results and cordocentesis were normal .Placental location and maternal fetal surface were normal karyotype with 21-trisomy mosaicism karyotype , while fetal placenta and umbilical cord tissue surface were normal karyotype , which was known as confined placental mosaicism (CPM).Conclusion There are false positive results in DNA noninvasive prenatal testing .DNA noninvasive positive results have to be determined by amniocentesis and (or) cordocentesis.Amniocentesis suspected mosaicism needs to be diagnosed by cordocentesis .%目的:对无创DNA检查21-三体综合征阳性的胎儿进行产前诊断。方法采用羊膜腔穿刺术及脐血穿刺术,通过细胞培养方法及荧光原位杂交技术( FISH)对胎儿细胞进行染色体核型分析。运用高通量DNA技术对胎盘进行检测,分析无创DNA检查假阳性结果的原因。结果羊水细胞核型分析结果为46,XN/47,XN,+21(141/5),为21-三体嵌合体核型。羊水细胞FISH结果正常。脐血穿刺胎儿染色体正常。胎盘中心位置及母胎面为正常核型和21-三体嵌合体核型,胎盘胎儿面及脐带组织为正常核型,为限制性胎盘嵌合体。结论无创DNA检查存在假阳性结果。无创DNA检查阳性结果必须通过羊膜腔穿刺和(或)脐血穿刺进行确诊。羊水染色体疑似嵌合现象必须通过脐血穿刺进行确诊。

  1. Paediatric Metabolic Conditions of the Liver

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    Elroy P. Weledji

    2015-01-01

    Full Text Available Paediatric metabolic disorders with the most clinical manifestations of deranged hepatic metabolism are discussed. The conditions which will be stressed are those for which effective treatment is available and early diagnosis is essential. Accurate diagnosis of other disorders for which no treatment is, as yet, available is also important as a guide to prognosis and for accurate genetic counselling. With the advancement in amniocentesis techniques there is a growing role for gene therapy. For selected metabolic disorders, paediatric liver transplantations have been successful.

  2. Trisomy 9 Mosaicism Diagnosed In Utero

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    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  3. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

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    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  4. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

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    Lee, Jee Young; Lee, Yeon Hee [Dankook University College of Medicine, Seoul (Korea, Republic of)

    2002-06-15

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  5. Repeated severe neonatal hemolysis due to Rhesus isoimmunization in a pregnant woman.

    Science.gov (United States)

    Chen, Da-Chung; Chang, Yeing-Kuan; Chen, Wei-Hwa; Liu, Jah-Yao

    2002-05-01

    Rhesus (Rh) isoimmunization presenting as severe neonatal hemolytic disease is rare in RhD negative primigravidas of Chinese ethnicity. We report the case of a 32-year-old pregnant Taiwanese woman, RhD negative, who gave birth vaginally to two RhD-positive full-term fetuses 6 years apart. Antenatal follow-up was uneventful and there was no obvious fetal-maternal hemorrhage except at the performance of amniocentesis at the 19th week of the first pregnancy without anti-D immune globulin prophylaxis. Although anti-D immune globulins were administered to the mother within 1 hour after each birth, both of the newborns had severe neonatal hemolysis refractory to phototherapy and were rescued by exchange transfusions. Both of the children were well at age 7-years-old and one-year-old respectively In conclusion, with suspicion of fetal-maternal hemorrhage in RhD-negative pregnancies post amniocentesis, serial monitoring of indirect Coombs titer with appropriate management is mandatory.

  6. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

    Science.gov (United States)

    Petit, F; Holder-Espinasse, M; Duban-Bedu, B; Bouquillon, S; Boute-Benejean, O; Bazin, A; Rouland, V; Manouvrier-Hanu, S; Delobel, B

    2012-03-01

    Prenatal diagnosis of true mosaic trisomy 7 is rare in amniotic fluid and can be misinterpreted as pseudomosaic. The phenotype is highly variable and may be modified by a maternal uniparental disomy of chromosome 7 leading to mild Russell-Silver syndrome (RSS). We report here the third postnatal case of mosaic trisomy 7 with maternal uniparental disomy of chromosome 7 in a boy presenting a mild RSS. Fetal karyotype performed in amniocentesis for intrauterine growth retardation was considered normal. Mosaic trisomy 7 was diagnosed after birth, on fibroblasts karyotype performed for blaschkolinear pigmentary skin anomalies and failure to thrive. Maternal uniparental disomy of chromosome 7 was observed in blood sample. Retrospectively, trisomic 7 cells were identified in one prenatal long-term flask culture revealing a prenatal diagnosis failure. This report emphasizes the difficulty of assessing fetal mosaicism and distinguishing it from pseudomosaicism in cultured amniocytes. It is important to search for uniparental disomy as an indirect clue of trisomy 7 mosaicism and a major prognosis element. Although there are only few prenatal informative cases, detection of trisomy 7 in amniocentesis appears to be associated with a relatively good outcome when maternal uniparental disomy has been ruled out.

  7. The results of cytogenetic analyses in prenatal diagnosis

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    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  8. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

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    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  9. Maternal Serum α-Fetoprotein Screening for the Detection of Neural Tube Defects—Report of a Pilot Program

    Science.gov (United States)

    Crandall, Barbara F.; Robertson, Robert D.; Lebherz, Thomas B.; King, William; Schroth, Phillip C.

    1983-01-01

    We tested 10,715 low-risk pregnancies in a voluntary maternal serum α-fetoprotein screening program for the detection of neural tube defects in California. In all, 5.3 percent of women had one elevated serum level, 3.3 percent were referred for sonography and 1.5 percent for amniocentesis. There were 12 cases of open neural tube defects (1.1 per 1,000); all of the mothers had one elevated serum αfetoprotein level: nine (75 percent) completed the protocol and the neural tube defects were correctly identified. No normal pregnancies were terminated. The risk of an open neural tube defect occurring was about 1 in 50 after the first abnormal serum level and 1 in 15 at amniocentesis. We found significantly increased risk for fetal death and low birth weight after one elevated serum α-fetoprotein level, though the likelihood of a normal pregnancy outcome was about 80 percent. Maternal serum screening was also useful in identifying twin pregnancies and correcting underestimated gestational dates. PMID:6191442

  10. 高龄孕妇胎儿唐氏综合征中孕期产前筛查和产前诊断的卫生经济学分析%Cost-effectiveness analysis of second trimester prenatal screening and diagnosis for fetal Down Syndrome in women of advanced maternal age

    Institute of Scientific and Technical Information of China (English)

    周希亚; 戚庆炜; 蒋宇林; 边旭明; 刘俊涛

    2012-01-01

    Objective: To evaluate the effectiveness of prenatal serum screening and genetic amniocentesis for diagnosis of Down Syndrorpe (DS) in second trimester, and compare the cost-effect of serum screening and amniocentesis among women of advanced maternal age. Methods- A total of 5,404 pregnant women of advanced maternal age and natural singletons pregnancy for 15-20 weeks were recruited for the prospective study from Jan. 2008 to Dec. 2010. The patients were grouped by their decision into the serum screening group (2,107 patients) and the amniocentesis group (3,297 patients). The prevalence of fetal DS was compared between the two groups by chi-square test. The result of cost-effect analysis was compared between the two groups. Results: There was no statistical difference in the prevalence of fetal DS between the serum screening group and amniocentesis group (P = 0. 928) by chi-square test. The detection rate, false positive rate, false negative rate and the positive predictive rate of the screening group were 100%, 19. 63%, 0% and 4. 2% respectively. The cost-effect analysis showed that the scheme offering genetic amniocentesis for the women with positive result of serum screening would result in a significant savings of 44. 9% when compared with universal genetic amniocentesis. Conclusions: The detection efficiency of the scheme offering genetic amniocentesis for the women with serum positive screening result was as same as that of universal genetic amniocentesis, but the former scheme could save more.%目的 对高龄孕妇胎儿唐氏综合征产前筛查和产前诊断策略行前瞻性卫生经济学分析. 方法 选择2008年1月到2010年12月期间在本院就诊的、孕周为15~20周16、自然单胎妊娠的高龄孕妇5404例,对其进行遗传咨询之后由其自行选择行唐氏综合征的母血清学筛查(筛查组)或羊膜腔穿刺术、羊水细胞培养及染色体核型分析(羊穿组).计算各组胎儿唐氏综合征的发生率,并对

  11. Predictive value of mid-trimester amniotic fluid high-sensitive C-reactive protein, ferritin, and lactate dehydrogenase for fetal growth restriction

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    Borna Sedigheh

    2009-10-01

    Full Text Available Background: Fetal growth restriction (FGR is surprisingly common with placental dysfunction occurring in about 3% of pregnancies and despite advances in obstetric care, FGR remains a major problem in developed countries. Aim: The purpose of this study is to find out the predictive value of amniotic fluid high sensitive C-reactive protein (hs-CRP, ferritin, and lactate dehydrogenase (LDH for FGR. Materials and Methods: This prospective strategy of this study has been conducted on pregnant women who underwent genetic amniocentesis between 15th and 20th weeks of gestation. All patients were followed up on until delivery. Patients with abnormal karyotype and iatrogenic preterm delivery for fetal and maternal indications were excluded. The samples were immediately sent to laboratory for cytogenetic and biochemical examination. Non-parametric tests and receiver-operator characteristic curve analysis were used for statistical purpose. Results: A significant correlation between incremental amniotic fluid alpha fetoprotein (αFPr and LDH levels and FGR at gestational weeks 15th-20th was found out. We also found an optimum cut-off value> 140 IU/L for the amniotic fluid LDH concentration with a sensitivity of 87.5% and a specificity of 82.4% for the prediction of FGR. Conclusion: Once the LDH value is confirmed, it could serve as a prediction factor for FGR at the time of genetic amniocentesis at gestational weeks 15-20.

  12. Amniotic Fluid Infection in Preterm Pregnancies with Intact Membranes

    Science.gov (United States)

    Rahkonen, Leena; Nupponen, Irmeli; Pätäri-Sampo, Anu; Tikkanen, Minna; Sorsa, Timo; Juhila, Juuso; Andersson, Sture; Paavonen, Jorma; Stefanovic, Vedran

    2017-01-01

    Introduction. Intra-amniotic infection (IAI) is a major cause of preterm labor and adverse neonatal outcome. We evaluated amniotic fluid (AF) proteolytic cascade forming biomarkers in relation to microbial invasion of the amniotic cavity (MIAC) and IAI in preterm pregnancies with intact membranes. Material and Methods. Amniocentesis was made to 73 women with singleton pregnancies; 27 with suspected IAI; and 46 controls. AF biomarkers were divided into three cascades: Cascade 1: matrix metalloproteinase-8 (MMP-8), MMP-9, myeloperoxidase (MPO), and interleukin-6; Cascade 2: neutrophil elastase (HNE), elafin, and MMP-9; Cascade 3: MMP-2, tissue inhibitor of matrix metalloproteinases-1 (TIMP-1), MMP-8/TIMP-1 molar ratio, and C-reactive protein (CRP). MMP-8 was measured by an immunoenzymometric assay and the others were measured by ELISA. Standard biochemical methods, molecular microbiology, and culture techniques were used. Results. MMP-8, MMP-9, MPO, elafin, and TIMP-1 concentrations were higher in IAI suspected cases compared to controls and also in IAI suspected cases with MIAC compared to those without MIAC when adjusted by gestational age at amniocentesis. All biomarkers except elafin and MMP-2 had the sensitivity of 100% with thresholds based on ROC-curve. Odd ratios of biomarkers for MIAC were 1.2-38 and 95% confidential intervals 1.0-353.6. Conclusions. Neutrophil based AF biomarkers were associated with IAI and MIAC. PMID:28167848

  13. Cariotipos fetales en embarazos de alto riesgo genético provenientes de hospitales de la seguridad social y de la consulta privada, de 1993 a 1998

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    Isabel Castro Volio

    2000-03-01

    Full Text Available El objetivo de este estudio fue identificar cromosomopatía fetal en voluntarias con embarazos de alto riesgo genético, a fin de brindar adecuada atención obstétrica y pediátrica y asesoramiento genético. Las células fetales se obtuvieron mediante amniocentesis (N=506 y cordocentesis (N=46 desde 1993 hasta 1998 inclusive. Ambas punciones fueron transabdominales, guiadas por ultrasonografía y se realizaron en los hospitales Calderón Guardia (63% de las amniocentesis y 45 cordocentesis, México (21% de las amniocentesis y una cordocentesis, en la consulta privada (12% y otros hospitales. La indicación del 62% de las amniocentesis y de casi todas las cordocentesis fue el examen ultrasonográfico anormal y el 23% de las punciones fue por edad materna avanzada. El 66% de las veces el estudio se realizó en la segunda mitad del embarazo. De las 552 muestras de líquido amniótico y sangre fetal, en 109 no fue posible obtener resultados. Los 443 cariotipos fetales obtenidos fueron anormales en 39 casos (9%: 21 cariotipos trisómicos, ocho casos con síndrome de Turner (45,X, tres mosaicos cromosómicos y siete cariotipos anormales por otras causas. El resultado final se obtuvo en 15 días (mediana. En el seguimiento de los casos se encontró concordancia entre el cariotipo y el fenotipo del recién nacido, al igual que entre el diagnóstico ultrasonográfico fetal y la condición del neonato. El diagnóstico prenatal de cromosomopatía permitió el asesoramiento genético y el manejo obstétrico y pediátrico de los casos de manera adecuada. En los embarazos con cariotipo normal, esta información alivió la preocupación de muchos de los padres.The results of 506 genetic amniocentesis and 46 percutaneous umbilical blood samplings, from 1993 to 1998, are reported. There were two main reasons for referral: abnormal ultrasound assessment (62% of cases and advanced maternal age (23%. Most procedures (66% were performed during the second half of

  14. Timing of Histologic Progression from Chorio-Deciduitis to Chorio-Deciduo-Amnionitis in the Setting of Preterm Labor and Preterm Premature Rupture of Membranes with Sterile Amniotic Fluid.

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    Chan-Wook Park

    Full Text Available Histologic chorio-deciduitis and chorio-deciduo-amnionitis (amnionitis in extra-placental membranes are known to represent the early and advanced stages of ascending intra-uterine infection. However, there are no data in humans about the time required for chorio-deciduitis to develop and for chorio-deciduitis without amnionitis to progress to chorio-deciduitis with amnionitis, and the effect of prolongation of pregnancy on the development of chorio-deciduitis and amnionitis in patients with preterm labor and intact membranes (PTL and preterm premature rupture of membranes (preterm-PROM. We examined these issues in this study.The study population consisted of 289 women who delivered preterm (133 cases with PTL, and 156 cases with preterm-PROM and who had sterile amniotic fluid (AF defined as a negative AF culture and the absence of inflammation as evidenced by a matrix metalloproteinase-8 (MMP-8 level <23 ng/ml. We examined the association between amniocentesis-to-delivery interval and inflammatory status in the extra-placental membranes (i.e., inflammation-free extra-placental membranes, choroi-deciduitis only, and chorio-deciduitis with amnionitis in patients with PTL and preterm-PROM.Amniocentesis-to-delivery interval was longer in cases of chorio-deciduitis with amnionitis than in cases of chorio-deciduitis only in both PTL (median [interquartile-range (IQR]; 645.4 [319.5] vs. 113.9 [526.9] hours; P = 0.005 and preterm-PROM (131.3 [135.4] vs. 95.2 [140.5] hours; P<0.05. Amniocentesis-to-delivery interval was an independent predictor of the development of both chorio-deciduitis and amnionitis after correction for confounding variables such as gestational age at delivery in the setting of PTL, but not preterm-PROM.These data confirm for the first time that, in cases of both PTL and preterm-PROM with sterile AF, more time is required to develop chorio-deciduitis with amnionitis than chorio-deciduitis alone in extra-placental membranes. Moreover

  15. 影响孕妇羊水产前诊断依从率的心理因素分析%Analysis the Psychological Factors Affecting of the Compliance Rate in Pregnant Women With Amniotic Liquid Prenatal Diagnosis

    Institute of Scientific and Technical Information of China (English)

    罗颖; 金华; 鲁婷; 李敏

    2015-01-01

    Amniocentesis is an invasive method of obtaining fetal cells for prenatal diagnosis which selectively abort fetus of numerical and structural chromosomal abnormalities during mid-pregnancy. It aim at improving the health of the people and reducing the birth defects. The prenatal diagnosis was performed after preoperative communication. But not all pregnant women of operation indication could accept amniocentesis due to some economic, physiological and psychological factors. This study aimed to analyze the psychological factors to make the amniocentesis more acceptable.The results indicate that the different area of pregnant women, familiarity of prenatal diagnosis, confidence in doctors, professional title of clinical doctors, Down’s screening and the schedule of operation were the factors affecting the compliance rate in pregnant women .%羊水产前诊断是一种对孕妇和胎儿有微创的检查,通过羊膜腔穿刺获取胎儿脱落细胞,进行染色体分析,排除胎儿染色体数目和结构的异常,从而能够在妊娠中期检测出胎儿染色体异常并根据情况选择性终止妊娠,从而提高人口素质,做到出生缺陷的二级预防。通过与在我院拟准备产前诊断的孕妇夫妇术前谈话,在她们知情选择的基础上进行产前诊断。但是由于一些经济、生理及心理因素,不是所有的有产前诊断指征的孕妇都能接受。本文旨分析影响孕妇接受产前诊断的心理因素,使产前诊断工作能更加广泛的推行。通过调查研究,发现进行产前诊断的孕妇来源、对产前诊断的了解程度、对医生的信任、接诊医师水平、是否进行产前筛查、手术时间安排等是影响孕妇羊水产前诊断依从率的因素。

  16. An analysis on karyotype of amniotic fluid cells from 1262 fetus%1262例孕中期羊水细胞染色体检查结果分析

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    李小燕; 卢守莲; 王珏; 黄欢; 孙丽洲

    2013-01-01

    Objective To understand the relationship between the abnormal karyotype and amniocentesis indication for providing a basis for genetic counseling.Methods The amniotic fluid samples were taken from 1262 outpatients with the indications of prenatal diagnosis.After the cells in amniotic fluid were cultured,the karyotyping was performed with G-banding stain and grouped according to different indications.The incidence of abnormal karyotype was analyzed and the parents of fetal structural abnormalities chromosomes were checked to search for the origin of abnormal karyotype.Results A total of 65 patients with abnormal karyotype was detected in 1262 fetuses karyotype with an abnormal rate of 5.3 %,of which aneuploidy rate was 44.6 % (29/65),chromosome structural abnormality rate was 41.5 % (27/65),and marker chromosome rate was 10.8 % (7/65).Conclusion Abnormal karyotype composition is different according to different maternal amniocentesis indications,indicating the importance of mastering the indications for amniocentesis.%目的 了解异常核型与产前诊断指征的关系,为临床遗传咨询提供依据.方法 抽取1262例有产前诊断指征的孕妇孕中期羊水,细胞培养后G显带染色,分析胎儿染色体核型,并根据不同产前诊断指征进行分组.分析不同指征的发病率,并对染色体结构异常胎儿的父母染色体进行检查,以确定结构异常来源.结果 1262例羊水细胞染色体检查者,共检出65例异常核型,异常核型发生率为5.3%.其中,以非整倍体最多见,共检出29例(44.6%);其次为染色体结构异常,共检出27例(41.5%);检出染色体多态性改变7例(10.8%).结论 不同产前诊断指征染色体异常的检出比例有所不同,说明严格把握产前诊断指征的重要性.

  17. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

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    Giuseppina Rapacchia

    2015-01-01

    Full Text Available Panorama Plus (Natera, a single-nucleotide polymorphism- (SNP- based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.

  18. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

    Science.gov (United States)

    Rapacchia, Giuseppina; Lapucci, Cristina; Pittalis, Maria Carla; Youssef, Aly; Farina, Antonio

    2015-01-01

    Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition. PMID:26346617

  19. Expert advice in case of exposure to mutagens or teratogens

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    Steuber, E.D.

    1982-06-21

    To answer the question of any induced hazards in progeny by an exogeneous factor it is necessary to differentiate between mutagenic and teratogenic action. Mutations can be caused by ionizing radiations and chemicals, e.g. cytostatic drugs. After exposure to mutagenic agents a conception should be prevented for a time of 3 months to avoid a fertilization of a germ cell that has been effected during a very sensible phase. In case of conception during mutagenic exposure it is possible to detect chromosome aberrations by prenatal diagnosis after amniocentesis. The spectrum of possible teratogens is extensive and less specific than that of mutagenic agents. Factors established as embryotoxic in man are for instance radiation, several drugs and some virus infections. They have been known to cause malformations in the fetus, if these events take place during a certain critical period of organogenesis.

  20. Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report

    Institute of Scientific and Technical Information of China (English)

    Lifang Lei; Kun Xia; Beisha Tang; Junling Wang; Shen Zhang; Hong Jiang; Lu Shen; Qian Xu; Xinxiang Yan; Yi Yuan; Qian Pan

    2011-01-01

    Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in mainland China in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.

  1. Non-invasive prenatal testing for trisomy 13: more harm than good?

    Science.gov (United States)

    Verweij, E J; de Boer, M A; Oepkes, D

    2014-07-01

    A 35-year-old primigravida, pregnant after in-vitro fertilization, was seen because of a trisomy 13/trisomy 18 (T13/T18) risk of 1:55, based on the result of her first-trimester combined test. She elected for non-invasive prenatal testing (NIPT) at 14 + 5 weeks' gestation, which was positive for T13. After counseling, the patient elected to undergo amniocentesis. Quantitative fluorescence polymerase chain reaction (QF-PCR) showed no signs of trisomy, and full karyotyping confirmed a normal 46,XY result. Analysis of the published literature on NIPT for T13 gives an overall detection rate of 91.6%, with a false-positive rate of 0.097%. Based on this detection rate, hypothetical calculations show that the positive predictive value is highly dependent on the prevalence of the disease, resulting in an unfavorable balance between benefit and harm in a general population.

  2. Prenatal diagnosis of an autosomal translocation with regular trisomy 21.

    Science.gov (United States)

    Tunca, Yusuf; Deveci, M Salih; Koc, Altug; Kaya, Halide; Alanbay, Ibrahim; Coksuer, Hakan; Dede, Murat

    2013-06-01

    The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.

  3. Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY).

    Science.gov (United States)

    van den Berg, C; Van Opstal, D; Brandenburg, H; Los, F J

    2000-07-31

    We report on a prenatally detected case of discordant non-mosaic karyotypes following chorionic villus sampling. A 45,X karyotype was found in cytotrophoblast cells and a 46,XY karyotype in mesenchymal core cells. A subsequent amniocentesis showed a true 45,X/46,XY mosaicism. Confirmatory studies, including fluorescence in situ hybridization (FISH) in various fetal and placental tissues as well as in the original villi preparations changed the presumed condition of generalized mosaicism with culture confined normality to that of generalized mosaicism with absolute concordance. This case underscores the importance of the investigation of both short-term and cultured villi preparations, the implementation of prenatal FISH studies, and the need for thorough follow-up investigation in cases of discrepant results.

  4. Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.

    Science.gov (United States)

    Martin, A O; Simpson, J L; Rosinsky, B J; Elias, S

    1986-06-01

    Cytogenetic analysis was performed on 103 chorionic villus samples. Analysis of the 103 samples revealed six abnormalities. In three of the six the abnormalities were confirmed in fetal or neonatal tissue (47,XY, + 13; 46,XY, t(13q13q); 45,X). In three samples the abnormalities detected were not confirmed; in two of the three the abnormalities were detected only in long-term cultures, whereas in the other samples the abnormality was restricted to direct analysis of the villi after overnight incubation. Our initial experience leads us to conclude that certain abnormalities in chorionic villus sampling may not be indicative of fetal abnormalities; 45,X/46,XX or 45,X/46,XY mosaicism is such a complement. Discrepancies between cytogenetic analysis of intact villi processed soon after sampling and of cells grown in culture can be managed by adhering to several suggested guidelines and by liberal use of confirmatory amniocentesis.

  5. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

    Energy Technology Data Exchange (ETDEWEB)

    Milunsky, J.M.; Wyandt, H.E.; Milunsky, A. [Tufts-New England Medical Center, Boston, MA (United States)] [and others

    1996-01-22

    We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46,XX/47,XX,+15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infant died at 6 weeks of life. Peripheral lymphocyte chromosomes were {open_quotes}normal{close_quotes} 46,XX in 100 cells. Parental lymphocyte chromosomes were normal. Skin biopsy showed 47,XX,+15 in 80% of fibroblasts and results were equivalent in fibroblasts from autopsy lung tissue. Molecular analysis revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. We describe an emerging phenotype of trisomy 15 mosaicism, confirm that more than one tissue should be studied in all cases of suspected mosaicism, and suggest that UPD be considered in all such cases. 19 refs., 2 figs., 1 tab.

  6. Slight instability of a FMR-1 allele over three generations in a family from the general population

    Energy Technology Data Exchange (ETDEWEB)

    Abramowicz, M.J.; Parma, J.; Cochaux, P. [Brussels Univ. Clinic-Erasme Hospital, Brussels (Belgium)

    1996-08-09

    We report on a family segregating a FMR-1 allele within the {open_quotes}grey zone{close_quotes} of triplet repeat length (n = 51). The allele showed a 1-unit increment when transmitted through a female meiosis and a 1-unit increment when transmitted through a male of the next generation. At the following generation, a pregnant woman had amniocentesis performed. The latter showed she transmitted the allele unchanged (n = 53) to her male fetus. This family was not ascertained through an affected subject, and there was no family history of mental retardation. Thus our observation reflects the natural history of an unstable allele in the general population. Systematic analysis of such alleles may help refine our understanding of the grey zone of triplet repeat length. 5 refs., 1 fig.

  7. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  8. An Unusual Origin of Fetal Lymphangioma Filling Right Axilla.

    Science.gov (United States)

    Ersoy, Ali Ozgur; Oztas, Efser; Saridogan, Erdinc; Ozler, Sibel; Danisman, Nuri

    2016-03-01

    Fetal lymphangioma is a hamartomatous congenital anomaly of the lymphatic system, which is embracing the fetal skin (sometimes mucous membranes) and the subcutaneous tissue. The general consensus is that it occurs as a result of failure in lymphatic drainage. A 36-year-old pregnant woman was referred to our perinatology clinic at 22 weeks' gestation, because of a fetal right-sided axillary mass revealed by ultrasonography. The mass measuring 5x7x7cm in three dimensions had a multilocular structure without colour Doppler flow and well-circumscribed borders. Amniocentesis revealed a normal constitutional karyotyping. Lymphangioma was considered as prediagnosis. A healthy female baby weighing 3470 grams was delivered at term. Neonatal examination and the postnatal MRI confirmed the diagnosis. The baby is still on follow-up with the medical treatment of Sirolimus an anti-proliferative drug, and the mass got smaller significantly in 8 months after delivery.

  9. Pathohistological changes in fetuses with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Đolai Matilda

    2012-01-01

    Full Text Available Introduction. Cystic fibrosis or mucoviscidosis is a genetically caused disease. The intensity of disease and histopathological changes grow throughout the life. According to the literature, pathological changes characteristic of cystic fibrosis become noticeable around the sixth month of life. Case Report. After amniocentesis of a 5-lunar month-old fetus had been done, which confirmed cystic fibrosis, the Ethics Commission approved the preterm labor. The autopsy and histopathological analysis demonstrated the existence of typical histopathological changes in the pancreas and intestines. Discussion. In the late fetal period or during the period around the delivery, cystic fibrosis is usually manifested as meconial cap with or without obstruction of the intestinal lumen. Morphological changes in the exocrine glands usually develop only after birth. In this case, the existence of meconial obstruction, as well as the typical acidofil content in the secretory ducts and acini of the pancreas was confirmed, which is unusual for the fetal age of five months.

  10. Fetal Goiter was Resolved with Decreasing Maternal Propylthiouracil Dose

    Directory of Open Access Journals (Sweden)

    And Yavuz

    2016-06-01

    Full Text Available We report a case of fetal goiter diagnosed by detailed ultrasonography. A 33-year-old woman at twenty weeks of gestation was referred to our hospital for detailed ultrasonography. A fetal goiter was identified. She was receiving propylthiouracil (PTU 100 mg daily for Graves’ disease. Amniocentesis was performed and fetal thyroid function was evaluated as normal. Her recent thyroid function tests were normal, but anti-thyroid antibodies were positive. The dose of PTU was reduced to 50 mg. However, at twenty six weeks of gestation, maternal thyroid-related autoantibodies became undetectable. A fetal magnetic resonance imaging demonstrated a slight shrinkage of the fetal goiter at 30 weeks. The fetus was delivered vaginally. Thyroid function tests of the neonate were normal, and neonatal goiter was nonpalpable. Fetal goiter is a rare disease. It can be spontaneously resolved by decreasing the maternal dose of PTU.

  11. Clinically silent polymicrobial amnionitis and intrauterine fetal death associated with a Cu-7 intrauterine contraceptive device.

    Science.gov (United States)

    Waites, K B; Bobo, R A; Davis, R O; Brookings, E S; Cassell, G H

    1984-12-15

    This article presents a case of silent polymicrobial amnionitis with subsequent intrauterine fetal death in a 34-year old woman who conceived with a Cu-7 IUD in place. There were no apparent pregnancy complications or symptoms of uterine infection during early pregnancy. At 16 weeks gestation, the patient underwent amniocentesis for cytogenetic studies. 5 different microorganisms--Corynebacterium, Staphylococcus warneri, Staphylococcus epidermidis, Streptococcus mitis, and Ureaplasma urealyticum--were isolated from the amniotic fluid. 2 week later, intrauterine fetal death was detected. U. urealyticum was at this point isolated from the cervix and placental and fetal tissues. This organism, which has been associated with chorioamnionitis, spontaneous abortion, and neonatal death, is suspected to have contributed to the fetal death in this case. U. urealyticum can invade the amniotic sac with fetal membranes intact and persist for 8 weeks without overt effects. This case illustrates the risks associated with nonremoval of an IUD after contraceptive failure.

  12. Rat full term amniotic fluid harbors highly potent stem cells.

    Science.gov (United States)

    Mun-Fun, Hoo; Ferdaos, Nurfarhana; Hamzah, Siti Nurusaadah; Ridzuan, Noridzzaida; Hisham, Nurul Afiqah; Abdullah, Syahril; Ramasamy, Rajesh; Cheah, Pike See; Thilakavathy, Karrupiah; Yazid, Mohd Nazri; Nordin, Norshariza

    2015-10-01

    Amniotic fluid stem cells (AFSCs) are commonly isolated from mid-term amniotic fluid (AF) of animals and human collected via an invasive technique, amniocentesis. Alternatively, AFSCs could be collected at full-term. However, it is unclear whether AFSCs are present in the AF at full term. Here, we aimed to isolate and characterize stem cells isolated from AF of full term pregnant rats. Three stem cell lines have been established following immuno-selection against the stem cell marker, c-kit. Two of the new lines expressed multiple markers of pluripotency until more than passage 90. Further, they spontaneously differentiated into derivatives of the three primary germ layers through the formation of good quality embryoid bodies (EBs), and can be directly differentiated into neural lineage. Their strong stemness and potent neurogenic properties highlight the presence of highly potent stem cells in AF of full-term pregnancies, which could serve as a potential source of stem cells for regenerative medicine.

  13. A rare prenatal case with two de novo inversions and a translocation: 48, XX,t(9;12)(q32;p24.3), inv(11)(p15.1q25), inv(13)(q12.q22)

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, B.; Balaban, L.; Eldred, C. [Albany Medical College, Albany, NY (United States)] [and others

    1994-09-01

    Ultrasound examination of a para 1, gravida 2, 26 y.o. showed severe hydrocephalus and polyhydramnios. Amniocentesis was performed at 27 weeks. High resolution chromosome analysis revealed a karyotype with a 9;12 translocation, a pericentric inversion of chromosome 11, and a paracentric inversion of chromosome 13. Parental chromosome studies were normal. The mother was not on medication prior to her pregnancy and there was no known exposure to radiation. Delivery was at 34 weeks gestation. The phenotype consisted of micrognathia, low set ears, hypertelorism, and hydrodcephaly. Review of the literature revealed a single report with multiple de novo aberrations consisting of a 6;14 translocation and a deleted 7. This was diagnosed in the child of a woman with systemic lupus erythematous treated with azathioprine. These types of abnormalities have been known to be induced by chemical and radiation exposure. High resolution banding combined with molecular studies presently improve our ability to detect subtle structural aberrations.

  14. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    Science.gov (United States)

    Serikawa, Takehiro; Nishiyama, Kenichi; Tohyama, Jun; Tazawa, Ryushi; Goto, Kiyoe; Kuriyama, Yoko; Haino, Kazufumi; Kanemura, Yonehiro; Yamasaki, Mami; Nakata, Koh; Takakuwa, Koichi; Enomoto, Takayuki

    2014-11-01

    We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.

  15. Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.

    Science.gov (United States)

    Park, In Yang; Shin, Jong Chul; Kwon, Ji Young; Koo, Bo Kyung; Kim, Myungshin; Lim, Jihyang; Kim, Yonggoo; Han, Kyungja

    2009-08-01

    Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

  16. [Non-invasive prenatal testing: challenges for future implementation].

    Science.gov (United States)

    Henneman, Lidewij; Page-Chrisiaens, G C M L Lieve; Oepkes, Dick

    2015-01-01

    The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making.

  17. Human amniotic fluid: a source of stem cells for possible therapeutic use.

    Science.gov (United States)

    Dziadosz, Margaret; Basch, Ross S; Young, Bruce K

    2016-03-01

    Stem cells are undifferentiated cells with the capacity for differentiation. Amniotic fluid cells have emerged only recently as a possible source of stem cells for clinical purposes. There are no ethical or sampling constraints for the use of amniocentesis as a standard clinical procedure for obtaining an abundant supply of amniotic fluid cells. Amniotic fluid cells of human origin proliferate rapidly and are multipotent with the potential for expansion in vitro to multiple cell lines. Tissue engineering technologies that use amniotic fluid cells are being explored. Amniotic fluid cells may be of clinical benefit for fetal therapies, degenerative disease, and regenerative medicine applications. We present a comprehensive review of the evolution of human amniotic fluid cells as a possible modality for therapeutic use.

  18. Use of low-frequency electrical impedance measurements to determine phospholipid content in amniotic fluid

    Science.gov (United States)

    DeLuca, F.; Cametti, C.; Zimatore, G.; Maraviglia, B.; Pachi', A.

    1996-09-01

    In this report we propose a new method for an in vitro test of the foetal lung maturity based on the measurement of the electrical conductivity of the overall amniotic fluid obtained from transabdominal amniocentesis, since this quantity can be linked to a first approximation in a very simple way to the phospholipid content. We have carried out measurements of 85 different samples of amniotic fluid as a function of gestation weeks and we have observed a pronounced change of the electrical conductivity that reflects the increase in the phospholipid concentration occurring at the end of normal pregnancies. The method could be further developed to obtain similar information on in vivo experiments by means of bioelectric impedance tomography, taking advantage of the frequency dependence of the tissue electrical impedance.

  19. Amniotic fluid sludge as a marker of intra-amniotic infection and histological chorioamnionitis in cervical insufficiency: a report of four cases and literature review.

    Science.gov (United States)

    Paules, Cristina; Moreno, Esther; Gonzales, Ariel; Fabre, Ernesto; González de Agüero, Rafael; Oros, Daniel

    2016-01-01

    Amniotic fluid sludge (AFS) is defined as the presence of particulate matter in the amniotic fluid in close proximity to the cervix. Although its prevalence is known to correlate with the risk of preterm delivery, initial reports describe a strong association between AFS and microbial invasion of the amniotic cavity (MIAC) and histological chorioamnionitis. However, AFS is also present in uncomplicated pregnancies, and its prevalence appears to increase with gestational age. Recent evidence debates the usefulness of AFS as a marker of early preterm delivery risk. We present four cases with AFS diagnosed by transvaginal ultrasound at admission for cervical insufficiency between 20 and 24 weeks of gestation, with confirmed lower genital tract and intra-amniotic infections by amniocentesis and histological chorioamnionitis and funisitis. Our findings reinforce the presence of AFS as a useful marker of MIAC, chorioamnionitis and funisitis that increase the likelihood of preterm delivery at an extreme gestational age.

  20. Fetal Sonography for the Detection of Chromosomal Abnormality

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Gangneung (Korea, Republic of)

    2011-06-15

    Over the past decade, women's health clinicians have witnessed a shift of the paradigm for the approach to prenatal screening for chromosomal abnormalities. From an emphasis on age-based invasive diagnostic tests, women are now being offered a variety of noninvasive screening tests. Although there is exciting research and innovation in the field of noninvasive testing for fetal aneuploidy, there are currently two tests, and both are invasive, that are used in a routine manner to determine the presence of fetal aneuploidy: chorionic villous sampling and amniocentesis. The aim of this review was to investigate the effectiveness of prenatal sonography, including first trimester nuchal translucency screening and second trimester genetic sonography, for obtaining valid chromosomal abnormality screening test results

  1. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

    Directory of Open Access Journals (Sweden)

    Ori Shen

    2014-04-01

    Full Text Available The aim of this study was to examine if isolated fetal ventricular septal defect (VSD is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

  2. Cost-effectiveness analysis for triple markers serum screening for Down′s syndrome in Thai setting

    Directory of Open Access Journals (Sweden)

    Viroj Wiwanitkit

    2014-01-01

    Full Text Available Background: Down′s syndrome is an important congenital chromosomal disorder that can be seen around the world. The antenatal screening for this disorder is an important processing in present obstetrics. Objective: Due to the concept of first do no harm, the use of noninvasive test is recommended. The triple marker screening test has been introduced for a few years and acceptable for its effi cacy. Result: However, an important concern is on its cost-effectiveness. Here, the author analyze and present the cost-effectiveness of the triple markers serum screening for Down′s syndrome in Thai setting. Conclusion: According to this work, the cost per effectiveness of triple markers serum screening is slightly lower than standard amniocentesis test.

  3. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  4. Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

    Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

  5. Application of Type-B Ultrasonic in Diagnosis of Cow Reproductive Disease%B-超在母牛繁殖诊断中的应用概述

    Institute of Scientific and Technical Information of China (English)

    施巧婷; 李锋; 盛卫东; 冯亚杰; 王志方; 徐照学

    2012-01-01

    The paper reviewed the application of Type-B ultrasonic in diagnosis of cow reproductive diseases.It included the basic principle of ultrasonography,monitoring of ovaries,early pregnancy diagnosis,observation of uterus postpartum,folliculocenteses,amniocentesis,diagnosis of abnormal reproductive organ.Otherwise,the prospects of Type-B ultrasonic in diagnosis of cow reproductive diseases were also discussed.%本文综述了B-超在母牛繁殖诊断中的应用,主要包括:超声诊断原理,卵巢检测,早期妊娠诊断,产后子宫的监测,卵泡和羊膜穿刺,异常生殖器官的诊断,并对今后的发展做了展望。

  6. 超声引导下前壁胎盘羊膜腔灌注的安全性研究

    Institute of Scientific and Technical Information of China (English)

    张玉洁; 康佳丽; 邓玲红; 陈淑贤; 王冬昱; 刘丽芳

    2005-01-01

    羊膜腔灌注术(amniocentesis)现已成为围生医学临床上不可缺少的一种手段,应用范围越来越广泛,已受到围生医学的重视。若羊膜腔穿刺失败,对母婴皆可带来一些并发症。尤其是前壁胎盘者,羊膜腔灌注应慎重,我院近8年来,对60例前壁胎盘者行超声引导下羊膜腔灌注术,探讨其安全性。

  7. Prenatal Amniotic Fluid Cell Chromosome Examination in the Diagnosis of Fetal Abnormalities in the Elderly%羊膜腔穿刺羊水细胞染色体检查用于高龄孕妇胎儿畸形预见性诊断分析

    Institute of Scientific and Technical Information of China (English)

    王花花

    2016-01-01

    目的:探讨高龄孕妇进行孕中期羊膜腔穿刺羊水细胞培养染色体核型分析,提高对胎儿畸形的预见性诊断分析结果。方法随机选取该院2013年1月―2015年12月收治的714例高龄孕妇给予羊膜腔穿刺前的检查及超声诊断,行羊膜腔穿刺抽取羊水的孕妇,进行羊水细胞培养,制备染色体标本,分析高龄孕妇羊水胎儿细胞的染色体核型和胎儿染色体异常情况。结果该研究选取的714例高龄孕妇中染色体异常的分类有21三体综合征、18三体综合征、性染色体异常和其它的染色体异常。有23例高龄孕妇的染色体出现异常,检出率为3.22%;714例高龄孕妇中35~39岁占450例,发现胎儿染色体异常例数9例,检出率为2..00%为最低;44~46岁高龄孕妇占31例,发现胎儿染色体异常例数为3例,检出率为9.68%为最高。结论在产前对高龄孕妇进行羊膜腔穿刺羊水细胞染色体培养可以有效的检测胎儿的染色体异常情况,有效的对高龄孕妇分娩畸形胎儿进行预见性的诊断,明显降低新生儿的缺陷率。%Objective Discussion older pregnant women were second-trimester amniocentesis amniotic fluid cells of fetal malformation predictive diagnostic analysis of cultured karyotype analysis. Methods The study selected from our hospital in January 2013 to December 2015 in 714 cases of advanced maternal age to give pre amniocentesis examination and ultra-sound diagnosis, underwent amniocentesis and amniotic fluid of pregnant women, the amniotic cell culture prepared chromo-some specimen, analysis of women of advanced maternal age and fetal amniotic fluid cells stained color karyotype and fetal chromosomal abnormalities. Results The classification of chromosomal abnormalities in 714 cases of elderly women is 21, 18,, sex chromosome abnormalities and other chromosomal abnormalities. Have abnormal chromosomes in 23 cases of ad-vanced maternal age, the

  8. Matrix metalloproteinase-2 is elevated in midtrimester amniotic fluid prior to the development of preeclampsia

    Directory of Open Access Journals (Sweden)

    Daniel-Spiegel Etty

    2009-08-01

    Full Text Available Abstract Objective To evaluate levels of matrix metalloproteinases (MMP and their inhibitors (TIMP in second trimester amniotic fluid of women with hypertensive disorders compared to normotensive women. Study Design Amniotic fluid was obtained from 133 women undergoing genetic second trimester amniocentesis. Zymography was performed for MMP characterization and an MMP-2 ELISA kit was used to determine MMP-2 levels. TIMP-2 expression was evaluated using western blot. Results Mean amniotic fluid MMP-2 and TIMP-2 levels were significantly higher in women who developed a hypertensive disorder compared to normotensive women (P Conclusion Higher amniotic fluid MMP-2 and TIMP-2 levels are found in women who eventually develop preeclampsia.

  9. Sonographic Findings in Partial Type of Trisomy 18

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    Maryam Niknejadi

    2014-01-01

    Full Text Available Trisomy 18 (Edwards syndrome is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this case report, we present a partial type of trisomy 18 occurring through de novo unbalanced translocation of chromosomes 18 and 21. The ultrasound features enabling the early detection of trisomy 18 include a delayed ossification of calvarium combined with early onset of fetal growth restriction (FGR and the absence of nasal bone through performing triple test followed by amniocentesis. Finally, the parents decided to terminate the pregnancy.

  10. The prevalence and clinical significance of intraamniotic infection with Candida species in women with preterm labor.

    Science.gov (United States)

    Chaim, W; Mazor, M; Wiznitzer, A

    1992-01-01

    Intraamniotic infection is considered a major etiologic factor of preterm birth. Positive amniotic fluid cultures are rarely contaminated with Candida species. The presence of this microorganism is associated with a poor pregnancy outcome. Out of 773 transabdominal amniocenteses performed in women presenting with preterm labor and intact membranes, 77 patients (9.9%) had positive amniotic fluid cultures and in 5 women (6.5%) Candida species were identified. On the other hand, 625 amniocenteses were performed in women with preterm premature rupture of membranes and 178 (28%) had positive cultures. Only in 4 patients was Candida isolated (2.2%) (P = 0.13 Fisher's exact test). The importance of early and accurate diagnosis of intraamniotic infection with Candida is pointed out. A transabdominal amniocentesis for microbiological examination is suggested for every woman presenting with preterm labor or preterm premature rupture of membranes and especially for those who conceived with a retained IUD or cervical cerclage.

  11. Amniotic fluid iodine concentrations do not vary in pregnant women with varying iodine intake.

    Science.gov (United States)

    García-Fuentes, Eduardo; Gallo, Manuel; García, Laureano; Prieto, Stephanie; Alcaide-Torres, Javier; Santiago, Piedad; Velasco, Inés; Soriguer, Federico

    2008-06-01

    Iodine deficiency is an important clinical and public health problem. Its prevention begins with an adequate intake of iodine during pregnancy. International agencies recommend at least 200 microg iodine per d for pregnant women. We assessed whether iodine concentrations in the amniotic fluid of healthy pregnant women are independent of iodine intake. This cross-sectional, non-interventional study included 365 consecutive women who underwent amniocentesis to determine the fetal karyotype. The amniocentesis was performed with abdominal antisepsis using chlorhexidine. The iodine concentration was measured in urine and amniotic fluid. The study variables were the intake of iodized salt and multivitamin supplements or the prescription of a KI supplement. The mean level of urinary iodine was 139.0 (SD 94.5) microg/l and of amniotic fluid 15.81 (SD 7.09) microg/l. The women who consumed iodized salt and those who took a KI supplement had significantly higher levels of urinary iodine than those who did not (P = 0.01 and P = 0.004, respectively). The urinary iodine levels were not significantly different in the women who took a multivitamin supplement compared with those who did not take this supplement, independently of iodine concentration or multivitamin supplement. The concentrations of iodine in the amniotic fluid were similar, independent of the dietary iodine intake. Urine and amniotic fluid iodine concentrations were weakly correlated, although the amniotic fluid values were no higher in those women taking a KI supplement. KI prescription at recommended doses increases the iodine levels in the mother without influencing the iodine levels in the amniotic fluid.

  12. Contribution of risk factors to extremely, very and moderately preterm births - register-based analysis of 1,390,742 singleton births.

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    Sari Räisänen

    Full Text Available BACKGROUND: Preterm birth, defined as birth occurring before 37 weeks gestation, is one of the most significant contributors to neonatal mortality and morbidity, with long-term adverse consequences for health, and cognitive outcome. OBJECTIVE: The aim of the present study was to identify risk factors of preterm birth (≤36+6 weeks gestation among singleton births and to quantify the contribution of risk factors to socioeconomic disparities in preterm birth. METHODS: A retrospective population-based case-control study using data derived from the Finnish Medical Birth Register. A total population of singleton births in Finland from 1987-2010 (n = 1,390,742 was reviewed. RESULTS: Among all singleton births (n = 1,390,742, 4.6% (n = 63,340 were preterm (<37 weeks, of which 0.3% (n = 4,452 were classed as extremely preterm, 0.4% (n = 6,213 very preterm and 3.8% (n = 54,177 moderately preterm. Smoking alone explained up to 33% of the variation in extremely, very and moderately preterm birth incidence between high and the low socioeconomic status (SES groups. Reproductive risk factors (placental abruption, placenta previa, major congenital anomaly, amniocentesis, chorionic villus biopsy, anemia, stillbirth, small for gestational age (SGA and fetal sex altogether explained 7.7-25.0% of the variation in preterm birth between SES groups. CONCLUSIONS: Smoking explained about one third of the variation in preterm birth groups between SES groups whereas the contribution of reproductive risk factors including placental abruption, placenta previa, major congenital anomaly, amniocentesis, chorionic villus biopsy, anemia, stillbirth, SGA and fetal sex was up to one fourth.

  13. 荧光原位杂交技术在复杂染色体异常产前诊断中的应用%Application of fluorescence in situ hybridization in prenatal diagnosis of complex chromosomal abnormalities

    Institute of Scientific and Technical Information of China (English)

    沈艳艳; 李健; 孔辉; 吴慧南; 吴琼; 葛运生; 黄新力; 周裕林

    2009-01-01

    Objective To investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities. Methods Eleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH. Results The FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples. Conclusion FISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.%目的 探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在复杂染色体异常产前诊断中的应用价值.方法 对8例羊水、3例脐血常规G显带具有复杂染色体异常的产前诊断孕妇,应用FISH技术确定其复杂染色体重排及标记染色体的组成.结果 FISH技术证实了G-显带平衡易位的结果,同时明确了3例羊水中衍生染色体的组成、2例脐血中标记染色体的来源.结论 FISH技术具很高的敏感性和特异性,是明确染色体异常重要的分子细胞遗传学工具,其在产前诊断中的应用,可为临床提供更准确全面的实验依据.

  14. 三种常用侵入性产前诊断技术的临床结局分析

    Institute of Scientific and Technical Information of China (English)

    李娇; 杜娟; 许涓涓; 李萌; 黄萍丽

    2014-01-01

    Objective we analyzed the success rate,effectiveness,safety and complications of these in-vasive diagnostic techniques.Method Summarized all invasive prenatal diagnostic surgical cases of Ab-dominal CVS,amniocentesis and umbilical vein puncture of Guangxi MCH genetic clinics from January 2010 to December 2012.Results Three kinds of invasive prenatal diagnostic techniques can safely and ef-fectively prevent birth defects,amniocentesis with the highest success rate,There is no significant differ-ence in the miscarriage rate.Conclusions Invasive prenatal diagnosis can safely and effectively prevent birth defects,and could be widely applied.%目的:了解3种侵入性产前诊断技术的成功率、有效性、安全性及其手术并发症。方法总结2010年1月至2012年12月广西壮族自治区妇幼保健院优生遗传门诊所进行的经腹绒毛穿刺、羊水穿刺、脐静脉穿刺手术病例,对其进行回顾性分析。结果3种侵入性产前诊断技术均能安全、有效地预防出生缺陷,羊水穿刺一次成功率最高,但流产率无显著性差异。结论侵入性产前诊断技术能安全有效地预防出生缺陷,值得推广。

  15. Persistent Low Toxoplasma IgG Avidity Is Common in Pregnancy: Experience from Antenatal Testing in Norway.

    Directory of Open Access Journals (Sweden)

    Gry Findal

    Full Text Available The parasite Toxoplasma gondii might harm the fetus if a woman is infected during pregnancy. IgG seroconversion and significant increase in IgG antibody amount in pregnancy indicates maternal infection. Presence of toxoplasma immunoglobulin M (IgM, immunoglobulin G (IgG and low IgG avidity in a single serum sample indicates possible maternal infection, but positive toxoplasma IgM and low IgG avidity may persist for months and even years. We aimed to evaluate avidity development during pregnancy in a retrospective study. Serial blood samples from 176 pregnant women admitted to Oslo University Hospital 1993-2013 for amniocentesis because of suspected toxoplasma infection were included. Data were obtained from journals and laboratory records. The avidity method used was based on Platelia Toxo IgG assay. Mean maternal age at first serology was 29.9 years (SD 5.2, range 18-42. In 37 (21% women only the avidity increased from low to high in < 3 months. In 139 (79% the IgG avidity remained below the high threshold ≥ 3 months and within this group 74 (42% women had stable low IgG avidity during the observation period. Median gestational age at first test was 10.6 weeks (range 4.6-28.7. Fetal infection was detected in four children, but none among children whose mother had stable low IgG avidity. The first antenatal toxoplasma serology should ideally be collected in early pregnancy and if stable values of toxoplasma IgM and low IgG-avidity are detected in a second sample after three to four weeks, the need for amniocentesis can be questioned.

  16. Frequency and clinical significance of short cervix in patients with preterm premature rupture of membranes

    Science.gov (United States)

    Lee, Seung Mi; Park, Kyo Hoon; Jung, Eun Young; Jang, Ji Ae; Yoo, Ha-Na

    2017-01-01

    Objective Cervical length measurement has been uggested as a useful tool for predicting intra-amniotic infection/inflammation in preterm labor, but little information is available in the setting of preterm premature rupture of membranes (pPROM). We aimed to determine whether a short cervical length is independently associated with an increased risk of intra-amniotic infection or inflammation and impending preterm delivery in women with pPROM. Methods This was a retrospective cohort study involving 171 consecutive singleton pregnant women with pPROM (21+0–33+6 weeks’ gestation), who underwent amniocentesis. Amniotic fluid (AF) was cultured, and assayed for interleukin (IL)-6 and IL-8. Cervical length was measured at the time of amniocentesis by transvaginal ultrasonography with an aseptic technique. Short cervical length was defined as a cervical length of ≤15 mm. Intra-amniotic infection was defined as a positive AF culture for microorganisms and intra-amniotic inflammation was defined as elevated AF concentrations of IL-6 or IL-8 (IL-6 ≥1.5 ng/mL and/or IL-8 ≥1.3 ng/mL). Results Fifty (29.2%) women had a sonographic cervical length of ≤15mm. On univariate analysis, short cervical length was associated with an increased risk for intra-amniotic infection and/or inflammation; no other parameters studied showed a significant association. Multivariable analyses indicated that short cervical length was significantly associated with a higher risk of impending preterm delivery (within 2 days of measurement, within 7 days of measurement, and before 34 weeks), and remained significant after adjustment for potential confounders. Conclusion In women with pPROM, short cervical length is associated with an increased risk for intra-amniotic infection/inflammation and associated with impending preterm delivery, independent of the presence of intra-amniotic infection/inflammation. PMID:28358839

  17. Application Value of Amniotic Cell Culture in the Prenatal Diagnosis%羊水细胞培养在产前诊断中的应用价值

    Institute of Scientific and Technical Information of China (English)

    张赫

    2016-01-01

    目的:探讨羊水细胞培养在产前诊断中的应用价值。方法整群选取2010年5月—2015年10月在医院进行产前诊断的216例高危孕妇,给予羊膜穿刺和羊水细胞培养后分析染色体核型。结果所有孕妇穿刺成功率为99.1%,经过羊水细胞培养后,211例为正常核型,占97.7%,5例为异常核型,占2.3%。结论对孕妇进行羊水细胞培养在产前诊断中意义重大,可以预防先天性缺陷患儿的发生,提高新生儿质量,值得应用。%Objective To discuss the application value of amniotic cell culture in the prenatal diagnosis. Methods 216 cas-es of high risk pregnant women with prenatal diagnosis treated in our hospital from May 2010 to October 2015 were select-ed, and the chromosome karyotypes were analyzed after giving amniocentesis and amniotic cell culture. Results The success rate of amniocentesis of all pregnant women was 99.1%, 211 cases were normal karyotypes, accounting for 97.7%, 5 cases were abnormal karyotypes, accounting for 2.3%. Conclusion Amniotic cell culture in the prenatal diagnosis is of great sig-nificance, which can prevent the occurrence of children with congenital defects and improve the quality of newborns, and it is worth application.

  18. Application and evaluation of invasive prenatal diagnostic techniques and analysis of chromosomal karyotype%两种侵入性产前诊断技术的评估及染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    王丽琼; 王新; 张绍菱; 周仲民; 朱付凡; 丁依玲

    2013-01-01

    目的:系统评估现有的侵入性产前诊断技术的安全性、有效性及其手术并发症的发生率,并对产前诊断指征及各种异常核型的临床意义进行探讨.方法:回顾性总结分析2005年3月至2012年5月中南大学湘雅二医院产前诊断中心所进行的羊膜腔穿刺、脐静脉穿刺的病例并分析其手术指征、成功率、安全性和并发症等情况;对25例异常染色体核型进行分析.结果:2005年3月至2012年5月共对669例孕妇进行了侵入性产前诊断,其中羊膜腔穿刺组598例,脐静脉穿刺组71例,与脐静脉穿刺组比较,羊膜腔穿刺组有更高的穿刺成功率(91.54% vs 100%,P<0.05),更低的流产率(1.41% vs 0.33%,P<0.05)、异常染色体发现率(11.27% vs 2.84%,P<0.05)及医疗费用(880元vs800元,P<0.05).羊膜腔穿刺术及脐静脉穿刺的产前诊断指征前3位均为唐筛高风险、高龄孕妇、超声检查异常.侵入性产前诊断共发现异常染色体25例,其中21-三体6例,性染色体数目异常4例,常染色体平衡易位7例,标记染色体1例,嵌合体7例.结论:羊膜腔穿刺作为成熟的产前诊断取材技术其临床应用是安全有效的;脐静脉穿刺的手术并发症发生率远高于羊膜腔穿刺不应作为染色体异常产前诊断的常规手段.染色体核型分析不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷的发生率.%Objective:To evaluate the safety,effectiveness and complications of serial invasive prenatal diagnostic techniques,and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.Methods:We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital.The indication of the procedure,successful rate and complications were evaluated,and 25 abnormal

  19. Detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis and procedure-related complications%不同指征介入性产前诊断的异常染色体检出率及其安全性分析

    Institute of Scientific and Technical Information of China (English)

    李洁; 戴晨燕; 杨燕; 胡娅莉; 茹形; 朱海燕; 朱瑞芳; 张颖; 顾燕; 吴星; 杨滢; 段红蕾

    2009-01-01

    目的 探讨不同指征介入性产前诊断(羊膜腔穿刺和脐血管穿刺)的异常染色体检出率以及介入性产前诊断技术的安全性. 方法回顾性分析本中心1264例介入性产前诊断(1082例羊膜腔穿刺和182例脐血管穿刺)的手术指征、不同指征的异常染色体检出率及穿刺相关并发症.结果 1264例介入性产前诊断中,穿刺指征分别为:血清学筛查高风险651例(51.5%)、孕妇高龄(年龄≥35岁)318例(25.2%)、超声胎儿结构异常136例(10.8%)、不良妊娠史88例(6.9%)、血清学筛查一项或两项标志物MoM值异常52例(4.1%)和夫妇一方染色体平衡易位携带19例(1.5%).共检出有临床意义的染色体异常37例,其穿刺指征依次为:超声提示胎儿结构异常20例(20/136,14.7%),血清学筛查高风险12例(12/651,1.8%),至少一项标志物MoM值异常1例(1/52,1.9%),不良妊娠史1例(1/88,1.1%),夫妇一方染色体平衡易位携带3例(3/19,15.8%),孕妇年龄≥35岁者未检出有临床意义的染色体异常(0/318).1264例介入性产前诊断中共有5例自然流产,其中与羊膜腔穿刺相关的胎儿丢失率为0.28%(3/1082),与脐血管穿刺相关的胎儿丢失率为1.09%(2/182),两者相比差异无统计学意义(P=0.154).脐血管穿刺后孕妇心慌、腹痛以及胎心减慢等并发症的发生率明显高于羊膜腔穿刺组(9.89%和0.18%,P=0.001). 结论超声发现胎儿结构异常应常规检查胎儿核型;单纯高龄作为介入性产前诊断的指征值得商榷;介入性产前诊断从安全性角度应首选羊膜腔穿刺术.%Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications

  20. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  1. Cien cariotipos fetales acreditados en Costa Rica, años 2009 y 2010 One Hundred Accredited Fetal Karyotypes in Costa Rica During 2009 and 2010

    Directory of Open Access Journals (Sweden)

    Isabel Castro-Volio

    2011-12-01

    Full Text Available Objetivo: La identificación de cromosomopatía fetal es un factor importante para el mejor manejo perinatal y pediátrico en los embarazos de alto riesgo. El objetivo de esta publicación es mostrar al personal de salud, los resultados de nuestros ensayos de cariotipo en líquido amniótico, obtenidos desde el momento en que han sido acreditados por el Ente Costarricense de Acreditación y compararlos con los estándares internacionales. Métodos: Se realizó cultivo abierto de 100 muestras recibidas desde enero del 2009 hasta diciembre 2010, provenientes de hospitales de la seguridad social y de servicios de salud privados y la cosecha de los “amniocitos” mediante suspensión enzimática. La indicación de amniocentesis en el 65% de los casos fue por ecografía anormal y el 28% de las veces por edad materna avanzada. Resultados: La cromosomopatía fetal encontrada fue de 35%. Para muestras en cantidad y calidad aceptables, el éxito de los cultivos fue 100% y el tiempo de respuesta fue de 13 días promedio. Estos datos concuerdan con las normas internacionales en esta materia. Además, anualmente participamos satisfactoriamente en rondas de evaluación externa de la calidad organizados por la Cytogenetic European Quality Assessment. Conclusión: En Costa Rica contamos con servicios de perinatología con equipos ecográficos muy sofisticados y con personal altamente especializado, de manera que los defectos anatómicos fetales y otras patologías rara vez pasan desapercibidas. El cariotipo fetal es el complemento indispensable para el abordaje clínico óptimo de estos casos, sobre todo, cuando se cuenta con la calidad que garantizan los ensayos acreditados.Aims: The identification of fetal abnormal chromosomes in high risk pregnancies, allows proper pediatric and obstetric management of the cases as well as genetic counseling. The results of 100 genetic amniocentesis from January 2009 to December 2010, since the accreditation of these

  2. The results and analysis on the prenatal screening for 7952 cases of pregnant women with serum in Xiaoshan area,Hangzhou%杭州萧山区7952例孕妇血清产前筛查结果与分娩结局的分析

    Institute of Scientific and Technical Information of China (English)

    许文龙; 顾柳芬; 窦琳琳; 楼乐飞

    2012-01-01

    Objective: To search the prenatal screening on second trimester fetusfor fetal chromosomal abnormalities and neural tube defects, in order to reduce the birth deficiency. Methods; Time - resolved fluorescence immunoassay are used to tests the concentrations of AFP, Free - β - HCG in the serum of 7952 middle period pregnant women whose were pregnant for 15 - 19 weeks in Xiaoshan. And the childbirth of pregnant women were followed up. Results: 7952 pregnant women accepted prenatal screening, the high risk rate is 2. 79% (222/7952). Among them, 189 cases indicate DS, 8 cases indicate 18 -trisomy, 25 cases indicate NTD. All pregnant women were follow - up and 112 cases were amniocentesis in 222 cases because of high risk. The rate of amniocentesis is 50.45%. Abnormal incidence was 6.30% (14/222); by the way of amniocentesis and ultrasound, 3 cases of 21 -trisomy syndrome , 1 case of endocardial defect and 1 caes of chromosome constriction extended were found. There are 96 low - risk abnormal labor from 7730 cases which are low — risk abnormalities, accounting for 1. 24% of low - risk population. Than a total of 110 cases of abnormal birth, of which 31 cases of spontaneous abortion, 41 cases of medical termination of pregnancy, 19 cases of stillbirth, 19 cases of neonatal abnormalities. Conclusion: The combination of prenatal screening and prenatal diagnosis are important for preventing the born of children with chromosomal abnormalities and other congenital malformations.%目的 了解孕中期产前筛查对胎儿染色体异常及神经管缺陷的作用,以降低出生缺陷.方法 应用时间分辨荧光免疫法对萧山区7952例孕15 ~19+6周孕妇血清AFP和Free -β - HCG进行产前筛查,同时对孕妇分娩结局进行随访结果.结果 血清产前筛查7952人,高风险222例,高风险率为2.79%.其中21-三体综合征高风险189例;18-三体综合征高风险8例;NTD高风险25例.7952例月孕妇分娩随访结果显示:高风险222例

  3. 疤痕子宫妊娠引产的临床回顾性分析

    Institute of Scientific and Technical Information of China (English)

    余倩倩

    2014-01-01

    目的:探讨疤痕子宫孕妇妊娠引产的临床特点及安全性。方法:选择我站2012年1月至2014年1月收治的疤痕子宫妊娠引产的患者60例,随机分为两组,观察组采用米素前列醇联合米非司酮处理。对照组采用利凡诺羊膜腔穿刺处理,对两组临床资料进行回顾性分析。结果:观察组30例未加用缩宫素,宫缩在临产后呈正常状态,28例引产成功,总成功率为93.3%。对照组30例于72h再行利凡诺100mg羊膜腔穿刺后24例引产成率,失败6例,总成功率为80%。宫颈裂伤、术后清宫率、宫颈裂伤率、腹痛程度、胎膜残留、用药至分发娩总时间观察组状况均优于对照组,差异有统计学意义(P<005)。结论:在疤痕子宫妊娠的引产中,采用米非司酮联合米索前列醇处理效果明显优于利凡诺羊膜腔穿刺,降低国产时出血量、缩短引产时间、减少胎膜残留、宫颈损伤的发生率,使惠者痛苦减轻,提高了引产成功率,明显改善了患者生存质量。%Objective:To investigate the clinical characteristics and safety of uterine scar pregnancy induced labor.Methods:60 patients with me from 2012 January to 2014 January were uterine scar pregnancy,were randomly divided into two groups,the observation group with misoprostol and mifepristone treatment.The control group were treated with rivanol amniocentesis treat-ment,the clinical data of two patients were retrospectively analyzed.Results:the observation group of 30 cases without using oxytocin,uterine contraction was normal in 28 cases after labor,la-bor,the total success rate was 93.3%.30 cases of the control group in 72h and rivanol amniocentesis after 100mg induction rate of 24 cases,6 cases failed,the total success rate was 80%. Cervical laceration,postoperative curet age rate,cervical laceration rate,abdominal pain,drug delivery,fetal membranes residue to distribute the total time of observation

  4. 乳酸依沙吖啶、米非司酮、米索前列醇不同给药方法用于瘢痕子宫中期妊娠引产的比较%Comparison of Ethacridine, Mifepristone, Misoprostol for induced labor in second trimester pregnancy with scarred uterus

    Institute of Scientific and Technical Information of China (English)

    黄红英

    2012-01-01

    目的 探讨瘢痕子宫中期妊娠(妊娠16~26周)不同引产结果 的疗效.方法 将90例瘢痕子宫中期妊娠自愿要求引产的孕妇随机分为A、B、C三组,每组30例,A组采取乳酸依沙吖啶羊膜腔内注射联合阴道放置米索前列醇,B组采取口服米非司酮联合乳酸依沙吖啶羊膜腔内注射,C组采取口服米非司酮联合阴道放置米索前列醇.观察三种引产结果 宫缩发动时间、排胎时间、阴道出血量、完全流产率及术后清宫率.结果 三种引产结果 完全流产率比较,差异无统计学意义(P > 0.05);B组在宫缩发动时间和阴道出血量方面显著少于A组和C组(P < 0.01);B组和C组在排胎时间方面少于A组;B组术后清宫率显著低于A组和C组.结论 三种引产结果 应用于瘢痕子宫中期妊娠引产各有利弊,其中米非司酮口服联合乳酸依沙吖啶羊膜腔内注射法用于引产阴道出血量少,术后清宫率低,不良反应少,明显优于其他两种引产方式,适合临床推广应用.%Objective To discuss the curative effect of different methods for induced labor in second trimester pregnancy (16-26 weeks of pregnancy) with scarred uterus. Methods 90 pregnant women in second trimester pregnancy with scarred uterus who asked for induced labor voluntarily were divided into groups A, B and C randomly, with 30 cases in each group. And group A was treated by amniocentesis injection Ethacridine Lactate combined with vaginal Misoprostol; group B was treated by orally Mifepristone combined with amniocentesis injection Ethacridine Lactate; and group C was treated by orally Mifepristone combined with vaginal Misoprostol. And then the contractions launch time, fetus discharge time, vaginal bleeding volume, completely abortion rate, and postoperation cleaning rate of three methods for induced labor were observed. Results There were no statistically significant differences (P > 0.05) compared with completely abortion rate of three

  5. A midtrimester procedure, not without its risks... Saline abortion: a review of the experience at Kapiolani hospital.

    Science.gov (United States)

    Hooper, T I; Smith, R G; Pion, R J

    1973-01-01

    The experience with 107 saline instillation abortions at Kapiolani Maternity and Gynecologic Hospital in Honolulu, during the first 7 months of 1972 is reviewed. 57.9% of the patients were primigravidas and 40.2% were multigravidas. Estimated length of gestation ranged from 14 to 23 weeks, with a mean of 17.7. 87/8% of the women were successfully aborted on the initial attempt, while technical difficulty with amniocentesis prevented the instillation of saline in 10.3%, and the method itself failed for 2. 30% of the primary attempts at abortion failed when gestation length was estimated at 15 to 16 weeks compared to a 7% failure rate at 17 to 18 weeks; no failures occurred at 19 weeks or more. Mean induction-abortion interval was 25.7 hours; gravidity appeared to exert little influence. 32.7% of the patients displayed postabortive complications which were defined by the following criteria: 1) failure of amniocentesis or failure to abort; 2) accidental intravascular injection of saline and immediate reaction consistent with this clinical syndrome; 3) fever, any recorded temperature of 100.6 degrees Farenheit or greater; 4) retained tissue; 5) hemorrhage, a decrease in hemoglobin of 2 gm or more. 14% of the women developed fever while failed abortion occurred for 12.1% and 10.3% displayed more than 1 complication. The highest complication rate (40%) occurred in 13-16 week gestation group; the lowest (29.6%) in the 17-20 weeks interval. A greater risk was found to exist for the very young patient (15 years and under) and the older patient (age 30 and over); complication rates were 50% and 40% respectively, compared to a rate of 25% for age 29. The group of patients having greater than 150 cc of amniotic fluid removed and greater than 150 cc of hypertonic saline instilled had the shortest interval to abortion. While complications encountered in this series of 107 patients were mainly minor, it should be noted that the incidence of these complications as well as the

  6. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

    Directory of Open Access Journals (Sweden)

    Gekas J

    2014-07-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval University, Québec City, Quebec, Canada; 2Department of Medical Biology, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, Canada; 5Department of Obstetrics and Gynecology, Sainte Justine Hospital, Montreal, Canada; 6Department of Social and Preventive Medicine, 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, CanadaAbstract: Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21] generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype, which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an

  7. Comparative analysis of amniotic fluid lamellar body count and foam stability test as indices of fetal lung maturity

    Directory of Open Access Journals (Sweden)

    Višnjevac Nemanja

    2010-01-01

    Full Text Available Introduction. Respiratory distress syndrome of the newborn caused by the fetal lung immaturity is a very serious clinical problem. Different tests of prenatal analysis of amniotic fluid, such as lamellar body count and Clements’ test, are available for predicting the fetal lung maturity. Material and methods. A prospective clinical study was conducted on amniotic fluid samples from 2005 to 2006. The amniotic fluid samples were obtained at the gestational age of 30 to 42 weeks and collected by vaginal amniotomy, amniotomy during Caesarean section and 72 hours before the delivery by amniocentesis. A haematology analyzer (Nikon-Kohden® was used to determine the lamellar body counts. Clements’ test involved adding an equal volume of 96% ethanol to the multiple amniotic fluid volume (1:2, 1:4, 1:16, 1:32, followed by shaking and noting the presence of ring of bubbles. After the delivery, we compared the lamellar body count results and Clements’ test and the outcome of pregnancies, primarily the development of respiratory distress syndrome. The most specific lamellar body cutoffs for maturity and immaturity were determined according to receiver operating characteristic curves. Results and Discussion. Out of 232 amniotic fluid samples which were tested, 112 samples were collected after vaginal amniotomy, 88 during the Caesarean delivery and 32 samples by amniocentesis. The overall incidence of respiratory distress syndrome was 14.6%. Receiver operating characteristic curves were used to identify cutoff points for the test. We found that both tests are good screening tests for predicting the fetal lung maturity with the area under the curve of 0.782 in Clements’ test and 0.751 in the lamellar body count. Clements’ cutoff 2 with sensitivity of 67.6% and specificity of 72.2%, proved best in the prediction of the fetal lung maturity. The lamellar body count cutoff of 42x10³/μl had the sensitivity of 82.4% and specificity of 64.6% in predicting

  8. Contagem de corpos lamelares versus teste de Clements na avaliação da maturidade pulmonar fetal em gestantes diabéticas Lamellar body count versus the shake test in the assessment of fetal lung maturity in diabetics

    Directory of Open Access Journals (Sweden)

    Guilherme Loureiro Fernandes

    2006-08-01

    Full Text Available OBJETIVOS: analisar a contagem dos corpos lamelares em comparação com o teste de Clements na avaliação da maturidade pulmonar fetal em gestantes diabéticas. MÉTODOS: estudo prospectivo envolvendo 62 gestantes submetidas a amniocentese entre a 26ª e a 39ª semana. O líquido amniótico foi imediatamente submetido ao teste de Clements e à contagem de corpos lamelares. Os partos ocorreram até três dias após a amniocentese. A ocorrência de síndrome de angústia respiratória, indicativa de imaturidade pulmonar, foi confrontada com os resultados de imaturidade da amniocentese (ausência de anel completo no 3º tubo e menos de 50.000 corpos lamelares. O teste do chi2 foi utilizado para comparar o desempenho dos dois métodos e pPURPOSE: to assess the performance of lamellar body count compared to the shake (Clements test in the prediction of fetal lung maturity in diabetics. METHODS: prospective study of 62 patients who underwent amniocentesis between the 26th and 39th week of pregnancy. Immediately after collection, the amniotic fluid sample was submitted to the shake test and lamellar body count. Deliveries occurred within three days of amniocentesis. Immature test results (absence of a complete bubble ring in the third tube for the shake test and less than 50,000 lamellar bodies were confronted with the occurrence of pulmonary immaturity in the neonate (respiratory distress syndrome. The performance of both tests was compared using the chi2 test and p<0.05 was considered to be significant. RESULTS: seven infants had respiratory distress syndrome (11.3%. The lamellar body count and shake test were similar regarding sensitivity (100 vs 71.4%, respectively and negative predictive value (100 vs 93.5%. Lamellar body count was superior as regards specificity (87.3 vs 52.7%, p=0.0001, positive predictive value (50 vs 16.1%, p=0.017, and accuracy (88.7 vs 54.8%, p<0.001. CONCLUSIONS: lamellar body count is a simple and accurate method of

  9. 妊娠中期超声筛查胎儿Turner综合征的临床价值%Clinical Value of Ultrasonography in Screening Turner Syndrome (45, X) During the Second Trimester

    Institute of Scientific and Technical Information of China (English)

    潘玉萍; 蔡爱露; 王晓光; 韩冰; 王冰; 王丽芝; 王岳平

    2012-01-01

    Objective To investigate the clinical value of ultrasonography in screening Turner syndrome(45 , X) during the second trimester. Methods Amniocentesis were performed on 3 948 pregnant women with indications for prenatal diagnosis to detect karyotype of the fetus during second trimester, The detection rate of Turner syndrome(45 , X) was compared in pregnant women of different indications. To analyze the relationship between the ultrasonography abnormalities and Turner syndrome(45 ,X). Results In chromosomal karyotypes analysis of 3 948 pregnant women by amniocentesis,8 Turner syndrome were detected, the detection rate of Turner syndrome was 0. 20%, There were 120 in 3 948 pregnant women with ultrasonography abnormalities. 2 Turner syndrome(45 ,X) were found of them and the detection rate of Turner syndrome (45,X)was 1. 67%, the detection rate of Turner syndrome (45 ,X) detected by ultrasound (1. 67%) was higher than advanced age group(0. 11%) ,the Down's syndrome high risk group(0. 06%)(P< 0. 05). Conclusions During the second trimester, ultrasonography has great value in screening Turner syndrome (45, X).%目的 探讨妊娠中期超声筛查胎儿Turner综合征(45,X)的临床价值.方法 在妊娠中期对有产前诊断指征的3 948例孕妇行羊水穿刺术检查染色体核型,比较不同指征孕妇Turner综合征(45,X)的检出率,并分析Turner综合征(45,X)与超声异常的关系.结果 接受羊水穿刺的3 948例孕妇中,检出Turner综合征8例,Turner综合征检出率0.20%,3 948例孕妇中超声异常120例,检出Turner综合征(45,X)2例,检出率1.67%.超声异常组Turner综合征(45,X)检出率(1.67%)明显高于高龄孕妇组(0.11%)、唐氏高危组(0.06%),P<0.05.结论 妊娠中期超声筛查胎儿对早期发现Turner综合征(45,X)有很大的价值.

  10. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

    Institute of Scientific and Technical Information of China (English)

    ZHANG Lin; ZHANG Xiao-hong; LIANG Mei-ying; REN Mei-hong

    2010-01-01

    Background Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.Methods From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10-12 weeks of gestation), amniocentesis in mid-trimester (16-28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16-37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.Results Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P=0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P=0.000).Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound

  11. The Clinical Efficacy of Rivanol Combined with Mifepristone in the Treatment of the Termination of Second Trimester Pregnancy%米非司酮联合利凡诺用于中孕引产的临床效果

    Institute of Scientific and Technical Information of China (English)

    李玲

    2013-01-01

    Objective:To evaluate the clinical efficacy of rivanol combined with mifepristone for the termination of second trimester pregnancy.Methods:The clinical data of 60 cases of termination of second trimester pregnancy (14-27 week) were analyzed retrospectively. The experimental group contained 30 cases. They took 75mg of mifeprist one orally at first. At the same time they conducted the amniocentesis with injection of 100mg of rivanol. They further took 75mg of mifepristone orally 12 hours later, all of which added up to a total of 150mg. The other 30 cases in the control group conducted the amniocentesis with injection of 100mg of rivanol directly.Results:In the experimental group, the mean time for fetal delivery was shortened significantly. It also has a lower rate of placental membrane residues and less bleeding. Conclusion:Due to the significant efficacy, it is worthy of being widely applied in clinic.%目的:评价米非司酮联合利凡诺用于中孕引产的效果。方法:回顾性分析某医院妊娠14~27周中孕要求引产患者60例,随机分为两组,其中实验组30例,先口服米非司酮75mg,同时行羊膜腔穿刺注射利凡诺100mg,12h后再口服75mg,共150mg;对照组30例直接行羊膜腔穿刺注射利凡诺100mg。结果:实验组能明显缩短胎儿娩出时间,胎盘胎膜残留率低,出血量少。结论:米非司酮联合利凡诺用于中孕引产具有显著的效果,值得临床推广应用。

  12. Discussion on relationship between chromosome hetermorphism and reproductive abnormality%染色体异态性与生殖异常关系的探讨

    Institute of Scientific and Technical Information of China (English)

    邵敏杰; 高雪峰; 焦丽萍; 张小为; 乔杰

    2011-01-01

    Objective: To study the relationship between chromosome hetermorphisms and reproductive abnormalities. Methods:3300 patients with reproductive abnormality as case group, 3990 amniocentesis samples as the normal group. Chromosome analyses were done, and compared the results of two grops. Results: There were 256 patients with chromosome hetermorphisms among 3300 case groups, the frequence was 7.75%. 87 with chromosome hetermorphisms among 3990 amniocentesis samples and the frequency was 2. 23%. Y chromosome hetermorphisms is the most frequent type in both groups. Conclusion: The hetermorphism frequency of case group is three higher than control group, and chromosome hetermorphism frequency in men is higher than women. Azoospermia and oligospermia are the common clinical phenotype in men. Which indicate that chromosome hetermorphisms may be have an effect on human reproduct, which could interfere with male meiosis, eventually to infertility.%目的 探讨染色体异态性对生育异常患者的影响.方法 3300例存在生育问题的患者为病例组,3990例进行产前诊断的羊水染色体检查为对照组,分析两组染色体异态性的发生率,结合临床病史进行分析.结果 病例组3300例患者,发现256例存在染色体异态性,其发生率为7.75%.对照组3990例羊水标本,87例为多态染色体核型,发生率为2.23%(87/3990).病例组和对照组均以Y染色体变异最常见.结论 存在生育问题患者染色体异态性的发生率较对照组高三倍左右,男性染色体异态性的发生率高于女性患者,病例组多态患者中以少精子症和无精子症最常见.提示染色体异态性对人类生育可能存在一定的影响,尤其影响男性配子的减数分裂,最终导致不育.

  13. 妊娠中期母血清唐氏综合征三联筛查4 680例与不良妊娠结果分析%Chromosomal abnormalities and adverse pregnancy outcome with maternal serum second trimester triple screening test for fetal Down syndrome in 4 860 Chinese women

    Institute of Scientific and Technical Information of China (English)

    夏燕萍; 朱铭伟; 李笑天; 周和平; 王静; 吕菊香; Nanbert ZHONG

    2006-01-01

    Objective:To investigate the efficiency of maternal serum triple screening for the genetic abnormality in second-trimester and the morbidity of adverse pregnancy outcome in false positive results of the test. Methods: A total of 4 680 pregnant women with singleton pregnancies assigned in Obs & Gyn Hospital, Fudan University, underwent triple screening test (alpha fetoprotein, AFP; human chorionic gonadotropin, HCG and unconjugated estriol, uE3) by fluorescence enzyme immunoassay between 2003 and 2005. The valid MoM (Multiples of Median) value of mid-trimester serum AFP, uE3, and hCG and risk assessments was provided by Beckman Coulter Co. When applied in the prenatal Down syndrome screening service. The study compares the incidence of chromosomal abnormalities with Down syndrome in screen positive women and compares to the MoM value established in the literature. The risks of having a fetus with congenital abnormalities or of developing obstetric complications in the screen positive women with their matched controls.Results:The MoM values for the triple tests of our study are similar to established values of literature. Only 51.01% women with pregnancies agree to receive screening. Amniocentesis utilization rate was 55.12% in the screen-positive pregnancies. The false positive rate was 6.89% and the median of maternal age of the women was 28.13 (range 19 to 49) years old. Chromosomal abnormalities were identified in 21 pregnancies, including 9 cases of trisomy 21.The detection rate was 77.77%. Pregnancies with positive screening results had a significantly higher risk of adverse outcomes than those with negative results (P< 0.05). Whereas there was no difference in the incidences of fetal congenital appearance or skeleton abnormality. Conclusion: Adjusting MoM values of local unaffected populations is limited to increasing the detection rate. Because chromosomal defects have variable exhibitions, amniocentesis utilization is still a choice for screen

  14. 1016例孕中期孕妇羊水细胞的培养及染色体核型分析%Amniotic cell culture and karyotype analysis of 1 016 pregnant women in second trimester

    Institute of Scientific and Technical Information of China (English)

    黎永鉴; 闫丽琼; 庞义坚

    2014-01-01

    Objective To investigate the application value of amniotic cell culture and karyotype analysis in prenatal diagnosis . Methods 1 016 pregnant women in second trimester were subject to amniocentesis under the guidance of B-type ultrasonic inspec-tion ,and the cell culture and karyotype analysis were performed on the amniotic fluid which had been drawn out .Results Among 1 016 pregnant women ,1 011(99 .5% ) succeeded in the first operation of amniocentesis and cell culture .The detection rate of fetal chromosomal abnormal karyotype was 10 .3% (105/1 016) ,in which 8 .3% (85/1 016) of structural abnormality and 2 .0%(20/1 016) of quantity abnormality .856 cases were received follow-up .Conclusion Amniotic fluid cell culture and karyotype analy-sis is a safe and reliable method for prenatal diagnosis .%目的:探讨羊水细胞培养和染色体核型分析在产前诊断中的的应用价值。方法对1016例孕中期孕妇,在B型超声波检查的监护下行羊膜腔穿刺术,对抽出的羊水进行细胞培养及染色体核型分析。结果 1016例孕妇中,一次性羊水穿刺、细胞培养成功1011例(99.5%)。胎儿染色体异常核型检出率为10.3%(105/1016),其中,结构异常8.3%(85/1016);数目异常2.0%(20/1016)。856例接受随访。结论羊水细胞培养及染色体核型分析是安全、可靠的产前诊断方法。

  15. A case of neonatal alloimmune thrombocytopenia in the presence of both anti-HPA-4b and anti-HPA-5b antibody: clinical and serological analysis of the subsequent pregnancy.

    Science.gov (United States)

    Kiyokawa, Tomoko; Koh, Yangsook; Mimura, Kazuya; Nakayama, Kotarosumitomo; Hosokawa, Mika; Sakuragi, Mikiko; Morikawa, Tamayo; Nakao, Mayumi; Aochi, Hiroshi; Fukumori, Yasuo; Kanagawa, Takeshi; Nagamine, Keisuke; Kimura, Tadashi; Tomiyama, Yoshiaki

    2014-10-01

    Neonatal alloimmune thrombocytopenia (NAIT) is induced by maternal alloantibodies raised against fetal platelet antigens inherited from the paternal parent. In contrast to Caucasians, in Asians, predominantly in Japanese, most frequently detected antibodies in NAIT are anti-HPA-4b and anti-HPA-5b. In some NAIT cases multiple alloantibodies are detected. In such cases it is very difficult to determine which antibody is the dominant antibody in NAIT. In this case report, we describe a NAIT case (first sibling) with severe thrombocytopenia and cephalhematoma in the presence of both anti-HPA-4b and anti-HPA-5b antibodies in the maternal serum. We carefully examined titers of anti-HPA antibodies during the subsequent pregnancy with HPA-4b-positive and HPA-5b-negative fetus determined by amniocentesis at gestational week 16. We administered IVIG (1 g/kg/w) to the mother from gestational week 32 to 35. The mother subsequently delivered a second sibling with normal platelet count by cesarean section. Although we could not completely rule out the involvement of anti-HPA-4b, our findings suggested that anti-HPA-5b was implicated in the NAIT in the first sibling.

  16. Management of prenatally diagnosed congenital malformations--actual problems and the importance of an interdisciplinary team approach.

    Science.gov (United States)

    Stauffer, U G

    1986-01-01

    Today's methods of prenatal diagnosis, i.e., ultrasound, amniocentesis, and fetoscopy, allow for early recognition of abnormalities in the fetus. Trials of surgery on human fetuses are widely discussed in scientific as well as lay journals; they are accepted with enthusiasm by some and severely criticized as unethical by others. This report deals with the modern concepts of prenatal diagnosis and possible therapy in the light of current general social context. Some of the arising controversies and ethical problems are shown. The consequences of prenatal diagnosis of congenital malformations of the fetus are separately discussed with reference to the mother, the family, and society on one side and to the fetus itself on the other. The practical question of whether the fetus is already a person or not is seen against its historical, religious, and philosophical background. The necessity for an interdisciplinary team approach in dealing with mothers bearing malformed children--i.e., cooperation of obstetricians, pediatric surgeons, neonatologists, geneticians, neurologists, etc.--is stressed, and the contribution of the pediatric surgeon within this team is discussed in detail, with practical examples given. The present status of intrauterine therapy is summarized and critically evaluated. Finally, an example is given of the ideal team approach in a case of prenatally diagnosed congenital cystic adenomatoid malformation with a successful outcome and long-term survival.

  17. Glial cell line-derived neurotrophic factor induced the differentiation of amniotic fluid-derived stem cells into vascular endothelial-like cells in vitro.

    Science.gov (United States)

    Zhang, Ruyu; Lu, Ying; Li, Ju; Wang, Jia; Liu, Caixia; Gao, Fang; Sun, Dong

    2016-02-01

    Amniotic fluid-derived stem cells (AFSCs) are a novel source of stem cells that are isolated and cultured from second trimester amniocentesis. Glial cell line-derived neurotrophic factor (GDNF) acts as a tissue morphogen and regulates stem cell proliferation and differentiation. This study investigated the effect of an adenovirus-mediated GDNF gene, which was engineered into AFSCs, on the cells' biological properties and whether GDNF in combination with AFSCs can be directionally differentiated into vascular endothelial-like cells in vitro. AFSCs were isolated and cultured using the plastic adherence method in vitro and identified by the transcription factor Oct-4, which is the primary marker of pluripotent stem cells. AFSCs were efficiently transfected by a GFP-labeled plasmid system of an adenovirus vector carrying the GDNF gene (Ad-GDNF-GFP). Transfected AFSCs stably expressed GDNF. Transfected AFSCs were cultured in endothelial growth medium-2 containing vascular endothelial growth factor. After 1 week, AFSCs were positive for von Willebrand factor (vWF) and CD31, which are markers of endothelial cells, and the recombinant GDNF group was significantly higher than undifferentiated controls and the GFP only group. These results demonstrated that AFSCs differentiated into vascular endothelial-like cells in vitro, and recombinant GDNF promoted differentiation. The differentiation-induced AFSCs may be used as seed cells to provide a new manner of cell and gene therapies for transplantation into the vascular injury site to promote angiogenesis.

  18. Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

    Science.gov (United States)

    Li, Mindy H; Eberhard, Moriah; Mudd, Pamela; Javia, Luv; Zimmerman, Robert; Khalek, Nahla; Zackai, Elaine H

    2015-03-01

    Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome.

  19. Accuracy Assessment of Interphase Fluorescence In-Situ Hybridization on Uncultured Amniotic Fluid Cells

    Directory of Open Access Journals (Sweden)

    Hamideh Karimi

    2007-01-01

    Full Text Available Background: Parental anxiety while waiting for the results of amniocentesis has been investigatedby many authors. It seems that the implementation of faster techniques such as fluorescence in-situhybridization (FISH will have some benefits in reducing this anxiety. Besides the patients' attitudesto choosing this method, gynecologists who are the persons responsible for treatment, must feelcomfortable about prescribing FISH techniques.Materials and Methods: This study, using a simple methodology, was undertaken to evaluate theresults of FISH tests on the amniotic fluid from 40 pregnant women undergoing cesarean surgery.Two sets of probes including X/Y cocktail and 13, 21 and 18 were applied on different slides.Results: The results of FISH tests were compared with the reports of the pediatrician about thehealth condition of the newborn. Complete conformity between the two sets of findings, haveconvinced our gynecologists of the benefit of prescribing this method to reduce the anxiety ofpatients at risk of having abnormal offspring due to chromosomal anuploidies.Conclusion: As has been documented by many authors, conventional chromosome analysis hasgreat advantages over fluorescence in situ hybridization of interphase amniocytes, but reducing theanxiety of parents is a good reason for employing the FISH technique.

  20. Acid- and alkaline phosphatase in amniotic fluid in normal and complicated pregnancy.

    Science.gov (United States)

    Beckman, G; Beckman, L; Löfstrand, T

    1978-01-01

    171 samples of amniotic fluid were obtained by abdominal amniocentesis from 67 women with complicated pregnancies (isoimmunization, diabetes mellitus or toxaemia). The levels of heat-labile alkaline phosphatase (HLAP), heat-stable alkaline phosphatase (HSAP) and acid phosphatase (AcP) were determined and compared to the enzyme levels in 179 samples from women with normal pregnancies of corresponding gestational ages. HLAP showed two "peaks" of activity, one in the 5th-22nd week and the other at term. HSAP and AcP showed increased activity at term. HSAP was decreased (p less than 0.01) in isoimmunization between the 36th and 40th week. 11 cases of toxaemia with placental insufficiency showed no differences in the levels of HLAP and HSAP compared with normal pregnancy. AcP showed no differences between normal and complicated pregnancy. Samples contaminated by blood showed no significant increase in the acid- and alkaline phosphatase levels. Samples contaminated by meconium showed a complex pattern. Some samples had normal enzyme levels, some had high levels of HLAP only and some had high levels of HSAP and AcP. The origin of the enzymes is not known with certainty. HSAP in amniotic fluid is most likely not of placental but intestinal origin. Determinations of acid- and alkaline phosphatase in amniotic fluid seem to be of little values in the clinical management of complicated pregnancy.

  1. Screening of Fetal Chromosome Aneuploidies in the First and Second Trimester of 125,170 Iranian Pregnant Women

    Directory of Open Access Journals (Sweden)

    Elham SEYYED-KAVOOSI

    2015-10-01

    Full Text Available Background: Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in new-borns. The aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in Iran.Methods: A descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnostic laboratory (Niloo Laboratory, Tehran for prenatal screening tests (2010-2013. Patients were di-vided into 3 groups: first trimester screening (FTS, second trimester screening (STS, and combined screening groups. In positive and borderline cases, and amniocentesis and cytogenetic analysis were carried out.Results: Total prevalence of aneuploidy in 125,170 pregnant women was one in 491, (Detection Rate=82.7% for Down syndrome. The DR for DS in three groups was as follow: 87.5% for FTS (25783 women, 80.9% for STS (91345 women, and 94.7% for combined tests (8042 women. Total number of cases with Edward's syndrome was 18, Patau's syndrome six, Klinefelter syndrome six, triploidy three, and Cri-du-chat syndrome one.Conclusion: The present study shows the frequency of aneuploidy in the first and second trimester screenings in a major medical laboratory in Tehran. The prevalence of aneuploidies grows with increased maternal age. The rate of aneuploidy in first trimester is higher than second.

  2. Women's Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity.

    Science.gov (United States)

    Norton, Mary E; Nakagawa, Sanae; Kuppermann, Miriam

    2014-01-21

    Little is known about women's comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS), fragile X (FraX), cystic fibrosis (CF), spinal muscular atrophy (SMA), phenylketonuria (PKU) and congenital heart defects (CHD). Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA). Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD) versus those associated with intellectual disability (DS, FraX) and were most likely to terminate for SMA, typically lethal in childhood.

  3. Hemolytic disease of the newborn associated with anti-Jra alloimmunization in a twin pregnancy: the first case report in Korea.

    Science.gov (United States)

    Kim, Hyungsuk; Park, Min-Jeong; Sung, Tae-Jung; Choi, Ji Seon; Hyun, Jungwon; Park, Kyoung Un; Han, Kyou-Sup

    2010-10-01

    Jr(a) is a high-frequency antigen found in all ethnic groups. However, the clinical significance of the anti-Jr(a) antibody has remained controversial. Most studies have reported mild hemolytic disease of the newborn and fetus (HDNF) in Jr(a)-positive patients. Recently, fatal cases of HDNF have also been reported. We report the first case of HDNF caused by anti-Jr(a) alloimmunization in twins in Korea. A 33-yr-old nulliparous woman with no history of transfusion or amniocentesis was admitted at the 32nd week of gestation because of vaginal bleeding caused by placenta previa. Anti-Jr(a) antibodies were detected in a routine laboratory examination. An emergency cesarean section was performed at the 34th week of gestation, and 2 premature infant twins were delivered. Laboratory examination showed positive direct antiglobulin test and Jr(a+) phenotype in the red blood cells and the presence of anti-Jr(a) antibodies in the serum in both neonates. The infants underwent phototherapy for neonatal jaundice; this was followed by conservative management. They showed no further complications and were discharged on the 19th postpartum day. Preparative management to ensure the availability of Jr(a-) blood, via autologous donation, and close fetal monitoring must be performed even in cases of first pregnancy in Jr(a-) women.

  4. Fetal discourses and the politics of the womb.

    Science.gov (United States)

    Tan, Michael Lim

    2004-11-01

    Discourse on abortion rights inevitably centres on the fetus, and is often framed around the dichotomy of "pro-life" vs. "pro-choice" positions. This dichotomy is not, however, the only framework to discuss abortion; concerns about the fetus have found varied expression in theological, legal and medical constructs. This article examines discourses on the fetus from the Philippines, Iran and the United States, to show how complex they can be. It examines laws punishing abortion compared to laws punishing the murder of children, and also looks at the effects of ultrasound, amniocentesis and stem cell research on anti-abortion discourse. Although the fetus figures prominently in much legal discourse, it actually figures less prominently in popular discourse, at least in the English and Philippine languages, where terms like "child" and "baby" are used far more often. Finally, the article highlights the need to examine the experiences and narratives of women who have had abortions, and the implications for public policies and advocacy. It is important to expose the way anti-abortion groups manipulate popular culture and women's experience, driving home their messages through fear and guilt, and to show that pregnant women often decide on abortion in order to defend their family's right to survive.

  5. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  6. Antecedents to and outcomes of Rh(D) isoimmunization: Mater Mothers Hospital, Brisbane, 1988-1995.

    Science.gov (United States)

    Portmann, C; Ludlow, J; Joyce, A; Chan, F Y

    1997-02-01

    We analyzed the antecedents and outcomes of Rh(D) isoimmunization in a local population. Forty-two Rh(D) isoimmunized women attending Mater Mothers Hospital for antenatal care were identified through the Mater Hospital Blood Bank database; their records were reviewed for variables including sensitizing events, obstetric interventions and pregnancy outcomes. In this group, 74% of women became sensitized despite receiving anti-D immune globulin, 17% did not receive anti-D appropriately and the other failed to attend for treatment of bleeding in pregnancy. Antenatal sensitization was implicated in 6 women (14%) and potentially responsible for isoimmunization in another 18. Over half of the 80 viable pregnancies in this study group required some form of obstetric intervention. Thirty pregnancies required amniocentesis and 1 in 3 babies underwent either intrauterine or exchange transfusion. Three fetal deaths occurred as a result of severe disease. This study offers information highlighting circumstances in which immunoprophylaxis guidelines have failed to impart protection against Rh(D) sensitization and the consequences of such failures.

  7. [Diagnosis and therapy in fetuses at risk in Rh isoimmunization].

    Science.gov (United States)

    Calda, P; Zizka, Z; Rezábek, K; Masata, J; Bendl, J

    1993-12-01

    The objective of the work was to evaluate the importance of antenatal examination of amniotic fluid and foetal blood in case of suspected Rh isoimmunization of the foetus. In 1991-1992 in 16 patients with a rise of the titre of anti-D antibodies to > 1:8 between the 24th and 36th week of gestation 32 punctures of the umbilicus by means of a 22 gauge needle were made under continual ultrasonic control. In two instances intraumbilical transfusion was indicated. The authors revealed that with the rising titre of anti-D antibodies in maternal blood the foetal haematocrit value in the umbilical blood declines. With the rising bilirubin level the haematocrit declines. In foetuses with a haematocrit of < 31% severe forms of jaundice are encountered more frequently with the necessity of long-term phototherapy and exchange transfusion. The authors did not find a correlation between the haematocrit of foetal blood and the bilirubinoid concentration in amniotic fluid, assessed by Liley's method. Foetuses with a haematocrit higher than 31% are not threatened by severe forms of jaundice and therefore the authors do not use transfusions in these foetuses. Based on hitherto assembled experience, the authors confirmed that cordocentesis is associated with a comparable risk as amniocentesis but provides more accurate information on the state of the foetus.

  8. [Toxoplasmosis in pregnancy. Prevention, diagnosis, and therapy].

    Science.gov (United States)

    Russo, M

    1994-01-01

    Toxoplasmosis is a worldwide health problem. Infection of a pregnant woman can result in severe fetal morbidity or in subclinical neonatal infection; most subclinical cases will develop ocular and neurological sequelae. Fetal infection and clinical outcome is related to when in pregnancy toxoplasmosis was acquired. The risk of transmission increases from 14% in the first trimester to 29% in the second and 59% in the third. Conversely, clinical damage decreases from about 80% in the first to 10% in the third trimester, but up to 50% of patients with subclinical congenital toxoplasmosis will develop neurologic and ocular sequelae. Congenital toxoplasmosis can be prevented by identification of non immune women at the beginning of pregnancy, by giving information on how to avoid the infection and by a serological follow-up until the delivery. Serological follow-up is based on repeated testing for specific IgG and IgM, but other serologic methods are necessary to differentiate between acute and chronic infections and possibly on a single serum sample. Procedures to detect fetal infection are ultrasound examination, cordocentesis and amniocentesis; prenatal diagnosis relies on demonstration of toxoplasma in fetal blood or amniotic fluid by mouse inoculation. Very promising results have recently obtained by the PCR-method applied to amniotic fluid samples. All strongly suspected cases of acquired toxoplasmosis in pregnancy have to be treated.

  9. Treatment of toxoplasmosis in pregnancy: concentrations of spiramycin and neospiramycin in maternal serum and amniotic fluid.

    Science.gov (United States)

    Gratzl, R; Sodeck, G; Platzer, P; Jäger, W; Graf, J; Pollak, A; Thalhammer, T

    2002-01-01

    Toxoplasma infection during pregnancy is widely treated with oral spiramycin to reduce the risk of congenital toxoplasmosis in the infant. Failures of therapy have been observed, however. In this study, a sensitive high-performance liquid chromatography technique was used to measure concentrations of spiramycin and neospiramycin, one of the major metabolites of spiramycin, in maternal serum and amniotic fluid. Samples were obtained from 18 women who underwent amniocentesis for polymerase chain reaction (PCR) diagnosis of fetal infection 5-109 days following the prescription of spiramycin therapy (3 g/day). Concentrations of spiramycin and neospiramycin in both serum and amniotic fluid were highly variable, ranging from nondetectable values to 1 microg/ml. None of the concentrations measured were within the range reported to inhibit growth of the parasite in vitro. Consistent with previous reports, part of the observed variability in maternal and fetal drug concentrations could be explained by individual differences in several pharmacokinetic parameters: intestinal absorption, tissue distribution, cellular uptake, metabolism, transfer across the placenta, drug accumulation in fetal tissue, and maternal and fetal drug elimination. The heterogeneity of the data could also be related to differences in patient compliance with the medication prescribed. By addressing factors that could impair adequate treatment of toxoplasmosis during pregnancy, the data presented call for a larger-scale controlled study to determine individual and diurnal variations in maternal drug levels, patient compliance, and outcomes of the offspring. The activity of neospiramycin against Toxoplasma gondii should be assessed.

  10. Fabricating a face: the essence of embryology in the dental curriculum.

    Science.gov (United States)

    Sperber, G H

    2003-03-01

    The current explosive growth in developmental biology, fuelled by the almost completed sequencing of the human genome, is bound to have a profound impact upon the practice of medicine and dentistry in the twenty-first century. No other discipline more accurately reflects this impact than embryology, which combines the basic and clinical sciences of genetics, ontogeny, phylogeny, teratology, and syndromology into the essence of modern medical and dental practice. The advent of in vitro fertilization, chorionic villus sampling, amniocentesis, prenatal ultrasonography, intrauterine surgery, and stem cell therapy has vaulted the previously esoteric subject of embryology into clinical consciousness. All these aforementioned procedures require an intimate knowledge of the different stages of development. The alphabet soup of acronyms that now peppers papers proclaiming the genetics and characteristics of various growth factors and cytokines (e.g., FGF, TGFalpha) are all based upon an understanding of the developmental mechanisms occurring in the embryo and subsequently in wound healing and oncology. Congenital abnormalities ranging from lethal syndromes to dental malocclusions cannot be diagnosed, treated, cured, or prognosticated upon without a sound conceptualization of embryology. Computer technology has revolutionized the understanding and teaching of embryology by portraying developmental phenomena as three-dimensional model images in sequential depictions of changes proceeding in the fourth dimension of time. Embryology must now form the essential core of the basic sciences in medical and dental curricula. Future dental practice will become rooted in the genetics and morphogenesis of facial fabrication.

  11. Amniotic fluid as a source of multipotent cells for clinical use.

    Science.gov (United States)

    Young, Bruce K; Chan, Michael K; Liu, Li; Basch, Ross S

    2016-04-01

    Amniotic fluid cells (AFC) from 2nd trimester amniocentesis have been found to be a source of multipotent stem cells which might overcome the limitations of expansion, histocompatibility, tumorigenesis, and ethical issues associated with using human embryonic cells, umbilical cord, cord blood, bone marrow, and induced pluripotent cells. Previous work by our group and others demonstrated multipotency and the ability to grow well in culture. However, all these studies were done in media containing fetal calf serum. We sought to observe the properties of AFC grown in serum-free media as that would be required for clinical transplantation in humans. Fresh samples were obtained from three patients, and each sample divided into a culture whose cells were not exposed to fetal calf serum, and the other half into a standard culture medium containing fetal calf serum. Doubling time and stem cell marker expression by flow cytometry were assessed. Differentiation to neural, osteoid, and chondrogenic lineages was induced using appropriate media and confirmed by fluorescent microscopy, histology, and immunohistochemistry. There were no statistically significant differences between cells grown serum-free and in standard media in any of these parameters. The data supports the possibility of clinical use of AFC in stem cell transplantation.

  12. Evidence mounts for sex-selective abortion in Asia.

    Science.gov (United States)

    Westley, S B

    1995-01-01

    In Korea, China, and Taiwan--countries where son preference persists--the availability of prenatal screening techniques and induced abortion has produced an imbalance in the naturally occurring sex ratios of 104-107 male births for every 100 female births. Policy responses to sex-selective abortion were the focus of a 1994 International Symposium on Sex Preference for Children in the Rapidly Changing Demographic Dynamics in Asia sponsored by the United Nations Population Fund and the Government of the Republic of Korea. Modern technology (i.e., amniocentesis, ultrasound, and chorionic villi sampling) enables couples to control both family size and sex selection. According to data from the 1990 Korean Census, 80,000 female fetuses were aborted from 1986-90 as a result of son preference. In the late 1980s, the Governments of Korea, China, and India imposed bans on the use of medical technology for prenatal sex determination, but many observers maintain that regulations have served only to make the procedures clandestine and more expensive. To remedy the problems underlying sex-selective abortion, the Symposium recommended the following government actions: 1) implement policies and programs to diminish gender discrimination; 2) establish guidelines for the monitoring and regulation of prenatal testing; 3) utilize mass and folk media, interpersonal channels, and school curricula to promote gender equality; 4) strengthen the ethics curriculum of medical schools to address son preference; and 5) increase the capability of statistical and research organizations to collect gender-disaggregated data.

  13. Phenotypic consequences of a novel SCO2 gene mutation.

    Science.gov (United States)

    Verdijk, Rob M; de Krijger, Ronald; Schoonderwoerd, Kees; Tiranti, Valeria; Smeets, Hubert; Govaerts, Lutgarde C P; de Coo, René

    2008-11-01

    SCO2 is a cytochrome c oxidase (COX) assembly gene. Mutations in the SCO2 gene have been associated with fatal infantile cardioencephalomyopathy. We report on the phenotype of a novel SCO2 mutation in two siblings with fatal infantile cardioencephalomyopathy. The index patient died of heart failure at 25 days of age. Muscle biopsy was performed for histology and biochemical study of the oxidative phosphorylation system complexes. The entire coding region of the SCO2 gene was sequenced. Autopsy was performed on the index patient and on a female sibling delivered at 23 weeks of gestation following termination of pregnancy during which amniocentesis and genetic testing had been performed. Muscle biopsy and biochemical analysis of heart and skeletal muscle detected a severe isolated COX-IV deficiency. Pathologic findings in both patients confirmed hypertrophic cardiomyopathy. Sequencing of the SCO2 gene showed compound heterozygous mutation; the common E140K mutation and a novel W36X nonsense mutation. Newborns with a combination of hypotonia and cardiomyopathy should be evaluated for multiple congenital anomaly syndromes, inborn errors of metabolism and mitochondrial derangements, and may require extensive diagnostic testing. Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy.

  14. Data on clinical significance of second trimester inflammatory biomarkers in the amniotic fluid in predicting preterm delivery.

    Science.gov (United States)

    Kesrouani, Assaad; Chalhoub, Elie; El Rassy, Elie; Germanos, Mirna; Khazzaka, Aline; Rizkallah, Jamale; Attieh, Elie; Aouad, Norma

    2016-12-01

    In this article second trimester amniotic fluid biomarkers are measured for correlation with preterm delivery. One additional milliliter of amniotic fluid is collected during amniocentesis for dosages of IL-6, MMP-9, CRP and glucose levels, along with maternal serum CRP and glucose. MMP-9 and Il-6 levels were measured with the corresponding Human Quantikine(R) ELISA Kit (R&D systems) according to the instructions provided by the manufacturer. Cut-off values for AF MMP-9 and IL-6 were fixed by the kit sensitivity thresholds. Data includes ROC curves for glucose (Fig. 1), IL-6 (Fig. 2) and MMP-9 (Fig. 3), aiming to search for sensitivity and specificity in the prediction of premature delivery. Statistical analyses are performed with SPSS v20.0 software. Statistical significance is determined using the Mann-Whitney and one way ANOVA test. The association with preterm delivery is performed using a two proportions test. Correlations are measured using the Pearson׳'s coefficient. A p valueamniotic fluid" (A. Kesrouani, E. Chalhoub, E. El Rassy, M. Germanos, A. Khazzaka, J. Rizkallah, E. Attieh, N. Aouad, 2016) [1].

  15. Concentrations of Mineral in Amniotic Fluid and Their Relations to Selected Maternal and Fetal Parameters.

    Science.gov (United States)

    Suliburska, J; Kocyłowski, R; Komorowicz, I; Grzesiak, M; Bogdański, P; Barałkiewicz, D

    2016-07-01

    The concentrations of various trace elements in amniotic fluid (AF) change over the course of pregnancy, with gestational age and fetus growth. The aim of the present study was to evaluate the concentrations of selected essential and toxic elements in AF and their relations to maternal and fetal parameters. The study was carried out in 39 pregnant women, aged 34.6 ± 4.7 years, between weeks 16 and 26 of gestation. Amniotic fluid samples were obtained during the standard procedure of amniocentesis in high-risk patients for chromosomal abnormalities. An inductively coupled plasma mass spectrometry (ICP-MS) technique was used to determine the levels of Al, As, Ba, Cd, Co, Cr, Cu, Mg, Mn, Ni, Sr, U, and V in AF. Body mass and blood pressure were measured in all the women. The basic parameters of fetal development were also assayed. It was found that the age of the mother, the gender of the fetus, and the week of the pregnancy may affect the concentrations of mineral in the amniotic fluid. Moreover, several significant correlations between the essential and toxic elements and maternal and fetal parameters were observed. In particular, negative and positive correlations between fetal parameters and magnesium and copper levels in AF, respectively, were seen. The present findings demonstrate the association between minerals in AF and fetal development.

  16. Primer-introduced restriction analysis polymerase chain reaction method for non-invasive prenatal testing of β-thalassemia.

    Science.gov (United States)

    Liu, Saijun; Chen, Liyuan; Zhang, Xiandong; Li, Jian; Lin, Haiying; Liu, Louhui; Xie, Jiansheng; Ge, Huijuan; Ye, Minglan; Chen, Caifen; Ji, Xingwen; Zhang, Caifen; Xu, Fengping; Jiang, Hui; Zhen, Hefu; Chen, Shiping; Wang, Wei

    2015-01-01

    We have developed a new method for non-invasive prenatal testing (NIPT) of paternally inherited fetal mutants for β-thalassemia (β-thal). Specially designed primer-introduced restriction analysis-polymerase chain reaction (PIRA-PCR) were used to detect four major mutations [IVS-II-654, HBB: c.316-197C > T; codon 17 (A > T), HBB: c.52A > T; -28 (A > G), HBB: c.-78A > G and codons 41/42 (-TTCT), HBB: c.126_129delCTTT] causing β-thal in China. The PIRA-PCR assay was first tested in a series of mixed DNA with different concentrations and mixed proportions. Subsequently, this assay was further tested in 10 plasma DNA samples collected from pregnant women. In the DNA mixture simulation test, the PIRA-PCR assay was able to detect 3.0% target genomic DNA (gDNA) mixed in 97.0% wild-type gDNA isolated from whole blood. For plasma DNA testing, the results detected by PIRA-PCR assay achieved 100.0% consistency with those obtained from the amniocentesis analysis. This new method could potentially be used for NIPT of paternally inherited fetal mutants for β-thal.

  17. Amniotic fluid derived stem cells give rise to neuron-like cells without a further differentiation potential into retina-like cells.

    Science.gov (United States)

    Hartmann, K; Raabe, O; Wenisch, S; Arnhold, S

    2013-01-01

    Amniotic fluid contains heterogeneous cell types and has become an interesting source for obtaining fetal stem cells. These stem cells have a high proliferative capacity and a good differentiation potential and may thus be suitable for regenerative medicine. As there is increasing evidence, that these stem cells are also able to be directed into the neural lineage, in our study we investigated the neuronal and glial differentiation potential of these cells, so that they may also be applied to cure degenerative diseases of the retina. Mesenchymal stem cells were isolated from routine prenatal amniocentesis at 15 to 18 weeks of pregnancy of human amniotic fluid and expanded in the cell culture. Cells were cultivated according to standard procedures for mesenchymal stem cells and were differentiated along the neural lineage using various protocols. Furthermore, it was also tried to direct them into cell types of the retina as well as into endothelial cells. Cells of more than 72 amniotic fluid samples were collected and characterized. While after induction neural-like phenotypes could actually be detected, which was confirmed using neural marker proteins such as GFAP and ßIII tubulina further differentiation into retinal like cells could not reliably be shown. These data suggest that amniotic fluid derived cells are an interesting cell source, which may also give rise to neural-like cells. However, a more specific differentiation into neuronal and glial cells could not unequivocally be shown, so that further investigations have to becarried out.

  18. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  19. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    Science.gov (United States)

    Ke, Hai-Ping; Jiang, Hu-Ling; Lv, Ya-Su; Huang, Yi-Zhou; Liu, Rong-Rong; Chen, Xiao-Ling; Du, Zhen-Fang; Luo, Yu-Qin; Xu, Chen-Ming; Fan, Qi-Hui; Zhang, Xian-Ning

    2014-08-01

    Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.

  20. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  1. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings.

    Science.gov (United States)

    Pan, Qiong; Sun, Baojuan; Huang, Xiaoli; Jing, Xin; Liu, Hailiang; Jiang, Fuman; Zhou, Jie; Lin, Mengmeng; Yue, Hongni; Hu, Ping; Ning, Ying

    2014-01-01

    At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

  2. Cell free fetal DNA testing in maternal blood of Romanian pregnant women

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    Viorica E Radoi

    2015-10-01

    Full Text Available Background: The discovery of circulating fetal DNA in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. Objective: The purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y by analysis of fetal cell-free DNA from maternal blood, without endangering pregnancy. Materials and Methods: This retrospective study has been performed in Bucharest at Medlife Maternal and Fetal Medicine Department between 2013-2014. In total 201 women were offered noninvasive prenatal test. Maternal plasma samples were collected from women at greater than 9 weeks of gestation after informed consent and genetics counseling. Results: From 201 patients; 28 (13.93% had screening test with high risk for trisomy 21, 116 (57.71% had advanced maternal age, 1 (0.49% had second trimester ultrasound markers and the remaining 56 patients (27.86% performed the test on request. Of those patients, 189 (94.02% had a “low risk” result (99% risk all for trisomy 21 (T21. T21 was confirmed by amniocentesis in 1 patient and the other 4 patients declined confirmation. The 7 remaining patients (3.48% had a low fetal fraction of DNA. Conclusion: It is probably that prenatal diagnosis using fetal DNA in maternal blood would play an increasingly role in the future practice of prenatal testing because of high accuracy.

  3. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    Science.gov (United States)

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  4. Antepartum findings and obstetric aspects in pregnancies followed by neonatal persistent hyperinsulinemic hypoglycemia.

    Science.gov (United States)

    Parviainen, Anna-Maria; Puolakka, Jukka; Kirkinen, Pertti

    2002-04-01

    In this study we report antepartum and obstetric findings in cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The study is retrospective and covers the years 1983 to 1994, when there were 9 infants treated for PHHI in the region of the University Hospital of Kuopio. One of the mothers had gestational diabetes mellitus and one had insulin-dependent diabetes mellitus (IDDM). There were signs of fetal distress in cardiotocography (CTG) in 3 of 9 cases prenatally and in 3 of 9 cases intrapartum (33%). There were 5 premature deliveries (56%) and 5 cesarean sections (56%) in this series. Five neonates (56%) were macrosomic and one delivery was complicated by shoulder dystocia. Three neonates (33%) had a 1-minute Apgar score of <6, but there were no cases at 5 minutes. In cases of fetal macrosomia without a maternal diabetic problem amniocentesis may be carried out after 34 weeks of gestation to assay amniotic fluid insulin, C-peptide and erythropoietin to reveal rare cases of PHHI where there may be problems of fetal hypoxemia similar to those in diabetic pregnancies.

  5. "People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain.

    Science.gov (United States)

    Gordon, Cynthia; Prince, Michele B; Benkendorf, Judith L; Hamilton, Heidi E

    2002-08-01

    Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor-client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.

  6. From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan.

    Science.gov (United States)

    Shaw, S W Steven; Chen, Chih-Ping; Cheng, Po-Jen

    2013-12-01

    Down syndrome is the most common autosomal chromosome aneuploidy. The prenatal Down syndrome screening protocol has been known in Taiwan for the past 20 years. The maternal serum double markers required for the screening test was first implemented into the general prenatal check-up back in 1994, where it had around a 60% detection rate at a 5% false positive rate. The first trimester combined test was started in 2005, and the maternal serum quadruple test was introduced in 2008 to replace the previous double test. The overall detection rate for the current screening strategies (first trimester combined or second trimester quadruple test) in Taiwan ranges between 80% and 85% at a fixed 5% false positive rate. Noninvasive prenatal testing (NIPT) is the latest powerful fetal aneuploidy detection method and has become commercially available in Taiwan starting from 2013. The sensitivity and specificity for NIPT are very high (both over 99%) according to large worldwide studies. Our preliminary data for NIPT from 11 medical centers in Taiwan have also shown a 100% detection rate for Down syndrome and Edwards syndrome, respectively. Invasive chromosome studies such as amniocentesis or chorionic villus sampling cannot be replaced by NIPT, and all prenatal screening and NIPT results require confirmation using invasive testing. This review discusses the Down syndrome screening method assessments and the progress of NIPT in Taiwan.

  7. Evaluation of Fetal Lung Ultrasound Images by Digital Texture Analysis Methods

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    Ümmu Yildiz

    2016-01-01

    Full Text Available Aim: Evaluation of fetal lung maturity in preterm pregnancies without requirement for an invasive procedure such as amniocentesis is of importance. The aim of the present study was to extract numerical features from fetal pulmonary ultrasound images, using computerized texture analysis methods. Material and Method: Twenty fetal ultrasound images from 18 pregnancies that were followed up in our department for threatened preterm delivery between 24-37 weeks of gestational age were included before corticosteroid administration. Transverse sections including well-defined visualization of bilateral fetal lungs without artifacts were evaluated. Regions of interests (ROIs with a 64x64 pixel area and homogenous pulmonary tissue were selected. Images were analyzed with invariant moments (IM, grey level co-occurrence matrix (GLCM, and wavelet analysis (WA using MATLAB R2014a computer software. Results: The mean gestational age was 30.9 ± 3.2 weeks. A total of 159 features were extracted from the ROIs of each image. Therefore, fetal ultrasound images were coded into numerical values, using advanced texture analysis techniques. Discussion: Assessment of ultrasound images from fetal lungs at different gestational ages was feasible with the introduced digital tissue analysis algorithm. Non-invasive evaluation of fetal lung maturity will subsequently be investigated in line with the defined procedure.

  8. A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature

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    Linda Maria Azzurra Pirollo

    2015-01-01

    Full Text Available Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.

  9. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  10. The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.

    Science.gov (United States)

    Santesmases, María Jesús

    2014-09-01

    Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s.

  11. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal].

    Science.gov (United States)

    Holzgreve, W; Troeger, C; Schatt, S; Vial, Y; Louwen, F; Gloning, K; Hahn, S

    1998-10-24

    Currently prenatal diagnosis relies on invasive procedures such as chorion villus sampling (CVS) or amniocentesis (AC). Many parents are reluctant to expose themselves and their child to the small, but significant risk posed by these procedures to mother and child. There is, hence, a great need for a risk-free non-invasive alternative. To achieve this goal most research has been focussed on enriching fetal cells from the blood of pregnant women. The erythroblast has emerged as the target cell of choice, since it is abundant in the early fetus, rare in normal adult blood, and since it has a very short half life, there is no risk of obtaining cells from previous pregnancies. Most enrichment protocols rely either on magnetic- or fluorescent activated cell sorting (MACS and FACS) using fetal specific antibodies. These enriched cells can be examined by FISH (fluorescence in-situ hybridisation) for the presence of the most common fetal chromosomal aneuploidies (13, 18, 21, X and Y) or by polymerase chain reaction (PCR) on singly manipulated cells for genetic disorders. The efficacy in detecting fetal aneuploidies is currently being evaluated in a phase II clinical trial under the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our group is a participant. By modifying our enrichment protocols we have recently been able to obtain detection sensitivities of almost 80%, thereby renewing our optimism that this methodology provides a solid basis for an effective non-invasive prenatal diagnostic test.

  12. Reproductive decisions after fetal genetic counselling.

    Science.gov (United States)

    Pergament, Eugene; Pergament, Deborah

    2012-10-01

    A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and after fetal genetic counselling represent the culmination of a dynamic interaction between prospective parents, obstetrician and genetic counsellor. The decision to undergo genetic testing before and after genetic counselling is influenced by a host of interrelated factors, including patient-partner and family relationships, patient-physician communication, societal mores, religious beliefs, and the media. Because of the complexity of personal and societal factors involved, it is not surprising that genetic counselling concerning reproductive decision-making must be individualised. A limited number of principles, guidelines and standards apply when counselling about testing for fetal genetic disease. These principles are that genetic counselling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice. A critical responsibility of the obstetrician and genetic counsellor is to provide accurate and objective information about the implications, advantages, disadvantages and consequences of any genetic testing applied to prospective parents and their fetuses. These principles and responsibilities will be tested as newer technologies, such as array comparative genome hybridisation, non-invasive prenatal diagnosis and sequencing of the entire genome are introduced into the field of reproductive genetics and become routine practice.

  13. Influence of Second-Trimester Ultrasound Markers for Down Syndrome in Pregnant Women of Advanced Maternal Age

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    Mariza Rumi Kataguiri

    2014-01-01

    Full Text Available The objective of the present study was to evaluate the influence of second-trimester ultrasound markers on the incidence of Down syndrome among pregnant women of advanced maternal age. This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. To investigate differences between the groups with and without markers, nonparametric tests consisting of the chi-square test or Fisher’s exact test were used. Moreover, odds ratios with their respective 95% confidence intervals were calculated. Out of the 889 pregnant women, 131 (17.3% presented markers and 758 (82.7% did not present markers on the second-trimester ultrasound. Increased nuchal fold (P<0.001 and structural malformation (P<0.001 were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold. The presence of markers on the second-trimester ultrasound, especially thickened nuchal fold and structural malformation, increased the risk of Down syndrome among pregnant women with advanced maternal age.

  14. Liveborn with both partial trisomy of 3q and partial monosomy of 9p

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    Farren-Chavez, D.M.; Guzman, E.R. [UMDNJ-Robert Wood Johnson Medical School and St. Peter`s Medical Center, New Brunswich, NJ (United States); Peters, T.L. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    A 32-year-old G{sub 3}P{sub 2002} Hispanic female presented at 14 weeks gestation for routine dating ultrasound. At that time ultrasonography revealed a septated cystic hygroma, omphalocele, bilateral talipes equinovarus, and hydrops. Amniocentesis was performed at 15 weeks and revealed a 46,XX,9p+ chromosome complement. The origin of the extra material on the terminal short arm of chromosome 9 could not be identified. Chromosome analysis was performed on the parents and the mother was found to carry the balanced translocation 46,XX,p(3;9)(q23;p13). Further analysis revealed that the fetus had inherited the derivative 9 chromosome. The fetus was therefore monosomic for 9p13-9pter and trisomic for 3q23-3pter. The patient chose to continue the pregnancy. Serial ultrasonography later demonstrated a sloping forehead, small nose, micrognathia, ventriculomegaly, possible VSD, micropenis, hypospadias, cryptorchidism and post-axial polydactyly of the hands. The fetus was delivered prematurely at 31 weeks and survived one hour. Post-mortem examination confirmed the ultrasound findings and revealed additional stigmata consistent with both 9p monosomy and 3q trisomy. A review of the literature indicates no previous report of both syndromes concurrently.

  15. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

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    Haidar, Hazar

    2016-02-01

    Full Text Available Non-invasive prenatal testing (NIPT using cell-free fetal DNA (cffDNA from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI. This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended and as a diagnostic test (potentially in the future, has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

  16. Margareta Mikkelsen.

    Science.gov (United States)

    Miao, Jinmin

    2003-07-01

    Margareta Mikkelsen, a well-known Danish cytogeneticist, started to research autosome aberrations in 1959 and built the first chromosome laboratory at the University of Copenhagen with Anders Frøland. In 1968, she developed a fully functional chromosome laboratory from scratch at the John F. Kennedy Institute (JFKI). Not only the laboratory performed diagnoses all over Denmark, but also it is a sole place among all the departments of human genetics to train Danes to be clinical geneticists. A generation of Danish geneticists grew up under Dr. Mikkelsen's wing. Dr. Mikkelsen played a pioneering role in research on Down syndrome (DS) and exploring the source of the extra chromosome 21 remains her main interest. She performed the first case of prenatal diagnosis by amniocentesis in Denmark and since then, she was active in this field. The JFKI also committed to research on the fragile X syndrome. Dr. Mikkelsen took on many public responsibilities in Denmark and in Europe. She was on the board of many Danish scientific organizations and an active member of the European Society of Human Genetics (ESHG). She was efficient in public education with communication in lay language. After her retirement, she was more dynamic in medical ethics. Born as Irmtraud Wieser in Munich, Dr. Mikkelsen walked through the hardship of pre-war Germany, the inferno of the World War II, the trauma brought by her two husbands' alienation, the obstacles in work, and physical ailment to fulfill her unwavering commitment to human genetics.

  17. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  18. Care of critically ill newborns in India. Legal and ethical issues.

    Science.gov (United States)

    Subramanian, K N; Paul, V K

    1995-06-01

    The nature of neonatal care in India is changing. While the quality of care will most likely improve as the economy grows, the eventual scope of change remains to be seen. Attitudinal and behavioral changes, in addition to better economic conditions, are needed to realize more appropriate interventions in neonatal care. Economic, cultural, religious, social, political, and other considerations may limit or affect neonatal care, especially for ELBW infants or infants with congenital malformations or brain injury. Various protections for critically ill newborns exist under Indian law and the Constitution of India. New laws are being enacted to enhance the level of protection conferred, including laws which ban amniocentesis for sex determination and define brain death in connection with the use of human organs for therapeutic purposes. The applicability of consumer protection laws to medical care is also being addressed. It is noted, however, that India lacks a multidisciplinary bioethics committee. An effort should be made to discuss the legal and ethical issues regarding the care of critically ill newborns, with discussions considering religious, cultural, traditional, and family values. Legal and ethical guidelines should be developed by institutions, medical councils, and society specific to newborn care, and medical, nursing, and other paramedical schools should include these issues as part of the required coursework. Physicians, nurses, philosophers, and attorneys with expertise in law and ethics should develop and teach these courses. Such measures over the long term will ensure that future health care providers are exposed to these issues, ideally with a view toward enhancing patient care.

  19. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

    Science.gov (United States)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B M; Cornel, Martina C; Sistermans, Erik A

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA.

  20. Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria.

    Science.gov (United States)

    Niederwieser, A; Shintaku, H; Hasler, T; Curtius, H C; Lehmann, H; Guardamagna, O; Schmidt, H

    1986-08-01

    Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with "dihydrobiopterin synthetase" (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneopterin triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes, Sepiapterin reductase activities wer normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible.

  1. Aneuploidy among prenatally detected neural tube defects

    Energy Technology Data Exchange (ETDEWEB)

    Hume, R.F. Jr.; Lampinen, J.; Martin, L.S.; Johnson, M.P.; Evans, M.I. [Wayne State Univ., Detroit, MI (United States)] [and others

    1996-01-11

    We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; on anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 21 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling. 5 refs., 2 tabs.

  2. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage Syndrome by the assay of radioresistant DNA synthesis

    Energy Technology Data Exchange (ETDEWEB)

    Kleijer, W.J.; Kraan, M. van der; Los, F.J. [Erasmus Univ., Rotterdam (Netherlands). Dept. of Clinical Genetics; Jaspers, N.G.J. [Erasmus Univ., Rotterdam (Netherlands). Lab. of Cell Biology and Genetics

    1994-12-01

    Prenatal diagnosis was performed in 16 pregnancies at risk of ataxia-telangiectasia (A-T) or Nijmegen Breakage Syndrome (NBS). Radioresistant DNA synthesis (RDS) was investigated in cultured chorionic villus (CV) cells and/or amniotic fluid (AF) cells. In four pregnancies, an affected foetus was diagnosed with increased RDS in cultured CV cells. In three of the four cases confirmation of the diagnosis was obtained by analysis of AF cells and/or skin fibroblasts from the foetus cultured after termination of the pregnancy; in the fourth case a fibroblast culture from the aborted foetus failed. In one case, only AF cells could be analysed in a late stage of pregnancy; pregnancy was terminated due to intermediate/equivocal results but the foetus fibroblasts showed normal RDS. Normal RDS was demonstrated in the other 11 pregnancies at 25% risk either by analysis of CB cells (nine cases) or of AF cells (two cases). In some cases the (normal) results on the CV cells were corroborated by subsequent analysis of Af cells. The results suggest that RDS analysis of CV cells allows reliable prenatal diagnosis of A-T/NBS. However, amniocentesis may be necessary to confirm normal results on CV cells if the foetus is female (because of the risk of maternal cell contamination) or in the rare case of equivocal results. (author).

  3. Antenatal Bartter Syndrome: A Review

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    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  4. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

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    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

  5. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

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    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  6. Efficient and reproducible generation of high-expressing, stable human cell lines without need for antibiotic selection

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    Kewes Helmut

    2008-02-01

    Full Text Available Abstract Background Human cell lines are the most innovative choice of host cell for production of biopharmaceuticals since they allow for authentic posttranslational modification of therapeutic proteins. We present a new method for generating high and stable protein expressing cell lines based on human amniocytes without the requirement of antibiotic selection. Results Primary amniocytes from routine amniocentesis samples can be efficiently transformed with adenoviral functions resulting in stable human cell lines. Cotransfection of the primary human amniocytes with a plasmid expressing adenoviral E1 functions plus a second plasmid containing a gene of interest resulted in permanent cell lines expressing up to 30 pg/cell/day of a fully glycosylated and sialylated protein. Expression of the gene of interest is very stable for more than 90 passages and, importantly, was achieved in the absence of any antibiotic selection. Conclusion We describe an improved method for developing high protein expressing stable human cell lines. These cell lines are of non-tumor origin, they are immortalized by a function not oncogenic in human and they are from an ethically accepted and easily accessible cell source. Since the cell can be easily adapted to growth in serum-free and chemically defined medium they fulfill the requirements of biopharmaceutical production processes.

  7. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

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    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  8. Changes of Nerve Growth Factor in Amniotic Fluid and Correlation with Ventriculomegaly

    Institute of Scientific and Technical Information of China (English)

    Xiao-yan Xia; Xing-hua Huang; Yi-xin Xia; Wei-hua Zhang

    2011-01-01

    Objective To detect the change of nerve growth iactor (NGF) level in human amniotic fluid during gestation, and to explore the relationship between this change and fetal ventriculomegaly (VM). Methods The studied subjects (collected from 2004 to 2007) were divided into four groups, including the second-trimester pregnancy group (n=113), third-trimester pregnancy group (n= 110), fetal cerebral VM group (n= 12), and health), control group (n= 12) which matched with the VM group in gestational weeks. The amniotic fluid specimens were obtained during amniocentesis or cesarean section. The NGF levels in amniotic fluid were detected with enzyme-linked immunosorbent assay.Results A significantly negative correlation was found between gestational age and the NGF level in amniotic fluid (r=-0.6149, P<0.0001). The NGF level in patients with fetal VM was significantly lower than that in healthy controls (33.95+29.24 pg/mL vs. 64.73+ 16.21 pg/mL, P=0.024). Conclusion NGF levels in amniotic fluid may be a sensitive marker for fetal VM.

  9. Accuracy Assessment of Interphase Fluorescence In-Situ Hybridization on Uncultured Amniotic Fluid Cells

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    Hamid Gourabi

    2008-01-01

    Full Text Available Background: Parental anxiety while waiting for the results of amniocentesis has been investigatedby many authors. It seems that the implementation of faster techniques such as fluorescence in-situhybridization (FISH will have some benefits in reducing this anxiety. Besides the patients' attitudesto choosing this method, gynecologists who are the persons responsible for treatment, must feelcomfortable about prescribing FISH techniques.Materials and Methods: This study, using a simple methodology, was undertaken to evaluate theresults of FISH tests on the amniotic fluid from 40 pregnant women undergoing cesarean surgery.Two sets of probes including X/Y cocktail and 13, 21 and 18 were applied on different slides.Results: The results of FISH tests were compared with the reports of the pediatrician about thehealth condition of the newborn. Complete conformity between the two sets of findings, haveconvinced our gynecologists of the benefit of prescribing this method to reduce the anxiety ofpatients at risk of having abnormal offspring due to chromosomal anuploidies.Conclusion: As has been documented by many authors, conventional chromosome analysis hasgreat advantages over fluorescence in situ hybridization of interphase amniocytes, but reducing theanxiety of parents is a good reason for employing the FISH technique.

  10. 86例妊娠晚期羊水过多患者产前产后护理

    Institute of Scientific and Technical Information of China (English)

    吴鸿雁

    2014-01-01

    The paper introduce the nursing care of 86 patiens with the maternal polyhydramnios in Late pregnancy.The key points in antenatal nursing antenatal care include:phychological support,the holistic nursing care and fetal monitoring and amniocentesis care;postoperative care include phychological support、the prevention of postpartum hemorrhage and neonatal care to prevent complications.All the patiens were discharged with improvement.%总结了86例妊娠晚期羊水过多的产妇患者的护理体会。护理要点为产前给予心理护理、整体护理及胎儿宫内监护、羊膜穿刺的护理、人工破膜的护理;术后护理包括心理护理、预防产后出血及新生儿护理,预防并发症的发生,本组均好转出院。

  11. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

    Science.gov (United States)

    Chen, Yi-Yao; Li, Shu-Yuan; Zhang, Lan-Lan; Shen, Ying-Hua; Chang, Chun-Xin; Xiang, Yu-Qian; Huang, He-Feng; Xu, Chen-Ming

    2017-01-01

    X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. PMID:28231257

  12. Predicting lung maturity in preterm rupture of membranes via lamellar bodies count from a vaginal pool: a cohort study

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    Nachum Zohar

    2009-10-01

    Full Text Available Abstract Background Amniocentesis is the accepted mode of attaining amniotic fluid to perform tests for fetal lung maturity. The purpose of this study was to validate a non-invasive fetal lung maturity test by counting lamellar bodies from a vaginal pool among women with preterm premature rupture of membranes. Methods In a prospective study, amniotic fluid specimens were collected from a vaginal pool from women after preterm premature rupture of membranes with gestational age between 27 and 36 completed weeks. Receiver operating characteristics curve was estimated to assess the threshold of lamellar bodies' count that may predict fetal lung maturity. Results Seventy-five specimens were collected of which 17 were between 32 to 34 weeks. A lamellar bodies' count of 28,000 or more predicted mature fetus 100% of the time (specificity among all women and also among women between 32 to 34 weeks. The sensitivity was 72% among all and 92% when gestational age was between 32 to 34 weeks. A count of 8,000 or less, predicted respiratory distress syndrome with a sensitivity of 98% among the whole group. Conclusion Counting of lamellar bodies in amniotic fluid from a vaginal pool may be used to predict fetal lung maturity.

  13. Analysis on Karyotype of Amniotic Fluid Cells from 3 800 Fetus and Related Genetic Counseling%3800例羊水细胞染色体核型分析及相关遗传咨询

    Institute of Scientific and Technical Information of China (English)

    孙立娟; 李岩; 张秀玲; 史云芳; 李晓洲; 张颖

    2011-01-01

    目的:探讨染色体异常核型与产前诊断指征的关系及羊膜腔穿刺术的安全性,为产前遗传咨询提供客观的实验依据.方法:3 800例具备产前诊断指征的妊娠妇女,在知情选择的情况下行羊膜腔穿刺术及染色体核型检测.分析相关数据,追踪羊膜腔穿刺术的结局.结果:羊水细胞一次培养成功率为99.26%(3772/3 800),两次培养成功率为99.97%(3 795/3 796).在3 795例羊水细胞培养成功的染色体核型中,检出异常核型120例,异常率为3.16%,其中染色体数目异常率1.61%(61/3 795),结构异常率O.58%(22/3 795),多态性变异异常率0.97%(37/3 795).产前诊断指征中,按羊膜腔穿刺例数.位于前3位的分别是唐氏综合征筛查高危人群组(以下简称唐筛高危组,3 54l 例)、不良妊娠分娩史组(95例)和单纯高龄组(≥35岁,83例).检出染色体异常核型例数前3位的分别是唐筛高危组(103例)、夫妻单方染色体异常组(8例)和单纯高龄组(4例).染色体核型异常率前3位的分别是夫妻单方染色体异常组(38.10%,8/21,仅1例有临床意义)、超声提示胎儿异常组(9.38%.3/32)和单纯高龄组(4.82%.4/83).唐筛高危组中,高龄和低龄妊娠妇女染色体核型异常率差异有统计学意义(x2=4.342,P0.05).胎儿丢失率0.237%(9/3 800).胎死宫内率0.053%(2/3 800).结论:①唐筛高危、高龄、超声提示胎儿异常及夫妻单方染色体异常者均有必要进行产前诊断.②羊膜腔穿刺术相对安全.③根据相关实验数据对高危妊娠妇女进行个体化遗传咨询是必要的.%Objective: In order to constitute a basis for genetic counseling, we studied the relationship between fetal chromosomal aberrations and prenatal diagnosis indications, and analyzed the security of amniocentesis. Methods:Fetal chromosomal karyotypes were examined in 3 800 pregnant women with amniotic cell culture in accordance with the indications for prenatal diagnosis. We studied the

  14. Sonographic markers for early diagnosis of fetal malformations

    Institute of Scientific and Technical Information of China (English)

    Maria; Daniela; Renna; Paola; Pisani; Francesco; Conversano; Emanuele; Perrone; Ernesto; Casciaro; Gian; Carlo; Di; Renzo; Marco; Di; Paola; Antonio; Perrone; Sergio; Casciaro

    2013-01-01

    Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a"genetic sonogram",including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).

  15. 产前诊断中的羊水细胞培养检测染色体异常

    Institute of Scientific and Technical Information of China (English)

    毛倩倩; 周惠耕; 鲁莉萍; 邹波

    2007-01-01

    目的 通过分析妊娠中期胎儿羊水细胞染色体核型检查,明确妊娠中期羊膜腔穿刺的指征,价值,可行性和安全性.方法 2081例在妊娠19~21 w有产前诊断指征的孕妇,在超声波引导下经腹行羊膜穿刺抽羊水(percutaneous ultrasiund-monitored amniocentesis,PUMAC)进行遗传学诊断.结果 2081例中查出异常核型82例,异常检出率为3.9%.无穿刺并发症.结论 孕中期行PUMAC遗传学检查是诊断胎儿有无患染色体病的常用产前诊断方法,具有诊断正确,安全,可靠的优点.

  16. Reference intervals for N-terminal pro-B-type natriuretic peptide in amniotic fluid between 10 and 34 weeks of gestation.

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    Waltraut M Merz

    Full Text Available BACKGROUND: In adult and pediatric cardiology, n-terminal pro-B-type natriuretic peptide (nt-proBNP serves as biomarker in the diagnosis and management of cardiovascular dysfunction. Elevated levels of circulating nt-proBNP are present in fetal conditions associated with myocardial pressure or volume load. Compared to fetal blood sampling, amniocentesis is technically easier and can be performed from early pregnancy onwards. We aimed to investigate amniotic fluid (AF nt-proBNP concentrations in normal pregnancies between 10 and 34 weeks of gestation. METHODS: Nt-proBNP and total protein (TP was measured in AF by chemiluminescence assay (photometry, respectively. To adjust for a potential dilutional effect, the AF-nt-proBNP/AF-TP ratio was analyzed. Reference intervals were constructed by regression modeling across gestational age. RESULTS: 132 samples were analyzed. A negative correlation between AF-nt-proBNP/AF-TP ratio and gestational age was observed. Curves for the mean and the 5% and 95% reference interval between 10 and 34 weeks of gestation were established. CONCLUSION: In normal pregnancy, nt-proBNP is present in AF and decreases during gestation. Our data provide the basis for research on AF-nt-proBNP as biomarker in fetal medicine.

  17. Invasive prenatal diagnostic procedures in twin gestations%介入性产前诊断技术在双胎妊娠中的应用

    Institute of Scientific and Technical Information of China (English)

    韩振艳; 方群; 罗艳敏; 陈宝江; 陈敏玲; 陈健生; 陈筠虹; 陈涌珍

    2011-01-01

    Objective To evaluate the effectiveness and safety of invasive procedures of prenatal diagnosis for twin gestations through analysing the results and outcomes of twins.Methods Invasive prenatal diagnostic procedures guided by ultrasound were introduced to 164 twin pregnancies with various indications,including 111 amniocentesis,and 53 cordocentesis.The results of prenatal diagnosis,complications and outcomes of these twins were analyzed with Chi-square test or Fisher's exact test.Results (1) Chromosome was examined in 261 fetuses and 6.13% (16/261)had abnormal karyotypes.(2) Comparing amniocentesis with cordocentesis,the fetal loss rate within two weeks after the procedure were 0.00% (0/191) and 3.85% (3/78),respectively (P=0.024).The total fetal loss rate and preterm delivery rates in amniocentesis and cordocentesis group were 3.87% (6/155) and 5.45% (3/55),51.22% (42/82)and 38.71% (12/31),respectively (P=0.235and 0.618).(3) Selective feticide was performed on 18 cases after prenatal diagnosis.Fifteen cases had survival neonates,two cases suffered from spontaneous abortion,and two cases had preterm labor with neonatal death.Conclusions (1) Invasive prenatal diagnostic procedures are effective and feasible in twins.Amniocentesis is a relative safer and simpler alternative to cordocentesis,which demanding higher skill and carrying higher fetal loss rate.(2) Mid-trimester selective feticide after prenatal diagnosis appears safety.Before the procedure,the chorionicity and fetal condition should be considered,in order to choose suitable feticide procedures.%目的 通过分析双胎妊娠产前诊断结果 及妊娠结局,探讨双胎介入性产前诊断技术的有效性及安全性.方法 超声介导下对有各种产前诊断指征的164例双胎妊娠行介入性产前诊断操作,包括羊膜腔穿刺(简称羊穿)111例、脐带穿刺(简称脐穿)53例,分析产前诊断结果,追踪术后并发症及妊娠结局.率的比较采用x2

  18. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

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    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  19. Second-Trimester Diagnosis of Triploidy: A Series of Four Cases

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    J. B. Wick

    2013-05-01

    Full Text Available Triploidy occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. We present a series of four cases of second-trimester triploidy diagnosed at our center within a 1-year timeframe. This is remarkable, as the delivery volume at our institution is roughly 2,500/y. All patients were at least 19 weeks' gestation, with multiple abnormalities identified on prenatal ultrasound at 18 to 20 weeks' gestation; all fetuses had lethal anomalies, but anomalies were not consistent between cases. All patients elected for induction of labor before 24 weeks' gestational age. Two of the four cases had amniocentesis and chromosome analysis prior to delivery, and two cases had chromosome analysis performed on fetal tissue after delivery. All fetuses were examined following delivery. This case series demonstrates that the diagnosis of triploidy may not be obvious based on ultrasound and physical examination findings and highlights the importance of routine chromosome analysis on all prenatal diagnoses of multiple congenital anomalies prior to consideration of more complex genetic testing.

  20. Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

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    Mary E. Norton

    2014-01-01

    Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

  1. Prenatal diagnosis of Down syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction

    Institute of Scientific and Technical Information of China (English)

    Wu Dan; Chi Hongbin; Shao Minjie; Wu Yao; Jin Hongyan; Wu Baiyan; Qiao Jie

    2014-01-01

    Backgroud Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments.This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis,which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome.Methods AF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes.Peripheral blood samples of the parents were collected at the same time.Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR.Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.Results The sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval,CI:77%-98%) and the specificity was 100% (26/26; CI:88%-100%).The determination rate of the origin of the extra chromosome was 69%.The sensitivity and the specificity of the assay in the euploid were 100% (27/27).Conclusions Trisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant.This karyotype analysis method greatly reduces the requirement for the specimen size.It will be a benefit for early amniocentesis and could avoid pregnancy complications.The method may become an ancillary method for prenatal diagnosis of trisomy 21.

  2. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study

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    LIU Tao; LIU Qing; WANG Yi-xin; YANG Dong; XIN Yi; FANG Zhen; DING Shu-fang; YANG Jie-fu

    2010-01-01

    Background A study of prenatal genetic diagnosis for 22q11.2 mierodeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally.Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method.Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation.Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.

  3. Phytoestrogens in Human Pregnancy

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    John Jarrell

    2012-01-01

    Full Text Available Background. The hormonal milieu associated with pregnancy has become a focus of interest owing to potential links with the developmental origins of health and disease. Phytoestrogens are hormonally active plant-derived chemicals that may have an impact on human reproductive processes. However, developmental exposure to phytoestrogens has not been well characterized and thus our objective was to quantify phytoestrogen exposure during pregnancy and lactation. Methods. Women in the second trimester of pregnancy entered the study during counseling for prenatal genetic information. Women who had an indication for a genetic amniocentesis on the basis of late maternal age were approached for inclusion. They completed an environmental questionnaire; a sample of amniotic fluid was collected for karyotype, blood was collected from women during pregnancy and at birth, from the umbilical cord and breast milk. Samples were tested for the presence of daidzein and genistein by GC Mass Spectroscopy. Findings. Phytoestrogens are commonly found in pregnant women’s serum and amniotic fluid during pregnancy. There is a sex difference in the concentrations with higher levels in amniotic fluid containing female fetuses. This difference was not present in maternal serum. Soy ingestion increases amniotic fluid phytoestrogen concentrations in female and male fetuses. The presence and concentrations of phytoestrogens did not differ in relation to common pregnancy complications or preexisting infertility.

  4. Clinical significance of an isolated choroid plexus cysts in the second trimester of pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Hye; Lee, You Me; Son, Jung Ryun; Shin, Yong Won; Kim, Ji Hye; Lee, Sook Hwan [Pochon CHA University College of Medicine, Pochon (Korea, Republic of)

    2001-03-15

    To evaluate the significance of fetal choroid plexus cysts (CPCs) in the second trimester of pregnancy. Eighty-nine cases of isolated CPCs were prospectively followed up and 5 consecutive pregnancies of trisomy 18 were analyzed. Isolated CPCs were defined as follows: 1)there were no other abnormalities except CPCs on the detailed ultrasound. 2) the mother did not have any risk factors requiring amniocentesis. We compared maternal age, gestational age at time of detection, and the characteristics of CPCs in the groups of isolated CPCs and trisomy 18. We evaluated the autopsy findings or sonographic abnormalities in the group of trisomy 18. Material and gestational age were not different in both groups (29 +- 2.1 vs 31 +- 3.9 years old; 19 +- 1.8 vs 19 +- 1.3 week; p>0.05). The size of isolated CPCs was smaller than that of trisomy 18 (6.5 +- 2.5 vs 12.6 +- 4.6 mm; p<0.01). All of isolated CPCs had disappeared and there was no trisomy 18. In the group of trisomy 18, all of them had CPCs and at least one other associated abnormalities. The risk of trisomy 18 in cases of isolated CPCs was very low. In this setting, the detailed ultrasound examination rather than the routine karyotyping is mandatory.

  5. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

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    Carolina Sismani

    2015-01-01

    Full Text Available Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs and a single umbilical artery (SUA and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS. Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

  6. Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report

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    Pedro Alí Díaz-Véliz Jiménez

    2013-10-01

    Full Text Available The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX. A male was diagnosed through ultrasound and a sample of amniotic fluid was sent to the National Medical Genetics Center to confirm it. A study of the SRY gene was completed and the result was positive. The patient decided to terminate the pregnancy. The pathology report showed a fetal corpse of 25, 3 weeks of gestation, with penis and morphologically normal scrotal sacs, presenting alterations by cysts and hypoplasia of the prostate and seminal vesicles as well as testicular absence. In the literature, cases of XX males are considered uncommon while those combining a mosaic 45, X/46, XX with a SRY gene are less addressed; and therein lies the importance of this case. This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.

  7. Why are autism spectrum conditions more prevalent in males?

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    Simon Baron-Cohen

    2011-06-01

    Full Text Available Autism Spectrum Conditions (ASC are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male brain. The extreme male brain (EMB theory, first proposed in 1997, is an extension of the Empathizing-Systemizing (E-S theory of typical sex differences that proposes that females on average have a stronger drive to empathize while males on average have a stronger drive to systemize. In this first major update since 2005, we describe some of the evidence relating to the EMB theory of ASC and consider how typical sex differences in brain structure may be relevant to ASC. One possible biological mechanism to account for the male bias is the effect of fetal testosterone (fT. We also consider alternative biological theories, the X and Y chromosome theories, and the reduced autosomal penetrance theory. None of these theories has yet been fully confirmed or refuted, though the weight of evidence in favor of the fT theory is growing from converging sources (longitudinal amniocentesis studies from pregnancy to age 10 years old, current hormone studies, and genetic association studies of SNPs in the sex steroid pathways. Ultimately, as these theories are not mutually exclusive and ASC is multi-factorial, they may help explain the male prevalence of ASC.

  8. What is the impact of antenatal diagnosis on long-term outlook?

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    Garel, Laurent [CHU Ste-Justine, Department of Medical Imaging, Montreal (Canada)

    2008-06-15

    Congential malformations result in very significant consequences in paediatrics; more than 20% of infant mortality, more than 30% of paediatric ICU admissions, and one-third of overall admissions in the paediatric age group are linked to congential malformations. Health economics and antenatal diagnosis. Key issues yet to be addressed include: 1. Clarification of the objectives for screening for birth defects: Is it to detect cases or to prevent the birth of affected fetuses? 2. The establishment of the trade-of between resources allocated to screening and those allocated to help families and disabled children. 3. The value of a child born with structural or chromosomal defects compared with miscarriage of a normal fetus following amniocentesis. Apart from the ethical debates related to prenatal screening (variable expertise, rationing of resources, eugenics), the economic evaluations of antenatal diagnosis espouse the hypothesis and value judgment of the health commissioners. Indeed, prenatal screening and antenatal diagnosis carry high political and social stakes that make evidence-based evaluation of their impact more difficult than in any field in medicine. (orig.)

  9. Coincidence of Trisomy 18 and Robertsonian (13; 14

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    A Alavi

    2012-07-01

    Full Text Available This case report presents a coincidence of trisomy 18 and balanced Robertsonian translocation (13;14. Aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. In a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported IUGR (<3rd percentile with normal amniotic fluid, bilateral choroid plexus cysts, suspicious agenesis of corpus callosum and clenched hands. Amniocentesis was performed and karyotype was 46xx,der(13;14 (q10;q10,+18. Maternal karyotype was 45xx,der(13;14(q10;q10. Pregnancy was continued due to legal limitation for termination after 20 weeks gestation. Delivery was done at 36 weeks gestation. A female newborn was borned and a physical feature was hypotonia, small mouth, prominent occiput, low-set and posteriorly rotated ears, clenched hands with overlapping fingers and rocker bottom feet. Ultrasound scan and echocardiography detected agenesis of corpus callosum and VSD, ASD, PDA and cardiomegaly. These features are typical of trisomy 18. Balanced Robertsonian translocation usually has no phenotypic expression. Genetic counseling and prenatal diagnosis for future pregnancy was recommended.

  10. 22q11 deletion syndrome and urogenital manifestationsA clinicopathological case report and review of the literatureM.Vachette MD*, GE.Grant MD*, J.Bouquet de Joliniere MD.PhD*, M. Jotterand MD** N.Ben Ali MD*, A.Feki MD.PhD * and R.Brugger MD.*Department of gynecology and obstetrics, HFR, Fribourg, Switzerland.** Institute of pathology, CHUV, Lausanne, Switzerland.

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    Jean Bouquet De Jolinière

    2016-11-01

    Full Text Available Background: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. History and Signs: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. Outcome: At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn that presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias and penile hypoplasia. Conclusions: We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.

  11. A case of Thanatophoric Dysplasia typeⅠat 15 weeks of gestation%妊娠早期15週B型超聲波診斷胎兒先天性骨致死性發育不良症(Ⅰ型)

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    Nelson Bandeira; 王強

    2001-01-01

    我們報導的是一例妊娠早期十五週B型超聲波診斷胎兒先天性骨致死性發育不良症(Ⅰ型).胎兒是在常規產前B型超聲波檢查時被發現有嚴重的肢體畸形,其表現爲四肢及長骨較正常標凖短(<2SD),同時胎兒胸部細小及腹部突出,有關特徵提示爲胎兒先天性骨致死性發育不良症(Ⅰ型),同時,我們提供羊水染色體檢查及多聚鏈反應蛋白(PCR)確診有關診斷.%We describe a case of thanatophoric dysplasia (type Ⅰ) that was diagnosed at 15 weeks of gestation on a dating scan. The fetus was visualized within the limbs deformed under sonographyic scan. The fetus had shown the limbs were shorter than normal (< 2SD), with small chest and protruding abdomen. These finding do supported limbs dysplasia that the thanatophoric dysplasia to be suggested. The follow examination of amniocentesis and PCR had confirmed the diagnosis.

  12. 假肥大型肌营养不良症的产前基因诊断%Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy

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    黎青; 李少英; 胡冬贵; 孙筱放; 陈敦金; 张成; 蒋玮莹

    2006-01-01

    Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.

  13. A Review of Brain Extraction Techniques in Fetal MRI

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    Morteza Pishghadam

    2016-03-01

    Full Text Available Sonography, Maternal Serum Screening, amniocentesis, and sampling are among the techniques utilized to examine a developing fetus and diagnose fetal abnormalities in the uterus. Despite the fact that Sonography is the main technique used for imaging and monitoring, the use of Magnetic Resonance Imaging (MRI to evaluate the fetus is growing. Moreover, MRI is used for further examinations in case of abnormalities diagnosed in the ultrasound scan. MRI, in comparison with other imaging techniques, provides the advantage of fetal brain study with higher precision and quality. The first step to study the fetal brain is its extraction from the MRI of the fetal brain. Since the maternal tissue is also present in the MRI of the fetal brain tissue, and due to the differences in the adult and fetus signals of brain tissue, it is not possible to use the adult brain extraction techniques for fetus. Given that semi-automatic segmentation is a time-consuming and tedious task, the need for automatic segmentation is highlighted. This is while the development of the stages of automatic segmentation of brain structures is still a challenge to overcome. In the present paper, we review the techniques for automatic segmentation or brain extraction of fetal MRI.

  14. Prediction markers for respiratory distress syndrome: evaluation of the stable microbubble test, surfactant protein-A and hepatocyte growth factor levels in amniotic fluid.

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    Kumazawa K

    2003-02-01

    Full Text Available Surfactant treatment in infants with respiratory distress syndrome (RDS has decreased neonatal mortality. With the advent of this therapy, it has become important to predict accurately the fetal lung maturity of a fetus before delivery. We evaluated the stable microbubble test (SMT, surfactant protein-A (SP-A and hepatocyte growth factor (HGF in amniotic fluid as predicting markers for RDS. Of 55 amniotic fluid samples obtained by amniocentesis from women less than 37 weeks pregnant, the SMT values were as follows: sensitivity 76.5%, specificity 84.2%, positive predictive value 68.4%, negative predictive value 88.9% and overall accuracy 81.8%. For SP-A, the values were 88.2%, 65.8%, 53.6%, 92.6% and 72.7%, respectively. If we used both SMT and SP-A, we could diagnose with 100% accuracy that a case with measurements of SMT > or = 2 and SP-A > or = 420 ng/ml would not complicate with RDS (24/24. However, the RDS diagnostic accuracy of HGF does not equal to those of SMT and SP-A levels. We concluded that the rapidity, simplicity and reliability of SMT was very useful during 24-36 weeks of gestation as a bedside procedure to predict fetuses likely to develop RDS. We also noted the additive effect of SP-A in improving the accuracy of lung maturity diagnosis.

  15. Intraamniotic Inflammation in Women with Preterm Prelabor Rupture of Membranes.

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    Ivana Musilova

    Full Text Available To characterize subgroups of preterm prelabor rupture of membranes (PPROM and short-term neonatal outcomes based on the presence and absence of intraamniotic inflammation (IAI and/or microbial invasion of the amniotic cavity (MIAC.One hundred and sixty-six Caucasian women with singleton pregnancies were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis (n=166 and were assayed for interleukin-6 levels by a lateral flow immunoassay. The presence of Ureaplasma species, Mycoplasma hominis, Chlamydia trachomatis, and 16S rRNA was evaluated in the amniotic fluid. IAI was defined as amniotic fluid IL-6 values, measured by a point of care test, higher than 745 pg/mL.Microbial-associated IAI (IAI with MIAC and sterile intraamniotic inflammation (IAI alone were found in 21% and 4%, respectively, of women with PPROM. Women with microbial-associated IAI had higher microbial loads of Ureaplasma species in the amniotic fluid than women with MIAC alone. No differences in the short-term neonatal morbidity with respect to the presence of microbial-associated IAI, sterile IAI and MIAC alone were found after adjusting for the gestational age at delivery in women with PPROM.Microbial-associated but not sterile intraamniotic inflammation is common in Caucasian women with PPROM. The gestational age at delivery but not the presence of inflammation affects the short-term neonatal morbidity of newborns from PPROM pregnancies.

  16. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

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    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  17. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

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    Serapinas, Danielius; Bartkeviciene, Daiva; Valantinaviciene, Emilija; Machtejeviene, Egle

    2016-10-01

    The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants. To highlight this approach of NIPT we present a rare case of confined placental X chromosome monosomy mosaicism that was prenatally suspected with a single-nucleotide polymorphism-based noninvasive prenatal test. The results of invasive tests (amniocentesis) showed small proportion of X chromosome mosaicism (45, X[5]/46, XX[95]). After birth karyotype of the girl revealed no abnormalities (46 XX), confirming that mosaicism was limited to the placenta. These results highlight the need of patient's informed consent and thorough pretest and postest counseling to ensure that they understand the limitations and advantages of the tests and the implications of the resultss.

  18. Screening of Fetal Chromosome Aneuploidies in the First and Second Trimester of 125,170 Iranian Pregnant Women

    Science.gov (United States)

    SEYYED KAVOOSI, Elham; YOUNESSI, Sarang; FARHUD, Dariush D.

    2015-01-01

    Background: Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in newborns. The aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in Iran. Methods: A descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnostic laboratory (Niloo Laboratory, Tehran) for prenatal screening tests (2010–2013). Patients were divided into 3 groups: first trimester screening (FTS), second trimester screening (STS), and combined screening groups. In positive and borderline cases, and amniocentesis and cytogenetic analysis were carried out. Results: Total prevalence of aneuploidy in 125,170 pregnant women was one in 491, (Detection Rate=82.7% for Down syndrome). The DR for DS in three groups was as follow: 87.5% for FTS (25783 women), 80.9% for STS (91345 women), and 94.7% for combined tests (8042 women). Total number of cases with Edward's syndrome was 18, Patau's syndrome six, Klinefelter syndrome six, triploidy three, and Cri-du-chat syndrome one. Conclusion: The present study shows the frequency of aneuploidy in the first and second trimester screenings in a major medical laboratory in Tehran. The prevalence of aneuploidies grows with increased maternal age. The rate of aneuploidy in first trimester is higher than second. PMID:26258091

  19. 孕妇外周血中游离胎儿DNA检测在诊断胎儿染色体异常中的应用价值%Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities

    Institute of Scientific and Technical Information of China (English)

    汪淑娟; 高志英; 卢彦平; 李亚里; 游艳琴; 张立文; 汪龙霞; 徐虹

    2012-01-01

    细胞占羊水总细胞的2%,未行引产,胎儿出生后未发现结构异常;有l例因在穿刺手术前已发生胎死宫内,未能进行核型验证,其前超声提示胎儿较孕周小3周,且全身水肿.(3)3组孕妇血浆中游离胎儿DNA检测结果阴性者3173例,经电话随访,截止至2012年5月30日,已有1230例新生儿出生,经检查均未发现唐氏综合征患儿.结论 游离胎儿DNA检测是一种安全、准确、高通量的21三体产前检测方法,与染色体核型分析结果相符;作为唐氏综合征患儿血清学筛查高风险孕妇的进一步筛选方法,可大幅度减少介入性产前诊断,并可作为临床诊断唐氏综合征的依据.%Objective To investigate the value of detection of fetal cell-free fetal DNA(cff-DNA)in maternal plasma in the prenatal diagnosis of chromosomal abnormalities.Methods The plasma from 3200 gravidas(singleton with 20.3 ± 3.8 gestational weeks)was collected from April 1st 2011 to May 30th 2012.They were divided into 3 groups:(1)To tally 1720 cases were included in the high-risk serological screening group,in which women were younger than 35 years and got high-risk results in serological screening;(2)To tally 1310 cases were included in the advanced age group,in which women's age was more than 35 years;(3)To tally 170 cases were included in the supplementary group,in which women were younger than 35 years and got low-risk results in serological screening,or women who didn't take serological screening tests.All the 3030 gravidas in group 1 and 2 didn't take invasive prenatal diagnosis because of fear of abortion or short of prenatal diagnosis.Cff-DNA were detected by next generation sequencing in Shenzhen BGI Genomics Center for clinical laboratory.Amniocentesis and karyotype analysis were provided to the positive cases and women with negative results were followed-up by telephone.Results(1)The 3200 cases took cff-DNA detection,and 31 cases got positive results,including 27 cases of trisomy 21 and 4 cases of

  20. Analysis of Application of Results of Down's Syndrome Screening in 10 812 Cases of Mid-pregnancy Diagnosis%10812例孕中期唐氏筛查结果在产前诊断中的应用分析

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    张红霞; 高淑珍; 费安兴; 邢庭阔; 游爱平

    2014-01-01

    为探讨检测孕妇孕中期血清中甲胎蛋白( hAFP )及游离-β人绒毛膜促性腺激素( Free β-HCG)2项标志物对唐氏筛查的临床价值,对2008年1月至2013年8月在黄石市妇幼保健院进行产前检查的10812例孕妇在妊娠14~20+6周期间采取知情同意原则,进行血清 hAFP 及 Free β-HCG检测,对于唐氏筛查结果为高风险孕妇于20~24周行羊膜腔穿刺进行羊水细胞染色体核型分析,并对唐氏筛查结果进行可行性分析。结果为:10812例孕妇中有535例为高风险患者,高风险率为4.94%,其中21-三体阳性340例;18-三体阳性36例;神经管缺陷( NTD)阳性为159例。355例高风险孕妇行羊膜腔穿刺,发现羊水细胞染色体异常14例,异常检出率为3.94%,其中21-三体9例,18-三体2例,其他染色体异常3例。孕中期唐氏筛查结合羊水细胞染色体核型分析能有效降低唐氏儿及神经管缺陷等患儿的出生率,在产前诊断中有重要的应用价值。%Objective: To study and detect clinical value of two markers which were fetoprotein ( h AFP ) and Free β-HCG for mid -pregnant women's Down Syndrome screening.Methods: With the informed consent principle , 10 , 812 cases of pregnant women during the 14 to 20+6 weeks of gestation whose antenatal exam-ination were done in Huangshi Maternal and Child Health Hospital were conducted with serum h AFP and Free β-HCG detection .The high -risk pregnant women during 20 to 24 weeks were performed by amnio-centesis and chromosome karyotype of amniotic fluid cells was analyzed .The results of Down Syndrome screening were used to make the feasibility analysis .Results: There were 535 high risk patients among 10 , 812 cases , high -risk rate was 4 .94%, including 340 cases of Trisomy 21-positive;159 cases of neural tube defects ( NTD) positive in 159 cases.355 cases of high risk pregnant women underwent amniocentesis and amniotic fluid cells were

  1. 人羊水干细胞分离方法及其生物学特性研究%Isolation and Biological Characterization of Human Amniotic Fluid-derived Stem Cells

    Institute of Scientific and Technical Information of China (English)

    关婷; 谢晓砚; 刘珊玲; 陈新莲; 魏杨君; 赖怡; 谢良玉; 刘之英; 张雪梅; 刘洪倩; 张建军

    2012-01-01

    Objective To establish in vitro culture procedure for human amniotic fluid-derived CD117 positive stem cells, and to identify the characteristics of CD117 positive stem cells. Methods 86 amniotic fluid samples (10 mL of each) were obtained by second-trimester amniocentesis. Isolation of amniotic fluid-derived stem cells expressing CD117 antigen was performed via magnetic cell sorting using the CD117 MicroBead Kit. The karyotype of CD117 positive stem cells was analysed throughrepeated freezing. Adipogenic differentiation of these CD117 positive stem cells was displayed by Oil Red O staining. Osteogeneic differentiation of these CD117 positive stem cells was confirmed by Alizarin Red staining. Results The CD117 positive stem cells were successfully isolated and cultured from 61 samples, with all showing normal karyotype. Product analysis of specific staining confirmed that under specific culture mediums, these cells could be successfully induced to differentiate into adipocytes and osteocytes. Conclusion Based on this study, we estimate that isolating CD117 positive stem cells from second-trimester amniotic fluid obtained by amniocentesis has a success rate of 70. 93%. These cells maintain morphological and genetic stability in vitro. Human amniotic fluid-derived CD117 positive stem cells have the ability to differentiate in vitro into adipocytes and osteocytes under specific cuLture mediums and may be applied in cell transplantation and regenerative medicine.%目的 建立体外培养人羊水来源CD117阳性干细胞的方法,初步探讨CD117阳性干细胞的特性.方法 通过孕中期羊膜腔穿刺获得86例羊水标本.采用CD117磁珠分选表达CD117抗原的羊水干细胞.对经过反复冻存的CD117阳性干细胞进行核型分析.分别经成脂诱导和成骨诱导分化,再分别使用油红O染色、茜素红染色.结果 从61例标本中成功分离培养出CD117阳性细胞,经核型分析显示其染色体核型正常.CD117阳性细胞经

  2. Prenatal diagnosis of fetal chromosomal karyotype in 6389 cases of high-risk pregnant women in the second trimester of pregnancy%6389例孕中期高危孕妇胎儿染色体核型产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    古丽娜孜·米吉提; 丁娟; 丁桂凤; 刘璇; 马光娟; 代文成

    2016-01-01

    目的 通过对6389例孕中期不同产前诊断指征高危孕妇的胎儿羊水染色体核型分析,探讨胎儿染色体异常核型的类型及发生频率,为有效开展产前诊断提供基础数据.方法 经腹羊膜腔穿刺抽取6389例高危孕妇羊水20ml,进行细胞培养,制备染色体标本,分析胎儿染色体核型.结果 6389例孕妇中,羊水细胞培养成功6348例,成功率为99.36%.检出异常染色体核型243例,异常检出率为3.80,%.不同产前诊断指征分组中的异常检出率不同,以高龄孕妇组异常率最高,为4.47%.结论 羊水细胞染色体核型分析是产前诊断的重要手段,高龄孕妇、母血清筛查高风险及超声显示的胎儿异常是产前诊断的重要指征.综合应用多种筛查及诊断方法,对于预防和控制出生缺陷意义重大.%Objective:To effectively provide basic data for prenatal diagnosis through analyzing fetal amniotic chromosome for prenatal diagnosis in 6389 cases of pregnant women with different indications during the second trimester of pregnancy.Methods:The 6389 specimens of amniotic cell obtained by amniocentesis were cultured and analyzed retrospectively.Results:Amniocentesis was successfully performed on all cases finally,the success rate of amniotic fluid cells culture was 99.36% (6348/6389).243 fetuses were found chromosome abnormalities,the rate was3.80%.The chromosome abnormality rates were different in different groups with different prenatal diagnosis indications,in which the chromosome abnormality rates were the highest among the elderly pregnant women.Conclusion:Chromosomal karyotype analysis on high risk population in the midtrimester of pregnancy is an important prenatal diagnosis method.Advanced maternal age,serum screening and B ultrasound screening are important measures to find ferus with chromosomal diseases.The birth defects can be prevented and controlled effectively by use different screening and diagnosis methods.

  3. 产前超声检查在诊断染色体非整倍体异常胎儿中的价值%Application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities

    Institute of Scientific and Technical Information of China (English)

    钟惟娜; 邓学东

    2012-01-01

    目的 探讨产前超声检查在非整倍体异常胎儿诊断中的价值.方法 对2009年9月至2011年12月在我院经羊水细胞染色体核型分析诊断为非整倍体异常的24例胎儿产前超声异常声像图特征进行总结分析.结果 24例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常20例(83.3%,20/24),包括21-三体9例(9/13)、18-三体3例(3/3)、13-三体3例(3/3)、45,X 5例(5/5).其中单发畸形4例(20%,4/20),多发畸形13例(65%,13/20),仅表现为超声软标志异常3例(15%,3/20).18-三体、13-三体及45,X胎儿均有超声可检出的明显结构畸形或异常,21-三体胎儿3例,仅表现为超声软标志异常.24例非整倍体异常胎儿中以心脏畸形检出例数居多(41.7%,10/24),而颈部淋巴水囊瘤是45,X胎儿一个极其重要的超声标志.结论 非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱,超声作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要临床意义.%Objective To investigate the clinical application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities . Methods Ultrasound imaging features in 24 aneuploidy abnormal fetuses which were diagnosed by amniocentesis in our hospital from September 2009 to December 2011 were analyzed retrospectively. Results Twenty -four cases of aneuploidy abnormalities dectected by amniocentesis were examined by prenatal ultrasound. Of these cases, twenty were found abnormalities , including 9 with trisomy 21,3 with trisomy 18,3 with trisomy 13 and 5 with 45 ,X monomer. Prenatal ultrasound showed single malformation in 4 cases, multi-malformation in 13 cases and separate ultrasonographic soft markers in 3 cases. Fetuses with trisomy 18,trisomy 13 and 45,X monomer were all had obvious structural abnormalities detected by ultrasound , otherwise, 3 cases of trisomy 21 had only ultrasonographic soft markers. In

  4. Karyotype analysis of second-trimester amniotic fluid cells in 572 high-risk pregnant women%高危孕妇572例妊娠中期羊水细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    朱蕊; 曾爱群; 杜晶春

    2016-01-01

    目的:探讨产前诊断指征与羊水细胞染色体核型异常的关系及羊膜腔穿刺术的安全性,为产前遗传咨询提供实验依据。方法:对2012年1月至2015年8月期间我院572例具备产前诊断指征的高危孕妇行羊膜腔穿刺术及羊水细胞染色体核型检查。结果:羊水细胞培养一次性成功率为99.83%;在572例培养成功的羊水细胞中,异常核型20例,异常率为3.50%,其中染色体数目异常17例,占85%,染色体结构异常3例,占15%。以高龄为产前诊断指征的299例孕妇中,异常核型7例,异常率为2.34%;在273例非高龄孕妇中,异常核型13例,异常率为4.76%。结论:(1)唐氏或无创DNA筛查高危、高龄、超声异常及不良孕产史者有必要进一步行产前诊断。(2)羊水细胞核型分析是一种相对安全性高,准确性高的诊断方法,其对降低新生儿出生缺陷,提高人口素质,减轻家庭和社会负担具有重要意义。%Objective To explore the relationship between prenatal diagnosis indications and fetal chromosomal aberrations , and the security of amniocentesis. Methods The amniotic fluid cells were sampled by amniocentesis and cultured in 572 high-risk pregnant women from January 2012 to August 2015. The chromosomal karyotypes were examined by G-banding. Results The success rate of the first amniotic fluid cells culture reached 99.83%. In all the 572 valid samples , there were 20 cases of chromosomal aberrations and the abnormal rate was 3.50%, including 17 of numeric aberrations and 3 of structural aberrations. There were 7 cases of chromosomal aberrations in all the 299 elderly parturient in high-risk indications and the abnormal rate was 2.34%, and there were 13 cases of chromosomal aberrations in all the 273 non-elderly parturient and the abnormal rate was 4.76%. Conclusions (1)It is necessary to further diagnose in pregnant women with high-risk factors

  5. The analysis of the cases underwent cordocentisis%胎儿经腹脐静脉穿刺术临床资料分析

    Institute of Scientific and Technical Information of China (English)

    张海燕; 陈俊雅; 孙瑜; 杨慧霞

    2015-01-01

    Objective To value the indications , methods and safety of the cordocentisis . Method Between January 2012 and December 2014, 303 cordocenteses were performed in 303 women with singleton pregnancy in the Peking University First Hospital . A 22-gauge percutaneous needle was used to puncture the umbilical vein at the relatively fixed position with the “free-armed” method. Result 91. 8%(278/303) procedures were performed to identify the fetal karyotype. But only 10. 5% (16/153)of the karyotypes of the fetuses with obvious abnormalities are abnormal. Three cases whose chromosomal karyotypes were mosaics by amniocentesis had normal karyotypes by cordocentesis. 92. 4%(280/303) cases just needed one puncture. The gross fetal loss rate after cordocentesis was 1. 32%(4/303), and the fetal loss rate in two weeks was 0. 99%(3/303), the fetal bradycardia rate was 3. 0%(10/303). Conclusion Cordocentesis is a relatively safe prenatal surgery. The most important indications for the procedure should be the diagnosis and treatment for fetal anemia, and the identification for the karyotypes of the fetuese with chromosomal mosaic by amniocentesis, as well as the chromosome karyotype analysis. But new laboratory methods should be performed to investigate the genetic anomalies for the fetuses with structural abnormalities.%目的:评价胎儿经腹脐静脉穿刺术的手术指征、方法及安全性。方法回顾性分析2012年1月至2014年12月在北京大学第一医院妇产科接受胎儿脐静脉穿刺术的303例病例的手术指征、方法及安全性。结果91.8%(278/303)的患者手术指征为明确胎儿染色体核型。其中胎儿患有明显畸形的病例中10.5%(16/153)染色体核型异常。10例手术指征为羊膜腔穿刺的染色体核型为嵌合型或有标记物,脐血穿刺术后3例染色体核型正常,7例与羊膜腔穿刺结果相符。92.4%(280/303)的孕妇穿刺一次成功。脐血穿刺术后胎儿的总流失率为1.32%(4/303),

  6. To investigate the Clinical Value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome%探讨3236例孕中期唐氏筛查的临床意义

    Institute of Scientific and Technical Information of China (English)

    王海燕; 陈熙; 周莉君; 刘云

    2014-01-01

    Objective To investigate the clinical value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome. Methods Applicate time-resolved fluorescence immunoassay on 3236 cases of second trimester (14-20+6weeks) women with three targets labeled testing of serum markers AFP, uE3and Free-β-HCG.Calculate the risk of Down’s Syndrome risk by using software.For these pregnant women who is with high risk of Down’s syndrome, use Amniocentesis and B scan to find fetal karyotype .Results There are 980 pragnant women with abnormal individual value or high risk of Down’s syndrome.Make the diagnosis by B-ultrasound ,amniocentesis,and examinating the newbirth baby ,there are 14 (1.4%) fetus and fetalor postnatal diagnosis of Down syndrome and Chromosomal disease .There are 2256 pragnant women with low risk of Down’s syndrome.And among which,there are 8(0.4%) fetalor postnatal diagnosis of congenital disease.Conclusion The value of Second Prenatal Trimester Screening for screening Chromosomal disease and reducing birth defects in children born is significant.%目的:探讨孕妇孕中期进行唐氏筛查的临床应用价值。方法使用全自动时间荧光免疫分辨仪对3236例孕中期(14~20+6周)妇女进行血清标记物血清甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素Free-β-亚基(Free-β-HCG)三项指标进行检测,使用软件计算风险值,对高风险和单项值异常的孕妇进行B超和羊水染色体检查。结果:其中唐氏筛查高风险和单项值异常的孕妇共980例,通过B超和羊水检查,或出生后确诊胎儿患唐氏综合征或各类染色体疾病的共有14例,占1.4%。筛查结果为低风险的孕妇共2256例,通过B超或出生后诊断胎儿患先天性疾病的有8例,占0.4%。结论:对孕中期的孕妇进行唐氏筛查不仅检查出唐氏综合征胎儿,还可以筛查出患有其他染色体疾病或神经管缺陷的胎儿,对降

  7. 孕妇妊娠中期羊水中Ins13水平研究%Ins13 levels in second-trimester amniotic fluid

    Institute of Scientific and Technical Information of China (English)

    张丽娜; 李新娜; 曹艳菲

    2012-01-01

    目的 动物实验得知睾丸间质细胞激素胰岛素样因子3(insulin-like factor 3,Ins13)在腹部睾丸迁移过程中起到非常重要的作用.此过程在人类发生在妊娠中期(第二个3个月),本研究探讨是否人体中Ins13在睾丸下降过程中也起到一定作用.方法 经羊膜穿刺术60名孕妇取羊水测定Ins13及睾酮(testosterone,T)水平,选取样本孕周15-25w,确定胎儿男性28例,女性32例.结果 28例孕男性胎儿羊水中均检测到Ins13 (160.5±85.2pg/ml),而在孕女性胎儿羊水中均未检测到此激素水平.T水平在男性胎儿(1.05±0.30 nmol/L)与女性胎儿(0.33±0.05 nmol/L)相比具有显著差异性(P <0.0001).在男性胎儿中Ins13与T阴性相关,Ins13与孕龄统计学阴性相关处于基线水平(P=0.06),T与孕龄不相关(P=0.10);相反女性胎儿T水平与孕龄相关(P=0.03).结论 Ins13存在于人类孕中期孕有男性胎儿羊水中,而孕中期正值睾丸移位过程中.相反在女性胎儿羊水中未检测到Ins13,结果认为Ins13在人类睾丸下降过程同样起到重要作用.%Objective: The testicular leydig cell hormone insulin -like factor 3 (Ins13) exerts a essential function in abdominal testis translocation in animal studies, which occurs in the beginning of the second trimester in humans, however, human prenatal Insl3 levels has been poorly investigated. Methods: Amniotic fluid from 60 pregnant women undergoing amniocentesis were tested Insl3 and testosterone (T) levels. Data were related to gestational age (15 -25weeks) at amniocentesis and to sex (28 males and 32 females). Results: Insl3 was present in amniotic fluid in all male fetuses (160. 5 ± 85. 2pg/ml), whereas Insl3 was undetectable in the female fetuses. T was significantly higher in male (1.05 ±0.30) as compared with in female amniotic fluid (0. 33 ±0. 05) (P<0.0001). In males there was no correlation between Insl3 and T, A statistically borderline negative association was found between Insl3

  8. Clinical analysis of 78 newborns with isolated single umbilical artery%孤立性单脐动脉新生儿78例临床分析

    Institute of Scientific and Technical Information of China (English)

    关洪波

    2013-01-01

    目的 探讨孤立性单脐动脉(isolated single umbilical artery,ISUA)新生儿出生时的健康情况.方法 2006年1月至2012年12月于我院出生的ISUA新生儿78例为ISUA组,同期于我院出生的脐带发育正常新生儿78例为对照组,回顾性分析两组新生儿出生后的Apgar评分、出生体重、转入新生儿重症监护室发生率、新生儿脐动脉血pH值及新生儿母亲产前进行羊膜腔穿刺进行染色体检查情况.结果 ISUA组新生儿体重(3246±75)g,低于对照组(3565±58)g,差异有统计学意义(P<0.05),而两组新生儿的出生后Apgar评分、转入新生儿重症监护室的发生率、新生儿脐动脉血pH值的差异均没有统计学意义(P>0.05).ISUA组新生儿母亲产前26例行羊膜腔穿刺,对照组仅l例,胎儿染色体检查均正常.结论 ISUA新生儿出生时与正常新生儿相比健康状况无明显差异,不需特别监护.%Objective To investigate the healthy status of newborns with isolated single umbilical artery(ISUA).Methods A retrospective analysis was performed between newborns with ISUA (ISUA group,n =78)or without ISUA (control group,n =78),which were borned in our hospital during Jun 2006 ~Oct 2012.We compared the Apgar score at 1 and 5 minute,birth-weight,incidence of newborns admitted by neonate intensive care unit and pH value of umbilical arterial blood.The incidence of mothers amniocentesis for prenatal chromosome examination and outcomes of two groups were investigated.Results The birthweight of newborns with ISUA[(3246 ±75) g] was lower than that of the control group[(3565 ±58) g],the difference was statistically significant(P < 0.05).While the differences of Apgar score,the incidence of newborns admitted by neonate intensive care unit,and pH value of umbilical arterial blood between two groups showed no significance (P > 0.05).There were 26 cases underwent amniocentesis in ISUA group,however 1 case in control group.The fetal chromosomal tests

  9. The Clinical Value of Ultrasonography Screening for Fetal Chromosomal Trisomyduring the Second and Third Trimesters%妊娠中、晚期超声筛查胎儿染色体三体的临床价值

    Institute of Scientific and Technical Information of China (English)

    潘玉萍; 蔡爱露; 王冰; 曹喆; 王晓光; 王岳平

    2011-01-01

    Purpose To investigate the clinical value of ultrasonography screening for fetal chromosomal trisomy during the second and third trimesters. Materials and Methods Amniocentesis and cordocentesis were performed on 3 297 pregnant women with indications for prenatal diagnosis of chromosomal abnormalities during the second trimester and late pregnancy. The resultwas compared to 3 groups of patients: patients with ultrasonography abnormality, patients with high risk for Down’ s syndrome, and patients at advanced age. The relationship between ultrasonography abnormalities and confirmed chromosomal trisomy was also analyzed. Results Chromosomal karyotypes analysis was performed through amniocentesis in 3 110 pregnant women. A total of 53 chromosomal trisomy cases were detected with a detection rate of 1.70%. Ninety-eightout of 3 110 pregnant women showed ultrasonography abnormalities, of which 7 were found to have chromo somal trisomy (7.14%). This detection rate (7.14%) was higher than the Down’ s syndrome high risk group (1.15%, 14/1 222, χ2 = 20.842, P < 0.001) and advanced age group (0.73%, 5/688, χ2=23.489, p <0.001). In 187 pregnant women receiving chromosomal karyotype analysis through cordocentesis, 18 cases of chromosomal trisomy were detected and the detection rate was 9.62%. Of these 187 women, 128 showed ultrasonography abnormalities and 12 had chromosomal trisomy with detection rate=9.38%. Conclusion Ultrasonography is important in screening fetal chromosomal trisomy. Using combined screening methods can improve the detection of fetal chromosomal trisomy.%目的 探讨妊娠中、晚期超声筛查胎儿染色体三体的临床价值.资料与方法 在妊娠中期和中晚期对产前诊断染色体有异常指征的3 297例孕妇行羊水或脐血穿刺术检查染色体核型,比较超声异常组、唐氏高危组、高龄孕妇组的染色体三体检出率为7.14%,并分析染色体三体与超声异常的关系.结果 接受

  10. Longitudinal assessment of PCBs and chlorinated pesticides in pregnant women from Western Canada

    Directory of Open Access Journals (Sweden)

    Hauser Russ

    2005-06-01

    Full Text Available Abstract Background Maternal exposures to organochlorines prior to pregnancy are considered a risk to neonatal welfare, specifically in relation to neurocognitive functions. There is growing interest in the evaluation of maternal blood testing as a marker for fetal exposure as well as the variable geographic distribution of these priority chemicals. Methods Three hundred and twenty-three women in the second trimester of pregnancy entered the study at a prenatal clinic providing genetic counselling information. Subjects who had an indication for genetic amniocentesis based on late maternal age were eligible to participate. Two hundred and thirty-eight completed an environmental questionnaire. A sample of amniotic fluid was taken for karyotype analysis in 323 women and blood samples during pregnancy (209, at birth (105 and from the umbilical cord (97 and breast milk (47 were also collected. These samples were tested for 29 PCB congeners and organochlorine pesticides. Results The concentrations of PCB 153 in these media were relatively low in relation to other studies. Σ PCBs measurements in samples taken during the second trimester of pregnancy, at birth and in the umbilical cord were strongly correlated. Specific measurements of PCB 153 and PCB 180 among those subjects with completed sampling of blood samples from mothers and cord samples were significantly correlated. The concentrations of PCBs and pesticides did not differ in relation to prior spontaneous abortion history. There were no organochlorines present in the amniotic fluid at the current level of quantification. Conclusion Pregnant women from the Western Canada region of Calgary, Alberta are exposed to relatively low concentrations of organochlorines. Measurement of maternal blood during the second trimester of pregnancy can reliably estimate the fetal exposure to PCBs. This estimate is reliable for Group 2 and 3 PCBs as well as PCB 153 and PCB 180. The amniotic fluid does not contain

  11. Amniotic fluid stem cells with low γ-interferon response showed behavioral improvement in Parkinsonism rat model.

    Directory of Open Access Journals (Sweden)

    Yu-Jen Chang

    Full Text Available Amniotic fluid stem cells (AFSCs are multipotent stem cells that may be used in transplantation medicine. In this study, AFSCs established from amniocentesis were characterized on the basis of surface marker expression and differentiation potential. To further investigate the properties of AFSCs for translational applications, we examined the cell surface expression of human leukocyte antigens (HLA of these cells and estimated the therapeutic effect of AFSCs in parkinsonian rats. The expression profiles of HLA-II and transcription factors were compared between AFSCs and bone marrow-derived mesenchymal stem cells (BMMSCs following treatment with γ-IFN. We found that stimulation of AFSCs with γ-IFN prompted only a slight increase in the expression of HLA-Ia and HLA-E, and the rare HLA-II expression could also be observed in most AFSCs samples. Consequently, the expression of CIITA and RFX5 was weakly induced by γ-IFN stimulation of AFSCs compared to that of BMMSCs. In the transplantation test, Sprague Dawley rats with 6-hydroxydopamine lesioning of the substantia nigra were used as a parkinsonian-animal model. Following the negative γ-IFN response AFSCs injection, apomorphine-induced rotation was reduced by 75% in AFSCs engrafted parkinsonian rats but was increased by 53% in the control group after 12-weeks post-transplantation. The implanted AFSCs were viable, and were able to migrate into the brain's circuitry and express specific proteins of dopamine neurons, such as tyrosine hydroxylase and dopamine transporter. In conclusion, the relative insensitivity AFSCs to γ-IFN implies that AFSCs might have immune-tolerance in γ-IFN inflammatory conditions. Furthermore, the effective improvement of AFSCs transplantation for apomorphine-induced rotation paves the way for the clinical application in parkinsonian therapy.

  12. Congenital chylothorax in newborn with trisomy 21.

    Science.gov (United States)

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  13. Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation

    Institute of Scientific and Technical Information of China (English)

    Claudia Gundacker; Helmut Dolznig; Mario Mikula; Margit Rosner; Oliver Brandau; Markus Hengstschl(a)ger

    2012-01-01

    Male infertility is a major public health issue predominantly caused by defects in germ cell development.In the past,studies on the genetic regulation of spermatogenesis as well as on negative environmental impacts have been hampered by the fact that human germ cell development is intractable to direct analysis in vivo.Compared with model organisms including mice,there are fundamental differences in the molecular processes of human germ cell development.Therefore,an in vitro model mimicking human sperm formation would be an extremely valuable research tool.In the recent past,both human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells have been reported to harbour the potential to differentiate into primordial germ cells and gametes.We here discuss the pessibility to use human amniotic fluid stem (AFS) cells as a biological model.Since their discovery in 2003,AFS cells have been characterized to differentiate into cells of all three germ layers,to be genomically stable,to have a high proliferative potential and to be non-tumourigenic.In addition,AFS cells are not subject of ethical concerns.In contrast to iPS cells,AFSs cells do not need ectopic induction of pluripotency,which is often associated with only imperfectly cleared epigenetic memory of the source cells.Since AFS cells can be derived from amniocentesis with disease-causing mutations and can be transfected with high efficiency,they could be used in probing gene functions for spermatogenesis and in screening for male reproductive toxicity.

  14. Huntington's disease: a clinical review

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    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  15. Monosomy 18p

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    Turleau Catherine

    2008-02-01

    Full Text Available Abstract Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate. A small subset of patients, about 10–15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders. In two-thirds of the cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo, in one-third the following are possible: a de novo translocation with loss of 18p, malsegregation of a parental translocation or inversion, or a ring chr18. Parental transmission of the 18p- syndrome has been reported. Cytogenetic analysis is necessary to make a definite diagnosis. Recurrence risk for siblings is low in de novo deletions and translocations, but is significant if a parental rearrangement is present. Deletion 18p can be detected prenatally by amniocentesis or chorionic villus sampling and cytogenetic testing. Differential diagnosis may include a wide number of syndromes with short stature and mild intellectual deficiency. In young children, deletion 18p syndrome may be vaguely evocative of either Turner syndrome or trisomy 21. No specific treatment exists but speech therapy and early educational programs may help to improve the performances of the children. Except for the patients with severe brain malformations, the life expectancy does not seem significantly reduced.

  16. [Demographic characteristics of Down's syndrome in Navarra. Trends of pre and postnatal diagnosis for the period 1991-2009].

    Science.gov (United States)

    Ramos Arroyo, M A; Lizarraga Rojas, M; Hernández Charro, B; Martínez Jaurrieta, M D; Zabaleta Jurio, J; Alonso Sánchez, A

    2013-09-06

    This study describes the development of pre and postnatal diagnosis of sindrome de Down (SD) in the Autonomous Community of Navarre from 1991 to 2009 and assesses its preventive impact in the population, as well as to associated socio-demographic changes. In the absence of a prenatal diagnosis for DS, the change in maternal age from 1991 to 2009 would have caused a 50% increase in births with this disorder. However, the antenatal rate detection of DS increased from 15.8% in 1991-4 to 64.3% in 2006-9, giving rise to a decreasing incidence trend, not statistically significant, during the study period and to a higher mean age of mothers of live births with DS (32.75± 5,02 and 34.8±4,82 years during the first and second periods of the study, respectively). The proportion of young mothers (<35 years) of live births with DS was 66% in 1991-4 and 45% in 2006-9. Close to one fifth of the total population of pregnant women, however, did not want to go through a maternal screening test or amniocentesis. Seventeen per cent of all live births with DS had a positive screening test, but mothers decided to continue pregnancy. These results suggest that, despite the application of new and more sensitive prenatal screening tests, the incidence of DS may still be relatively high in our population, an important factor to be considered for future antenatal preventive programs and adequate postnatal care.

  17. Study on correlation between fetal nasal dysplasia and Down's syndrome%胎儿鼻骨发育异常与唐氏综合征相关性研究

    Institute of Scientific and Technical Information of China (English)

    田晓先; 梁洁梅; 林莲恩; 黎新艳; 李雪芹; 黄飞雪

    2012-01-01

    目的:探讨鼻骨发育异常与唐氏综合征的相关性,评价其在产前诊断中的意义.方法:利用超声对3 850例因各种高危因素行羊水穿刺的胎儿行鼻骨测量检查.结果:正常胎儿的鼻骨随孕周增加而增长,鼻骨长度与孕周成直线相关关系(r =0.67,P<0.05).31例唐氏儿鼻骨缺失或鼻骨发育不良发生率为67.7% (21/31),鼻骨缺失19例,鼻骨发育不良4例( <0.20 cm).结论:鼻骨发育异常与唐氏综合征有密切关系,鼻骨的检查是筛查唐氏综合征的一项重要指标.%Objective; To explore the correlation between fetal nasal dysplasia and Down's syndrome, evaluate its significance in prenatal diagnosis. Methods: Ultrasound was used to measure and examine nasal bones of 3 850 fetuses undergoing amniocentesis because of various high risk factors. Results; Nasal bones of normal fetuses lengthened with gestational weeks, there was a linear correlation between the length of nasal bone and gestational weeks (y =0. 67, P <0. 05) . Among 31 fetuses with Downs syndrome, the incidence of nasal bone loss or nasal dysplasia was 67. 7% (21/31), 19 fetuses with nasal bone loss and 4 fetuses with nasal dysplasia were included ( <0. 20 cm) . Conclusion; Nasal dysplasia is closely related to Downs syndrome, nasal examination is one of the important indexes for screening Downs syndrome.

  18. [Premature birth in patient with cervix incompetence and history of myasthenia gravis].

    Science.gov (United States)

    Fuentealba, Maximiliano; Troncoso, Miguel; Vallejos, Joaquin; Ponce, Sebastian; Villablanca, Nelson; Melita, Pablo

    2013-09-01

    Cervical incompetence it's a dilatation of the cervix during the third trimester of pregnancy that ends with the interruption of it. The incidence in Chile is about 0.1-2% of the total pregnancies and it's one of the causes of preterm birth. A 34 years old pregnant patient. Timectomized at age 18 to treat her miastenia gravis, previously trated with medication, had 4 previous preterm labours all of them under 25 weeks and vaginal births. All fetuses died postpartum. A cerclage was made during the third, fourth and fifth pregnancies. She didn't present hypertension during the gestation and no cervical diameter under 15mm. Since the fourth gestation the following tests are taken: Antifosfolipidic antibodies, APTT,PT. All the results are either normal or negative. Microbial cultures were negative. No amniocentesis was made. A McDonald cervical cerclage was made during pregnancies number 3, 4 and 5 on the 16th week to delay the labor. Also oral micronized progesterone, on a 400mg/24 hours dosis, was administered to avoid preterm birth. On the 24th week the pharmacological treatment started including Intramuscular Betamethasone, 12 mg/24 hours (2 doses), to induce lung maturity on the fetus. It is thought that the administration of progesterone could have improved the situation of the patient, because it acts as a labour repressants. The use of cerclage could have helped, but the factors that may influence the effectiveness of this method are unknown. Perhaps there is some immunologic factor associated with the miastenia gravis that alters the normal course of pregnancy.

  19. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    Science.gov (United States)

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  20. Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood

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    M.F. Messina

    2013-08-01

    Full Text Available Klinefelter syndrome (KS is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21% with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4% were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%, a mosaic form (46 XY/47 XXY was present in 2/14 (14% and a complex aneuploidy (48 XXYY and 48 XXXY was present in the remaining 2/14 (14% patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 % showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood.

  1. The views of Pakistani doctors regarding genetic counseling services - is there a future?

    Science.gov (United States)

    Ashfaq, Myla; Amanullah, Farhana; Ashfaq, Ayesha; Ormond, Kelly E

    2013-12-01

    Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.

  2. Utilizing high-fidelity crucial conversation simulation in genetic counseling training.

    Science.gov (United States)

    Holt, R Lynn; Tofil, Nancy M; Hurst, Christina; Youngblood, Amber Q; Peterson, Dawn Taylor; Zinkan, J Lynn; White, Marjorie Lee; Clemons, Jason L; Robin, Nathaniel H

    2013-06-01

    Genetics professionals are often required to deliver difficult news to patients and families. This is a challenging task, but one that many genetics trainees have limited opportunity to master during training. This is true for several reasons, including relative scarcity of these events and an understandable hesitation of supervisors allowing a trainee to provide such high stakes information. Medical simulation is effective in other health care disciplines giving trainees opportunities of "hands on" education in similar high stakes situations. We hypothesized that crucial conversations simulation would be effective for genetics trainees to gain experience in communication and counseling skills in a realistic clinical scenario. To test this hypothesis, we designed a prenatal counseling scenario requiring disclosure of an abnormal amniocentesis result and discussion of pregnancy management options; we challenged participants to address common counseling questions. Three medical genetics resident physicians and five genetic counseling students participated. Genetics and simulation experts observed the session via live video feed from a different room. A behavioral checklist was completed in real time assessing trainee's performance and documenting medical information discussed. Debriefing immediately followed the session and included simulation and genetics experts and the actor parents. Participants completed open-ended post evaluations. There was a trend towards participants being more likely to discuss issues the child could have while an infant/toddler rather than issues that could emerge as the child with Down Syndrome transitions to adulthood and end of life (P=.069). All participants found the simulation helpful, notably that it was more realistic than role-playing with colleagues.

  3. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  4. Cien cariotipos fetales acreditados en Costa Rica, años 2009 y 2010

    Directory of Open Access Journals (Sweden)

    Isabel Castro-Volio

    2011-12-01

    Full Text Available Objetivo: La identificación de cromosomopatía fetal es un factor importante para el mejor manejo perinatal y pediátrico en los embarazos de alto riesgo. El objetivo de esta publicación es mostrar al personal de salud, los resultados de nuestros ensayos de cariotipo en líquido amniótico, obtenidos desde el momento en que han sido acreditados por el Ente Costarricense de Acreditación y compararlos con los estándares internacionales. Métodos: Se realizó cultivo abierto de 100 muestras recibidas desde enero del 2009 hasta diciembre 2010, provenientes de hospitales de la seguridad social y de servicios de salud privados y la cosecha de los “amniocitos” mediante suspensión enzimática. La indicación de amniocentesis en el 65% de los casos fue por ecografía anormal y el 28% de las veces por edad materna avanzada. Resultados: La cromosomopatía fetal encontrada fue de 35%. Para muestras en cantidad y calidad aceptables, el éxito de los cultivos fue 100% y el tiempo de respuesta fue de 13 días promedio. Estos datos concuerdan con las normas internacionales en esta materia. Además, anualmente participamos satisfactoriamente en rondas de evaluación externa de la calidad organizados por la Cytogenetic European Quality Assessment. Conclusión: En Costa Rica contamos con servicios de perinatología con equipos ecográficos muy sofisticados y con personal altamente especializado, de manera que los defectos anatómicos fetales y otras patologías rara vez pasan desapercibidas. El cariotipo fetal es el complemento indispensable para el abordaje clínico óptimo de estos casos, sobre todo, cuando se cuenta con la calidad que garantizan los ensayos acreditados.

  5. β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

    Science.gov (United States)

    Patel, Ashwin P; Patel, Rupesh B; Patel, Saumyaa A; Vaniawala, Salil N; Patel, Dipika S; Shrivastava, Naina S; Sharma, Narmadeshwar P; Zala, Jayendrasinh V; Parmar, Prakash H; Naik, Madhuben R

    2014-01-01

    Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female had a hemoglobinopathy, her husband was then tested. If hemoglobinopathies were seen in both partners, a genetic mutation study was performed on the couple. Fetal samples were obtained by either chorionic villus sampling (CVS) in 70.6% or amniocentesis in 29.4%. The study included 282 couples. IVS-I-5 (G > C) was the most common mutation in all castes except in the Sindhis and Lohanas, where the 619 bp deletion was the most common. Prenatal testing was informative in 97.9% of the couples. A significant number of couples (41.0%) underwent PND during their first pregnancy. Seven patients with β-thalassemia (β-thal) trait had normal Hb A2 levels. The Hb A2 and Hb F values varied significantly (p  T or G > A), were present in 81.0% of the couples tested. β-Thalassemia mutation frequency varied among the different castes, underlining the need for evolving a testing strategy that considers the caste system. Targeting antenatal clinics could also prove to be a most cost effective way of preventing hemoglobinopathies.

  6. Maternal administration of erythromycin fails to eradicate intrauterine ureaplasma infection in an ovine model.

    Science.gov (United States)

    Dando, Samantha J; Nitsos, Ilias; Newnham, John P; Jobe, Alan H; Moss, Timothy J M; Knox, Christine L

    2010-10-01

    Erythromycin is the standard antibiotic used for treatment of infection with Ureaplasma spp. during pregnancy; however, maternally administered erythromycin may be ineffective at eliminating intra-amniotic ureaplasma infections. We examined whether erythromycin would eradicate intra-amniotic ureaplasma infections in pregnant sheep. At Gestational Day (GD) 50 (term, GD 150), pregnant ewes received intra-amniotic injections of erythromycin-sensitive Ureaplasma parvum serovar 3 (n = 16) or 10B medium (n = 16). At GD 100, amniocentesis was performed; five fetal losses (ureaplasma group, n = 4; 10B group, n = 1) had occurred by this time. Remaining ewes were allocated into treatment subgroups: medium only (n = 7), medium and erythromycin (n = 8), ureaplasma only (Up; n = 6), or ureaplasma and erythromycin (Up/E; n = 6). Erythromycin was administered intramuscularly (500 mg) every 8 h for 4 days (GDs 100-104). Amniotic fluid samples were collected at GD 105. At GD 125, preterm fetuses were surgically delivered, and specimens were collected for culture and histology. Erythromycin was quantified in amniotic fluid by liquid chromatography-mass spectrometry. Ureaplasmas were isolated from the amniotic fluid, chorioamnion, and fetal lung of animals from the Up and Up/E groups, however, the numbers of U. parvum recovered were not different between these groups. Inflammation in the chorioamnion, cord, and fetal lung was increased in ureaplasma-exposed animals compared to controls but was not different between the Up and Up/E groups. Erythromycin was detected in amniotic fluid samples, although concentrations were low (<10-76 ng/ml). This study demonstrates that maternally administered erythromycin does not eradicate chronic, intra-amniotic ureaplasma infections or improve fetal outcomes in an ovine model, potentially because of the poor placental passage of erythromycin.

  7. Maternal and neonatal risk factors for childhood type 1 diabetes: a matched case-control study

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    Harrild Kirsten

    2010-05-01

    Full Text Available Abstract Background An interaction between genetic susceptibility and environmental factors is thought to be involved in the aetiology of type 1 diabetes. The aim of this study was to investigate maternal and neonatal risk factors for type 1 diabetes in children under 15 years old in Grampian, Scotland. Methods A matched case-control study was conducted by record linkage. Cases (n = 361 were children born in Aberdeen Maternity Hospital from 1972 to 2002, inclusive, who developed type 1 diabetes, identified from the Scottish Study Group for the Care of Diabetes in the Young Register. Controls (n = 1083 were randomly selected from the Aberdeen Maternity Neonatal Databank, matched by year of birth. Exposure data were obtained from the Aberdeen Maternity Neonatal Databank. Conditional logistic regression was used to evaluate the association between various maternal and neonatal factors and the risk of type 1 diabetes. Results There was no evidence of statistically significant associations between type 1 diabetes and maternal age, maternal body mass index, previous abortions, pre-eclampsia, amniocentesis, maternal deprivation, use of syntocinon, mode of delivery, antepartum haemorrhage, baby's sex, gestational age at birth, birth order, birth weight, jaundice, phototherapy, breast feeding, admission to neonatal unit and Apgar score (P > 0.05. A significantly decreased risk of type 1 diabetes was observed in children whose mothers smoked at the booking appointment compared to those whose mothers did not, with an adjusted OR of 0.67, 95% CI (0.46, 0.99. Conclusions This case-control study found limited evidence of a reduced risk of the development of type 1 diabetes in children whose mothers smoked, compared to children whose mothers did not. No evidence was found of a significant association between other maternal and neonatal factors and childhood type 1 diabetes.

  8. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

    Energy Technology Data Exchange (ETDEWEB)

    Milunsky, J.M. [Boston Univ. School Med, MA (United States)]|[Tufts-New England Med. Ctr, Boston, MA (United States); Wyandt, H.E.; Amos, J.A. [Boston Univ. School Med., MA (United States)] [and others

    1994-09-01

    We describe a liveborn infant with UPD in association with trisomy 15 mosaicism. Third trimester amniocentesis was performed for suspected IUGR. Results revealed 46,XX/47,XX,+15. The infant initially had respiratory distress and fed poorly. Symmetrical growth retardation, craniofacial dysmorphism, excess nuchal folds, a heart murmur, hypermobile joints, minor limb abnormalities, absent spontaneous movement and an abnormal cry were noted. Further study showed complex heart defects, including VSD and PDA, a left choroid plexus cyst, 13 ribs bilaterally, abnormal optic discs, abnormal visual evoked potentials and abnormal auditory brain stem responses. The infant died at 6 weeks of life from cardio-respiratory complications. Blood chromosomes were normal, 46,XX in 100 cells. Parental blood chromosomes were normal. Skin biopsy revealed 46,XX/47,XX,+15 in 40/50 (80%) cells as did autopsy lung tissue. Molecular analysis of the infant`s blood revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. Microsatellite analysis demonstrated that the extra chromosome originated from a maternal meiosis I nondisjunction. To our knowledge, this is the first liveborn infant with mosaic trisomy 15 and UPD in the diploid cells. Trisomy 15, heretofore, has been regarded as nonviable, even in mosaic form. While maternal UPD is associated with the Prader-Willi syndrome phenotype, mosaicism for trisomy 15 has been reported only when confined to the placenta. UPD in this case generally complicated prediction of the phenotype and raises the question whether all cases with UPD 15 should have more than one tissue studied to determine undetected trisomy 15.

  9. Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of a initial trisomy

    Energy Technology Data Exchange (ETDEWEB)

    Morichon-Delvallez, N.; Segues, B.; Pinson, M.P. [Hopital Necker-Enfants Malades, Paris (France)] [and others

    1994-09-01

    Three cases of maternal uniparental disomy for chromosome 14 (UD 14) have been described in the literature. In all three cases, the UD was found in carriers of Robertsonian translocations (13q14q or 14q and 14q). Here, we report on a new case of UD for chromosome 14 in a fetus in which the UD arose presumably by secondary nondisjunction of a trisomy 14. Prenatal diagnosis was performed on a 40-year-old woman by trans-abdominal chorionic villi sampling. Cytogenetic analysis showed a confined placental mosaicism (CPM) for trisomy 14 (100% of cells trisomic in short term preparations and 20% trisomic in cultured villi). The ultrasound examination was normal and after counselling the parents agreed to continue the pregnancy. Amniocentesis was performed and a normal 46,XX karyotype was found in the 70 cells examined. Molecular analysis of the parental origin of the fetus`s chromosome 14 was performed using microsatellite DNA markers evenly distributed on chromosome 14. Molecular results suggested a maternal heterodisomy. Another ultrasound examination was normal and after genetic counselling based on the small number of cases reported in the literature, the parents decided to keep the pregnancy. At birth, the clinical examination was normal. In conclusion, among the different mechanisms leading to UD, the correction of an initial trisomy by secondary nondisjunction might also be an important one. CPM is observed in about 2% of CVS studies and theoretically 1/3 of corrected trisomies could result in UD for the chromosomal pair that was originally trisomic. In order to provide adequate genetic counselling in these cases, it will be important to undergo molecular studies in the instances of confined placental mosaicism.

  10. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

    Science.gov (United States)

    Kasakyan, Serdar; Lohmann, Laurence; Aboura, Azeddine; Quimsiyeh, Mazin; Menezo, Yves; Tachdjian, Gerard; Benkhalifa, Moncef

    2008-01-01

    Background In routine Assisted Reproductive Technology (ART) men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG). Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9)(p22.1p24) [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1)x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance. PMID:19105807

  11. Prenatal Diagnosis of 7 cases Turner Syndrome%7例Turner综合征的产前诊断

    Institute of Scientific and Technical Information of China (English)

    柳爱华; 宋奉侠; 孙文芝; 张莉

    2013-01-01

    目的探讨Turner综合征不同核型的遗传学特征及产前诊断对Turner综合征检出的临床意义。方法高危孕妇通过羊膜腔穿刺术进行羊水细胞染色体核型分析。结果产前诊断发现Turner综合征7例,其中45,XX 4例;45,X/46,XX/47,XXX 1例;45,X/46, X,+mar 1例;46,X,t(X;14)1例。结论 Turner综合征包括X染色体数目异常和结构畸变等多种核型,均可不同程度导致女性不孕及其他器官功能异常。应做好产前诊断,预防出生缺陷的发生。%Objective To analyze the genetic characteristics of various chromosome karyotypes of Turner Syndrome and the significance of the prenatal diagnosis indications for Turner Syndrome. Methods Amniocentesis was used to analyze fetal chromosomal karyotypes in high-risk pregnant women. Result There were 7cases of Turner Syndrome in the prenatal diagnostic samples. Among these cases, there were 4 cases of 45,X;1 cases of 45,X/46,xx/47,XXX;1 cases of 45,X/46,X,+mar;1 cases of 46,X,t(x;14).Conclusion Turner Syndrome include abnormalities of chromosome number and struction.These abnormalities can lead to infertility and abnormal function of organs. So prenatal diagnosis should be implemented to reduce the birth defects.

  12. Prognostic markers of symptomatic congenital cytomegalovirus infection.

    Science.gov (United States)

    Romanelli, Roberta Maia de Castro; Magny, Jean François; Jacquemard, François

    2008-02-01

    The objective of this research was to identify maternal and fetal characteristics as prognostic markers of congenital cytomegalovirus (CMV) infection. This is a descriptive study of 13 cases of congenital CMV infection referred to Institute de Puericulture et Perinatologie de Paris (IPP) from January 2005 to October 2006. Amniotic fluid puncture was performed to research CMV polimerase chain reaction (PCR). Cordocentesis and cord blood samples at delivery were also analyzed to determinate fetal platelets count, GGT, ASAT, ALAT, CMV-DNA and IgM antibody. Variables of symptomatic and asymptomatic infants were then compared. Data were analyzed by SPSS--15.0. Mean gestational age of amniocentesis was 24.6 weeks and there was no difference of mean viral load in amniotic fluid considering infant features. Mean gestational age of cordocentesis was 26.1 weeks. There were no statistical differences of fetal viral load, IgM, platelets, GGT, ASAT and ALAT analyzed at cordocentesis samples, but at delivery, mean values of IgM and ASAT of fetal blood were increased in symptomatic ones (p= 0.03 for both parameters). When considering groups with normal and abnormal parameters, ASAT of cordon samples was also increased in symptomatic infants (p= 0.02). Sensibility, specificity, positive and negative predictive value of fetal ultrasound anomalies to detect symptomatic infants were, respectively, 80%, 62.5%, 57.1% and 83.3%. Thus, identification of markers of CMV symptomatic infants should be aimed. Prenatal diagnosis, identification and follow up of congenital CMV infected infants are important to consider treatment for symptomatic infants, trying to avoid or reducing some possible sequels.

  13. Prognostic markers of symptomatic congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Roberta Maia de Castro Romanelli

    2008-02-01

    Full Text Available The objective of this research was to identify maternal and fetal characteristics as prognostic markers of congenital cytomegalovirus (CMV infection. This is a descriptive study of 13 cases of congenital CMV infection referred to Institute de Puericulture et Perinatologie de Paris (IPP from January 2005 to October 2006. Amniotic fluid puncture was performed to research CMV polimerase chain reaction (PCR. Cordocentesis and cord blood samples at delivery were also analyzed to determinate fetal platelets count, GGT, ASAT, ALAT, CMV-DNA and IgM antibody. Variables of symptomatic and asymptomatic infants were then compared. Data were analyzed by SPSS - 15.0. Mean gestational age of amniocentesis was 24.6 weeks and there was no difference of mean viral load in amniotic fluid considering infant features. Mean gestational age of cordocentesis was 26.1 weeks. There were no statistical differences of fetal viral load, IgM, platelets, GGT, ASAT and ALAT analyzed at cordocentesis samples, but at delivery, mean values of IgM and ASAT of fetal blood were increased in symptomatic ones (p= 0.03 for both parameters. When considering groups with normal and abnormal parameters, ASAT of cordon samples was also increased in symptomatic infants (p= 0.02. Sensibility, specificity, positive and negative predictive value of fetal ultrasound anomalies to detect symptomatic infants were, respectively, 80%, 62.5%, 57.1% and 83.3%. Thus, identification of markers of CMV symptomatic infants should be aimed. Prenatal diagnosis, identification and follow up of congenital CMV infected infants are important to consider treatment for symptomatic infants, trying to avoid or reducing some possible sequels.

  14. Early Phthalates Exposure in Pregnant Women Is Associated with Alteration of Thyroid Hormones

    Science.gov (United States)

    Tsai, Chih-Hsin; Liang, Wei-Yen; Li, Sih-Syuan; Huang, Han-Bin

    2016-01-01

    Introduction Previous studies revealed that phthalate exposure could alter thyroid hormones during the last trimester of pregnancy. However, thyroid hormones are crucial for fetal development during the first trimester. We aimed to clarify the effect of phthalate exposure on thyroid hormones during early pregnancy. Method We recruited 97 pregnant women who were offered an amniocentesis during the early trimester from an obstetrics clinic in southern Taiwan from 2013 to 2014. After signing an informed consent form, we collected amniotic fluid and urine samples from pregnant women to analyze 11 metabolites, including mono-ethyl phthalate (MEP), mono-(2-ethyl-5-carboxypentyl) phthalate (MECPP), mono-(2-ethylhexyl) phthalate (MEHP), mono-butyl phthalate (MnBP), of 9 phthalates using liquid chromatography/ tandem mass spectrometry. We collected blood samples from each subject to analyze serum thyroid hormones including thyroxine (T4), free T4, and thyroid-binding globulin (TBG). Results Three phthalate metabolites were discovered to be >80% in the urine samples of the pregnant women: MEP (88%), MnBP (81%) and MECPP (86%). Median MnBP and MECPP levels in pregnant Taiwanese women were 21.5 and 17.6 μg/g-creatinine, respectively, that decreased after the 2011 Taiwan DEHP scandal. Results of principal component analysis suggested two major sources (DEHP and other phthalates) of phthalates exposure in pregnant women. After adjusting for age, gestational age, TBG, urinary creatinine, and other phthalate metabolites, we found a significantly negative association between urinary MnBP levels and serum T4 (β = –5.41; p-value = 0.012; n = 97) in pregnant women using Bonferroni correction. Conclusion We observed a potential change in the thyroid hormones of pregnant women during early pregnancy after DnBP exposure. Additional study is necessitated to clarify these associations. PMID:27455052

  15. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Ray, J.H.; Zhou, X.; Pletcher, B.A. [Cornell Univ. Medical College, Manhasset, NY (United States)] [and others

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  16. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

    Directory of Open Access Journals (Sweden)

    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  17. The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial.

    Science.gov (United States)

    Beulen, Lean; van den Berg, Michelle; Faas, Brigitte Hw; Feenstra, Ilse; Hageman, Michiel; van Vugt, John Mg; Bekker, Mireille N

    2016-10-01

    Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range of prenatal tests is expanding due to the development of new techniques such as non-invasive prenatal testing (NIPT), autonomous reproductive decision-making is increasingly challenging. In this study, a randomised controlled trial was conducted to evaluate the effect of a web-based multimedia decision aid on decision-making regarding prenatal testing. The decision aid provided both written and audiovisual information on prenatal tests currently available, that is, prenatal screening by first-trimester combined testing, NIPT and invasive diagnostic testing through chorionic villus sampling or amniocentesis. Furthermore, it contained values clarification exercises encouraging pregnant women to reflect on the potential harms and benefits of having prenatal tests performed. The use of the decision aid improved informed decision-making regarding prenatal testing. Of pregnant women allocated to the intervention group (n=130) 82.3% made an informed choice compared with 66.4% of women in the control group (n=131), P=0.004. As the vast majority of pregnant women made decisions consistent with their attitudes towards having prenatal testing performed, this improvement in informed decision-making could be attributed mainly to an increase in decision-relevant knowledge. This study shows that the implementation of a web-based multimedia decision aid directly facilitates the ultimate goal of prenatal testing for fetal chromosomal abnormalities, which is enabling informed autonomous reproductive choice.

  18. Familial Mediterranean fever and its implications for fertility and pregnancy.

    Science.gov (United States)

    Mijatovic, Velja; Hompes, Peter G A; Wouters, Maurice G A J

    2003-06-10

    Familial Mediterranean fever (FMF) is a recessively inherited disease of episodic fever in combination with severe abdominal pain, pleurisy, arthritis or erysipelas-like skin rashes. The disease is mainly prevalent in Sephardic Jews, Armenians, Turks and Arabs. The gene responsible for FMF was cloned in 1997. The gene expresses a protein called pyrin which is believed to play a role in the downregulation of mediators of inflammation. Several mutations have been identified of which the homozygous form of the M694V mutation is associated with a more severe expression of FMF. Prophylactic administration of colchicine is effective in relieving most patients from their attacks and preventing the development of amyloidosis, which usually leads to end-stage renal disease. Unfortunately, there is little awareness of the disease in gynaecological practice although a FMF full blown episode may mimic an acute abdominal calamity suggesting several possible gynaecological diagnoses. FMF is also associated with subfertility. In females, infertility was mainly related to oligomenorrhea although the causes remain unclear. In male FMF patients, progression of the disease may induce testicular impairment, consequently affecting spermatogenesis. Some controversy exists as to the adverse effects of colchicine on sperm production and function although the impression is that the occurrence of sperm pathology in FMF patients, using the recommended dosage of colchicine, is very low. In pregnant FMF patients, an increased occurrence of miscarriage has been found. However, the mechanisms involved remain unclear. Although colchicine is a mitotic inhibitor and transplacental crossing of colchicine has been demonstrated, no increased risk of foetal abnormalities in colchicine-treated pregnant FMF patients has been found. Therefore, amniocentesis should not be done for reassurance alone.

  19. The girl child and the family.

    Science.gov (United States)

    Mojumdar, M

    The appalling conditions of the Hindu, Muslim, Christian, and Sikh female children in India are emphasized. There is systematic neglect and exploitation of girls from birth through death. Dowries are still expected at the time of marriage and for years to come, regardless of the illegality. Within marriage, there is cruelty and insult, and even bride killing, known as dowry death. Parents can be accomplices in permitting the injury to begin or continue with impunity. Patience and tolerance is expected of daughters; the husband is the commanding presence. Spinsterhood is shameful. Suicide is a viable option for widowhood. Over the 40 years of freedom from British rule, antiquated norms and superstitions persist. Fundamentalism in increasing. A daughter is pitied at birth and a mother is blamed. Mothers-in-law are notorious for the blaming. These beliefs occur in spite of scientific evidence that it is the male who carries the chromosome in the sperm for sex determination. A modern practice helps to perpetuate female infanticide: amniocentesis and abortion. When food shortages occur, the pecking order favors males over pregnant women and children. Illiteracy is high among girls, who are kept home and given household chores. Better education is given to males even in middle class homes. Peer pressure and societal attitudes maintain the subservience of females. Orphanages are filled with unwanted female babies. The rape of a girl is considered shameful for life, while the rape of a boy is disregarded as unfortunate and forgotten. Expectations are that boys will be decision makers and girls can cope with domestic matters. The brainwashing to inferiority continues until the son marries and is then perpetuated.

  20. chromosome karyotype analysis of pregnant amniotic fluid in Qingdao area 1206 cases%青岛地区1206例孕妇羊水染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    姜楠; 俞冬熠; 韩美艳

    2012-01-01

    Objective: Evaluation of amniotic fluid cells karyotype analysis on second trimester of pregnant women at risk for prenatal diagnosis. Method: From 19 to 23 weeks of pregnancy in pregnant women at risk of amniocentesis and cell culture karyotype analysis. Result: Amniotic fluid cell culture success rate of 99. 9% , detection of chromosome abnormalities in 47 cases, including 23 cases of trisomy 21, 18 — trisomy 2 cases, 5 cases with sex chromosome abnormalities, trisomy 22 in 1 cases and other structural chromosomal abnormality in 16 cases. Conclusion; Pregnant amniotic fluid cell karyotype, can be safe and effective for fetal chromosome abnormalities for prenatal diagnosis, chromosome disease patients to reduce the birth has an important guiding significance.%目的 评价羊水细胞的染色体核型分析对妊娠中期的高危孕妇进行产前诊断的意义.方法 对妊娠19~ 23周的高危孕妇进行羊膜腔穿刺术并进行细胞培养染色体核型分析.结果 羊水细胞培养成功率99.9%,检出染色体异常47例,包括21-三体23例,18-三体2例,性染色体异常5例,22-三体1例以及其他染色体结构异常16例.结论 孕妇羊水细胞染色体核型检查,能安全有效的对胎儿染色体异常进行产前诊断,对于减少具有染色体病患儿的出生具有重要的指导意义.

  1. Rapid detection of autosomal aneuploidy using microsatellite markers

    Energy Technology Data Exchange (ETDEWEB)

    Ray, P.N.; Teshima, I.E. [Hospital for Sick Children, Ontario (Canada); Winsor, E.J.T. [Toronto Hospital, Ontario (Canada)] [and others

    1994-09-01

    Trisomy occurs in at least 4% of all clinically recognized pregnancies, making it the most common type of chromosome abnormality in humans. The most commonly occurring trisomies are those of chromosomes 13, 18, 21 and aneuploidy of X and Y, accounting for about 0.3% of all newborns and a much higher percentage of conceptuses. In Canada, prenatal chromosome analysis by amniocentesis is offered to those women {ge} 35 years of age at the time of delivery or equivalent risk by maternal serum screen. We are developing a rapid molecular diagnostic test to detect the most common autosomal aneuploidies in prenatal and neonatal samples. The tests makes use of highly polymorphic short tandem repeat markers labeled with fluorescent tags which allow analysis on a GENESCANNER automated fragment analyzer (ABI). Multiple polymorphic markers have been selected on each of chromosomes 13, 18 and 21. At a given locus, trisomic fetuses/neonates will have either three alleles or two alleles with one allele having twice the intensity of the other. Unaffected individuals have two equal intensity alleles. We are conducting a blind study that will compare the detection efficiencies of FISH analysis on uncultured cells and the molecular method on confirmation amniotic fluid samples collected at the time of termination of affected fetuses. Results on cultured amniocytes from one such patient confirmed that trisomy 21 can be detected. FISH was not done on this sample. In addition, detection efficiency of the molecular method in whole blood samples from affected neonates is also being studied. To date, two such samples have been tested, one with trisomy 13 and one with trisomy 18, and both samples were diagnosed correctly. Preliminary results suggest that this method may provide a valuable tool for the rapid diagnosis of aneuploidy.

  2. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

    Directory of Open Access Journals (Sweden)

    Garas Antonios

    2009-01-01

    Full Text Available Abstract Background The heterogeneous group of small supernumerary marker chromosomes (sSMCs presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocentesis. The sSMC was characterized by various molecular cytogenetic techniques and determined to be a r(20 chromosome. After genetic counseling, the parents decided to continue the pregnancy, and a boy with minor phenotypic variants was born after 39 weeks of pregnancy. The case is compared with four other cases of prenatally detected r(20 mosaicism. Results Here we describe a 3 months old male child with normal pre- and postnatal development and with a de novo ring supernumerary marker chromosome in amniocytes cultures. Using new fluorescence in situ hybridization (FISH techniques, three distinguishable sSMCs (cryptic mosaicism, all derived from chromosome 20, were observed, including ring and minute chromosomes. This heterogeneity was impossible to detect by the conventional G-banding technique or conventional FISH technique that were used before the application of new FISH techniques (subcentromere-specific multicolor-FISH [subcenM-FISH] and a probe, specific for the 20p12.2 band. The sSMC present in 25% of the cells was present as r(20(::p12.2~12.3->q11.1::5/r(20;20(::p12.1->q11.1::q11.1 >p12.1::2/min(20;20(:p12.1->q11.1::q11.1->p12.1:1. The final karyotype was 47,XY,+r(20[25%]/46,XY[75%]. Conclusion We emphasize the importance of application of molecular cytogenetics in a prenatally diagnostic laboratory and description of more cases to enable a better genetic counseling and risk evaluation.

  3. Cytogenetics and the evolution of medical genetics.

    Science.gov (United States)

    Ferguson-Smith, Malcolm A

    2008-08-01

    Interest in cytogenetics may be traced to the development of the chromosomal theory of inheritance that emerged from efforts to provide the basis for Darwin's theory "On the origin of species by means of natural selection." Despite their fundamental place in biology, chromosomes and genetics had little impact on medical practice until the 1960s. The discovery that a chromosomal defect caused Down syndrome was the spark responsible for the emergence of medical genetics as a clinical discipline. Prenatal diagnosis of trisomies, biochemical disorders, and neural tube defects became possible and hence the proliferation of genetic counseling clinics. Maternal serum screening for neural tube defects and Down syndrome followed, taking the new discipline into social medicine. Safe amniocentesis needed ultrasound, and ultrasound soon found other applications in obstetrics, including scanning for fetal malformations. Progress in medical genetics demanded a gene map, and cytogeneticists initiated the mapping workshops that led to the human genome project and the complete sequence of the human genome. As a result, conventional karyotyping has been augmented by molecular cytogenetics, and molecular karyotyping has been achieved by microarrays. Genetic diagnosis at the level of the DNA sequence is with us at last. It has been a remarkable journey from disease phenotype to karyotype to genotype, and it has taken <50 years. Our mission now is to ensure that the recent advances such as prenatal screening, microarrays, and noninvasive prenatal diagnosis are available to our patients. History shows that it is by increased use that costs are reduced and better methods discovered. Chromosome research has been behind the major advances in our field, and it will continue to be the key to future progress, not least in our appreciation of chromosomal variation and its importance as a mechanism in Darwinian evolution.

  4. Fetal cells in maternal blood: state of the art for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Ho, S S; O'Donoghue, K; Choolani, M

    2003-09-01

    In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non-invasive methods for obtaining intact fetal cells would allow accurate prenatal diagnosis for aneuploidy and single gene disorders, without the attendant risks associated with invasive testing, and would increase the uptake of prenatal diagnosis by women at risk. Isolation of fetal erythroblasts from maternal blood should allow accurate non-invasive prenatal diagnosis of both aneuploidies and monogenic disorders. Expression of gamma-globin in maternal erythroblasts and the inability to locate fetal erythroblasts reliably in all pregnancies have prevented its clinical application. In the absence of a highly specific fetal cell marker, enrichment, identification and diagnosis--the 3 components of non-invasive prenatal diagnosis--have clearly defined objectives. Since fetal cells are rare in maternal blood, the sole purpose of enrichment is yield--to recover as many fetal cells as possible--even if purity is compromised at this stage. In contrast, the primary goal of identification is specificity; absolute certainty of fetal origin is required at this stage if the ultimate objective of diagnosis, accuracy, is to be achieved. This review summarises the current state of the art of non-invasive prenatal diagnosis using fetal erythroblasts enriched from maternal blood.

  5. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Lozzio, C.B.; Bamberger, E.; Anderson, I. [Univ. of Tennessee, Knoxville, TN (United States)] [and others

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  6. Endothelin-1 and macrophage colony-stimulating factor are co-localized in human amnion membrane cells and secreted into amniotic fluid.

    Science.gov (United States)

    Fried, Gabriel; Sand, Anna; Ostlund, Eva; Andersson, Eva; Byström, Birgitta; Ståbi, Berit

    2003-11-01

    We have examined the cellular localization and human amniotic fluid content of endothelin-1 (ET-1) and macrophage colony-stimulating factor (M-CSF). The study material consisted of amniotic fluid from 20 patients referred for amniocentesis, and placental samples from normal deliveries. ET-1 and M-CSF were analysed by radioimmunoassay and enzyme-linked immunosorbent assay respectively. The cellular localization of ET-1 and M-CSF in the amnion membranes was analysed by double-labelling immunocytochemistry using fluorescein isothiocyanate- and Cy3-labelled secondary antibodies. Release of ET-1 and M-CSF was studied in cultured amniocytes. We found that the mean +/- SD concentrations of ET-1 and M-CSF in fetal amniotic fluid were 45.6 +/- 17.3 pmol/l (range 16.8-85.5) and 7323 +/- 3415 ng/l (range 2640-12 110) respectively. Double-labelling immunocytochemistry showed that both M-CSF and ET-1 were co-localized in the same cells to a high extent. Further analysis revealed that levels of M-CSF, but not ET-1, were significantly correlated with pregnancy length. Both M-CSF and ET-1 were released from cultured amniocytes in response to interleukin-1. These findings show that ET-1 and M-CSF are partly co-localized to specific cells in the human amniotic membrane. As both M-CSF and ET-1 were released from cultured amniocytes in vitro, this suggests that they both may be secreted into fetal amniotic fluid in vivo as well.

  7. Chromosome karyotype analysis of 1341 amniotic fluid samples%1341例羊水细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    黄郁晶; 王岳平

    2013-01-01

    目的 探讨羊水细胞培养染色体核型分析技术在细胞遗传学产前诊断中的应用及意义.方法 1341例妊娠17~28周的孕妇在超声引导下行羊膜腔穿刺术,进行细胞培养及染色体核型分析.结果 1341例标本一次培养成功1330例,培养成功率为99.2%.共检出异常核型90例,异常率为6.8%,其中21-三体24例,18-三体7例,其他异常核型59例.结论 羊水细胞学检查作为一项产前诊断技术对于指导优生优育,降低缺陷儿的出生具有重要意义.%Objective:To investigate the significance of chromosome karyotype analysis of amniotic fluid cells in prenatal diagnosis.Methods:Amniocentesis by guided B-ultrasound was performed on 1341 cases of pregnant women.Chromosome karyotypes from amniotic fluid samples were then analyzed.Results:1330 cells were cultured successfully,and the success rate of primary culture was 99.2%.90 abnormal karyotypes were detected,including 24 21-trisomes,7 18-trisomes.Conclusion:Chromosome karyotype analysis of amniotic fluid cells has great significance in prenatal diagnosis.

  8. Fetal extracardiac anomalies associated with congenital cardiac diseases

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    Yi, Bum Ha; Cho, Jung Yeon; Lee, Young Ho; Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2004-06-15

    To evaluate the incidence of associated extracardiac anomalies in fetuses with congenital heart defects on fetal echocardiography, and to estimate the incidence of chromosomal abnormalities according to the extracardiac anomalies. From Jan. 1999 to Dec. 2001, 101 fetuses with prenatally diagnosed extracardiac anomalies and congenital cardiac diseases were selected for study. The mean gestational age at the time of the ultrasound exam was about 25 weeks. Associated extracardiac anomalies were classified into CNS, face and neck, thorax, abdomen, genitourinary system, musculoskeletal, other and multi-systemic anomalies groups. Chromosomal studies including chorionic villi sampling, amniocentesis, cordocentesis, and postnatal exam were correlated. Musculoskeletal anomalies were the most commonly associated extracardiac anomalies (n=28, 27.7%). Abdominal anomaly (n=26, 25.7%), central nervous system anomaly (n=25, 24.8%), genitourinary anomaly(n=12, 11.9%), thoracic anomaly (n=4, 4%), face and neck anomaly (n=3, 3%) were found. Twenty eight fetuses showed other anomalies (n=28, 27.7%). Multi-systemic anomalies were also common (n=20, 19.8%). Fetal anomalies involving two systems were noted in 15 fetuses, and anomalies of more than three systems were not uncommon (5 fetuses). Chromosomal study of 38 fetuses revealed 19 fetuses with abnormal karyotypes (50%). For 19 fetuses with abnormal karyotypes, central nervous system anomalies and musculoskeletal anomalies were the most frequently associated with extracardiac abnormalities (n=9). Multi-systemic anomalies were associated in 9 of the 19 fetuses. In fetuses with cardiac defects, the musculoskeletal, abdomen and CNS anomalies were commonly associated with extracardiac anomalies. Various extracardiac anomalies such as, head and neck anomalies, CNS anomalies, musculoskeletal anomalies, and multi-organ anomalies were highly correlated with chromosomal abnormalities, and so this relationship requires chromosomal study.

  9. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

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    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  10. Elevated amniotic fluid amino acid levels in fetuses with gastroschisis

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    A. Kale

    2006-08-01

    Full Text Available Our objective was to measure maternal plasma and amniotic fluid amino acid concentrations in pregnant women diagnosed as having fetuses with gastroschisis in the second trimester of pregnancy. Twenty-one pregnant women who had fetuses with gastroschisis detected by ultrasonography (gastroschisis group in the second trimester and 32 women who had abnormal triple screenings indicating an increased risk for Down syndrome but had healthy fetuses (control group were enrolled in the study. Amniotic fluid was obtained by amniocentesis, and maternal plasma samples were taken simultaneously. The chromosomal analysis of the study and control groups was normal. Levels of free amino acids and non-essential amino acids were measured in plasma and amniotic fluid samples using EZ:fast kits (EZ:fast GC/FID free (physiological amino acid kit by gas chromatography (Focus GC AI 3000 Thermo Finnigan analyzer. The mean levels of essential amino acids (histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine and non-essential amino acids (alanine, glycine, proline, and tyrosine in amniotic fluid were found to be significantly higher in fetuses with gastroschisis than in the control group (P < 0.05. A significant positive correlation between maternal plasma and amniotic fluid concentrations of essential and nonessential amino acids was found only in the gastroschisis group (P < 0.05. The detection of significantly higher amino acid concentrations in the amniotic fluid of fetuses with a gastroschisis defect than in healthy fetuses suggests the occurrence of amino acid malabsorption or of amino acid leakage from the fetus into amniotic fluid.

  11. Application of FISH in prenatal diagnosis of chromosome number abnormality in amniotic fluid cells%FISH在产前羊水细胞染色体数目异常诊断中的应用观察

    Institute of Scientific and Technical Information of China (English)

    张艳丽; 李华锋; 高刚

    2011-01-01

    Objective To observe effect of fluorescence in situ hybridization(FISH) on prenatal diagnosis of abnormal number of chromosomes in amniotic fluid cells. Methods The amniotic fluid of 1 121 cases of pregnant women with down syndrome screening in high-risk or age higher than 35 years old, were got by amniocentesis, and udenvent rapid prenatal diagnosis by FISH. Then the G banding karyotypes from standard cytogenetic analysis after cultured amniotic fluid cells were compared to the FISH results. Results 16 cases were found abnormal result, including 7 cases of trisomy 21 , 4 cases of trisomy 21, and other 5 cases with abnormal. It was consistent with G banding karyotypes results. Conclusion Prenatal diagnosis of chromosome humber sbnormality by FISH is satisfactory.%目的 观察应用荧光原位杂交( FISH)技术产前诊断羊水细胞染色体数目异常的效果.方法 唐氏综合征筛查高危或高龄(≥35岁)孕妇1 121例,经腹部穿刺抽取羊水,应用FISH技术进行羊水细胞染色体数目检测,并将其结果与羊水细胞常规G显带核型分析结果作比较.结果 均获得诊断结果,发现16例异常胎儿,其中7例为21三体,4例为18三体,5例为其他异常.FISH检测与核型分析结果一致.结论 用FISH产前诊断羊水细胞染色体数目异常效果满意.

  12. 羊水表皮生长因子与胎肺成熟度的关系%Amniotic Fluid Epidermal Growth Factor and Fetal Pulmonary Maturation

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    施长春; 费小阳; 陈松涛

    2000-01-01

    Objective To evaluate the relationship between amniotic fluid (AF) epidermalgrowth factor (EGF) concentration and fetal pulmonary maturation. Methods Lecithin - sphin-gomyelin ratio (L/S) and EGF were measured in amniotic fluid from women(n = 138,21~42 weeks'gestation) undergoing amniocentesis by TLC and RIA. Results The AF L/S ratio and EGF concen-tration increased linearly with Gestational age(GA) ( r = 0.8t3 and 0.87, respectively, P < 0.01 ).There was a strong correlation between the AF L/S ratio and EGF( r = 0.76, P < 0. 001 ). Conclu-sion There are a confirmed relationship between AF EGF levels and fetal pulmonary maturation.%目的 探讨羊水表皮生长因子浓度与胎儿肺泡成熟度的关系。方法 对168例胎龄在21~42周的孕妇,采用羊膜腔穿刺术采集羊水。分别以薄层层析法和放射免疫法测定卵磷脂/鞘磷脂比值(L/S)和表皮生长因子(EGF)。结果 羊水L/S比值及EGF浓度均与胎龄呈正相关(r值分别为0.86和0.87,P值均<0.01)。羊水EGF浓度与L/S比值有显著的相关性(r=0.76,P<0.001)。结论羊水表皮生长因子与胎儿肺泡成熟度密切相关。

  13. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

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    Quimsiyeh Mazin

    2008-12-01

    Full Text Available Abstract Background In routine Assisted Reproductive Technology (ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9(p22.1p24 [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.

  14. Early Phthalates Exposure in Pregnant Women Is Associated with Alteration of Thyroid Hormones.

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    Po-Chin Huang

    Full Text Available Previous studies revealed that phthalate exposure could alter thyroid hormones during the last trimester of pregnancy. However, thyroid hormones are crucial for fetal development during the first trimester. We aimed to clarify the effect of phthalate exposure on thyroid hormones during early pregnancy.We recruited 97 pregnant women who were offered an amniocentesis during the early trimester from an obstetrics clinic in southern Taiwan from 2013 to 2014. After signing an informed consent form, we collected amniotic fluid and urine samples from pregnant women to analyze 11 metabolites, including mono-ethyl phthalate (MEP, mono-(2-ethyl-5-carboxypentyl phthalate (MECPP, mono-(2-ethylhexyl phthalate (MEHP, mono-butyl phthalate (MnBP, of 9 phthalates using liquid chromatography/ tandem mass spectrometry. We collected blood samples from each subject to analyze serum thyroid hormones including thyroxine (T4, free T4, and thyroid-binding globulin (TBG.Three phthalate metabolites were discovered to be >80% in the urine samples of the pregnant women: MEP (88%, MnBP (81% and MECPP (86%. Median MnBP and MECPP levels in pregnant Taiwanese women were 21.5 and 17.6 μg/g-creatinine, respectively, that decreased after the 2011 Taiwan DEHP scandal. Results of principal component analysis suggested two major sources (DEHP and other phthalates of phthalates exposure in pregnant women. After adjusting for age, gestational age, TBG, urinary creatinine, and other phthalate metabolites, we found a significantly negative association between urinary MnBP levels and serum T4 (β = -5.41; p-value = 0.012; n = 97 in pregnant women using Bonferroni correction.We observed a potential change in the thyroid hormones of pregnant women during early pregnancy after DnBP exposure. Additional study is necessitated to clarify these associations.

  15. Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.

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    Sujana Ghanta

    Full Text Available BACKGROUND: Screening tests for Trisomy 21 (T21, also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA. METHODS AND FINDINGS: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE. This approach was used to blindly analyze plasma DNA obtained from peripheral blood from 40 high risk pregnant women, in adherence to a Medical College of Wisconsin Institutional Review Board approved protocol. Tandem SNP sequences were informative when the mother was heterozygous and a third paternal haplotype was present, permitting a quantitative comparison between the maternally inherited haplotype and the paternally inherited haplotype to infer fetal chromosomal dosage by calculating a Haplotype Ratio (HR. 27 subjects were assessable; 13 subjects were not informative due to either low DNA yield or were not informative at the tandem SNP sequences examined. All results were confirmed by a procedure (amniocentesis/CVS or at postnatal follow-up. Twenty subjects were identified as carrying a disomy 21 fetus (with two copies of chromosome 21 and seven subjects were identified as carrying a T21 fetus. The sensitivity and the specificity of the assay was 100% when HR values lying between 3/5 and 5/3 were used as a threshold for normal subjects. CONCLUSIONS: In summary, a targeted approach, based on calculation of Haplotype Ratios from tandem SNP sequences combined with a sensitive and quantitative DNA measurement technology can be used to accurately detect fetal

  16. The Clinical Significance of Digital Examination-Indicated Cerclage in Women with a Dilated Cervix at 14 0/7 - 29 6/7 Weeks

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    Hyun Sun Ko, Yun Seong Jo, Ki Cheol Kil, Ha Kyun Chang, Yong-Gyu Park, In Yang Park, Guisera Lee, Sajin Kim, Jong Chul Shin

    2011-01-01

    Full Text Available Objective. This study was to compare pregnancy outcomes between cerclage and expectant management in wemen with a dilated cervix. Design. Retrospective multicenter cohort study. Setting. Five hospitals of Catholic University Medical Center Network in Korea. Population. A total of 173 women between 14 0/7 and 29 6/7 weeks' gestation with cervical dilation of 1 cm or greater by digital examination. Methods. Pregnancy outcomes were compared according to cerclage or expectant management, with the use of propensity-score matching. Main Outcome Measures. Primary outcome was time from presentation until delivery (weeks. Secondary outcomes were gestational age at delivery, neonatal survival, morbidity, preterm birth, and so on.Results. Of 173 women, 116 received a cerclage (cerclage group, and 57 were managed expectantly without cerclage (expectant group. Cervical dilation at presentation, and the use of amniocentesis performed to exclude subclinical chorioamnionitis differed between two groups. In the overall matched cohort, there was significant difference in the time from presentation until delivery (cerclage vs. expectant group, 10.6±6.2 vs. 2.9±3.2 weeks, p <0.0001. While there was no significant difference in the neonatal survival between two groups, there werelower neonatal morbidity as well as higher pregnancy maintenance rate at 28, 32, 34 and 37 weeks' gestation in the cerclage group, compared with the expectant group.Conclusion. This study suggests that digital examination-indicated cerclage appears to prolong gestation and decrease neonatal morbidity, compared with expectant management in women with cervical dilation between 14 0/7 and 29 6/7 weeks.

  17. Presenting Twins Are Exposed to Higher Levels of Inflammatory Mediators than Nonpresenting Twins as Early as the Midtrimester of Pregnancy.

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    Seung Mi Lee

    Full Text Available Presenting twins are less likely to develop respiratory complications than non-presenting twins. The precise reason for this difference is not well understood, although it is known that the presence of inflammation reduces the risk of respiratory morbidity at birth. To further investigate this association, we compared the concentrations of inflammatory biomarkers in mid-trimester amniotic fluid (AF of asymptomatic twin pairs.The study population consisted of women with twin pregnancies who underwent mid-trimester amniocentesis (15-20 weeks for routine clinical indications and delivered at term. AF was analyzed for pro-inflammatory cytokines (IL-1β, IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, IL-15, IFN-γ, TNF-α, matrix metalloproteinases (MMP-1, MMP-2, MMP-3, MMP-8, MMP-9, MMP-12, and chemokines (Complement Factor D/Adipsin, Serpin E1/PAI-1, Adiponectin/Acrp30, CRP, CCL2/MCP-1, Leptin, Resistin using Luminex Performance Assay multiplex kits. Data were analyzed using Wilcoxon signed rank test.A total of 82 twin pairs were enrolled. Mid-trimester AF concentrations of IL-8, MMP-8, CRP, MCP-1, leptin, and resistin were significantly higher in the presenting twin compared with the non-presenting twin (p<0.05 for each. Differences in AF concentrations of IL-8, MMP-8, and CRP persisted after adjustment for the fetal growth restriction at the time of birth and chorionicity.These data suggest that, as early as the mid-trimester, the presenting fetus in an otherwise uncomplicated twin pregnancy is exposed to higher levels of pro-inflammatory mediators (especially IL-8, MMP-8, and CRP than its non-presenting co-twin. Whether this pro-inflammatory milieu reduces the risk of neonatal respiratory morbidity at birth or has other functional implications needs to be further evaluated.

  18. Diagnóstico prenatal de mosaicismo 45,X/46,XX con presencia del gen SRY. Presentación de un caso

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    Pedro Alí Díaz-Véliz Jiménez

    2013-10-01

    Full Text Available El cariotipo más frecuente del Síndrome de Turner es 45,X, aunque también puede presentarse como mosaico 45,X/46,XX. En el Centro Provincial de Genética Médica de Cienfuegos se le realizó la amniocentesis a una gestante de 42 años de edad, detectándose un mosaico de Síndrome de Turner (45,X/46,XX. Por ultrasonido se diagnosticó un varón, por lo que se envió una muestra de líquido amniótico al Centro Nacional de Genética Médica para corroborarlo y se indicó realizar estudio del gen SRY, cuyo resultado fue positivo. La gestante decidió interrumpir el embarazo. El reporte de anatomía patológica informó de cadáver de feto de 25,3 semanas de gestación, con pene y bolsas escrotales morfológicamente normales, con alteraciones por quistificación e hipoplasia de la próstata y vesículas seminales y ausencia testicular. En la literatura se reportan casos de varones 46,XX, como poco frecuentes y se refieren menos aún aquellos donde se combina un mosaico 45,X/46,XX con presencia del gen SRY, hecho en que radica el interés del caso. En este artículo se expone el resultado de un diagnóstico prenatal de esta aberración cromosómica de tan baja frecuencia.

  19. Skeletal abnormalities in fetuses with Down`s syndrome: a radiographic post-mortem study

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    Stempfle, N.; Brisse, H. [Department of Radiology, R. Debre Hospital, Paris (France); Huten, Y.; Fredouille, C.; Nessmann, C. [Department of Developmental Biology, R. Debre Hospital, Paris (France)

    1999-09-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down`s syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down`s syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks` gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down`s syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.) With 7 figs., 1 tab., 25 refs.

  20. The Application of Clinical Genetics

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    Maurer MH

    2012-02-01

    Full Text Available Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year of publication. The journal has had a change of Editor-in-Chief: Dr David H Tegay stepped down and I was appointed to serve as the new Editor-in-Chief. As his successor, I thank Dr Tegay for his great work for the journal. I hope I can continue his successful editorial contributions. Moreover, I thank the many reviewers for their sustained support of the journal.The Application of Clinical Genetics is dedicated to open access publishing – as all Dove Press journals are. This means that authors will be charged for the publication process, but the acceptance of a manuscript is based solely on its scientific quality. This is what I will be responsible for as Editor-in-Chief. The team at Dove Press is a constant help with all administrative duties concerning peer reviewal, and I want to express my thanks for their prompt and reliable help. The field of clinical genetics is facing new challenges with the broad availability of large-scale screening methods for gene mutations, such as high-throughput sequencing and biochips. This means that ethical issues regarding the handling of genetic information must be addressed, both for the individual and for society.1–3 For example, sequencing of cell-free, fetal nucleic acids in the maternal blood to locate fetal aneuploidy, especially trisomy 21, may become broadly available soon, with even faster results than conventional methods such as amniocentesis.

  1. Significant performance variation among PCR systems in diagnosing congenital toxoplasmosis in São Paulo, Brazil: analysis of 467 amniotic fluid samples

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    Thelma Suely Okay

    2009-03-01

    Full Text Available INTRODUCTION: Performance variation among PCR systems in detecting Toxoplasma gondii has been extensively reported and associated with target genes, primer composition, amplification parameters, treatment during pregnancy, host genetic susceptibility and genotypes of different parasites according to geographical characteristics. PATIENTS: A total of 467 amniotic fluid samples from T. gondii IgM- and IgG-positive Brazilian pregnant women being treated for 1 to 6 weeks at the time of amniocentesis (gestational ages of 14 to 25 weeks. METHODS: One nested-B1-PCR and three one-round amplification systems targeted to rDNA, AF146527 and the B1 gene were employed. RESULTS: Of the 467 samples, 189 (40.47% were positive for one-round amplifications: 120 (63.49% for the B1 gene, 24 (12.69% for AF146527, 45 (23.80% for both AF146527 and the B1 gene, and none for rDNA. Fifty previously negative one-round PCR samples were chosen by computer-assisted randomization analysis and re-tested (nested-B1-PCR, during which nine additional cases were detected (9/50 or 18%. DISCUSSION: The B1 gene PCR was far more sensitive than the AF146527 PCR, and the rDNA PCR was the least effective even though the rDNA had the most repetitive sequence. Considering that the four amplification systems were equally affected by treatment, that the amplification conditions were optimized for the target genes and that most of the primers have already been reported, it is plausible that the striking differences found among PCR performances could be associated with genetic diversity in patients and/or with different Toxoplasma gondii genotypes occurring in Brazil. CONCLUSION: The use of PCR for the diagnosis of fetal Toxoplasma infections in Brazil should be targeted to the B1 gene when only one gene can be amplified, preferably by nested amplification with primers B22/B23.

  2. Levels of Adipokines in Amniotic Fluid and Cord Blood Collected from Dichorionic-Diamniotic Twins Discordant for Fetal Growth.

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    Seung Mi Lee

    Full Text Available To compare the concentrations of adipokines in amniotic fluid (AF and cord blood collected from discordant dichorionic-diamniotic (DCDA twin fetuses.The study population included DCDA twins discordant for fetal growth (birth weight difference >10% who either underwent mid-trimester amniocentesis for routine clinical indication (Cohort 1 or whose amniotic fluid was collected at the time of delivery (Cohort 2. In both cohorts, cord blood was collected at delivery.A total of 92 twin pairs were enrolled (n = 49 in Cohort 1; n = 43 in Cohort 2. In Cohort 1, the concentrations of adiponectin (median, 68.5 ng/mL vs 61.4 ng/mL; p<0.05 and leptin (median, 13.9 ng/mL vs 11.2 ng/mL; p<0.1 in mid-trimester AF were significantly higher in smaller compared with larger twins. In Cohort 2, the concentration of serpin E1 (median, 246.0 ng/mL vs 182.8 ng/mL; p<0.01 in AF at delivery was significantly higher in smaller twins, but no difference was noted in adiponectin and leptin concentrations. Levels of adiponectin (median, 10425.5 ng/mL vs 11552.0 ng/mL; p<0.005 and leptin (median, 2.1 ng/mL vs 2.6 ng/mL; p<0.005 were significantly lower in the cord blood of smaller twins whereas cord blood concentrations of serpin E1 (median, 15.5 ng/mL vs 13.3 ng/mL; p<0.05 was higher in the smaller twins.In discordant DCDA twin pairs, concentrations of adiponectin, leptin, and serpin E1 in mid-trimester AF, AF at delivery, and cord blood at birth vary significantly but predictably between the smaller and larger twins.

  3. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

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    Bhola Shama L

    2008-05-01

    Full Text Available Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164

  4. Characteristics of human amniotic fluid mesenchymal stem cells and their tropism to human ovarian cancer.

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    Liru Li

    Full Text Available The mesenchymal stem cells (MSCs derived from amniotic fluid (AF have become an attractive stem cells source for cell-based therapy because they can be harvested at low cost and avoid ethical disputes. In human research, stem cells derived from AF gradually became a hot research direction for disease treatment, specifically for their plasticity, their reduced immunogenicity and their tumor tropism regardless of the tumor size, location and source. Our work aimed to obtain and characterize human amniotic fluid mesenchymal stem cells (AFMSCs and detect their ovarian cancer tropsim in nude mice model. Ten milliliters of twenty independent amniotic fluid samples were collected from 16-20 week pregnant women who underwent amniocentesis for fetal genetic determination in routine prenatal diagnosis in the first affiliated hospital of Harbin medical university. We successfully isolated the AFMSCs from thirteen of twenty amniotic fluid samples. AFMSCs presented a fibroblastic-like morphology during the culture. Flow cytometry analyses showed that the cells were positive for specific stem cell markers CD73,CD90, CD105, CD166 and HLA-ABC (MHC class I, but negative for CD 45,CD40, CD34, CD14 and HLA-DR (MHC class II. RT-PCR results showed that the AFMSCs expressed stem cell marker OCT4. AFMSCs could differentiate into bone cells, fat cells and chondrocytes under certain conditions. AFMSCs had the high motility to migrate to ovarian cancer site but didn't have the tumorigenicity. This study enhances the possibility of AFMSCs as drug carrier in human cell-based therapy. Meanwhile, the research emphasis in the future can also put in targeting therapy of ovarian cancer.

  5. The development of non-invasive prenatal testing%无创产前检测的发展进程

    Institute of Scientific and Technical Information of China (English)

    韩璐好; 陈晓丹; 蒋玮莹

    2016-01-01

    产前胎儿健康状况的测试和评估通常分为侵入性和非侵入性两种手段,常规的筛查方法包括母亲血液样本的生化检查和影像学超声检查.侵入性方法包括羊膜穿刺术(amniocentesis),绒毛膜取样(chorionic villus sampling,CVS),脐血取样等,这些方法虽能准确地诊断,但可能造成胎儿损伤,导致产妇流产等不良后果.随着基因组测序技术的发展,一种新的非侵入性检测方法,无创产前检测(non-invasive prenatal testing,NIPT)无疑开辟了产前诊断的新纪元.NIPT是对母体外周血浆中胎儿游离DNA进行检测分析,从而判断胎儿是否患遗传性疾病的一种方法.NIPT的高灵敏度和特异性具有替代目前使用血清筛查和侵入性诊断的前景.随着科技的进步,未来NIPT在临床上应用的范围会越来越广泛.本文中针对母亲血中胎儿游离DNA,NIPT结合下一代测序检测遗传性疾病,母亲血浆中游离RNA,NIPT国内外临床应用等方面做简单介绍,对其今后发展趋势做出展望.

  6. Semaphorin 3F expression is reduced in pregnancy complicated by preeclampsia. An observational clinical study

    Science.gov (United States)

    Stallone, Giovanni; Matteo, Maria; Netti, Giuseppe Stefano; Infante, Barbara; Di Lorenzo, Adelaide; Prattichizzo, Clelia; Carlucci, Stefania; Trezza, Federica; Gesualdo, Loreto; Greco, Pantaleo

    2017-01-01

    Background and objective Preeclampsia is a systemic disorder, affecting 2–10% of pregnancies, characterized by a deregulated pro- and anti-angiogenic balance. Semaphorin 3F is an angiogenesis inhibitor. We aimed to investigate whether semaphorin 3F expression is modulated in preeclampsia. Design, setting, participants, and measurements We performed two observational single center cohort studies between March 2013 and August 2014. In the first we enrolled 110 consecutive women, undergoing an elective cesarean section; in the second we included 150 consecutive women undergoing amniocentesis for routine clinical indications at 16–18 week of gestation. Semaphorin 3F concentration was evaluated in maternal peripheral blood, venous umbilical blood and amniotic fluid, along with its placenta protein expression at the time of delivery in the first study group and in the amniotic fluid at 16–18 weeks of gestation in the second study group. Results In the first study 19 patients presented at delivery with preeclampsia. Semaphorin 3F placenta tissue expression was significantly reduced in preeclampsia. In addition, semaphorin 3F level at delivery was significantly lower in serum, amniotic fluid and venous umbilical blood of preeclamptic patients compared with normal pregnant women. In the prospective cohort study 14 women developed preeclampsia. In this setting, semaphorin 3F amniotic level at 16–18 weeks of gestation was reduced in women who subsequently developed preeclampsia compared to women with a normal pregnancy. ROC curve analysis showed that semaphorin 3F amniotic levels could identify women at higher risk of preeclampsia. Conclusions Semaphorin 3F might represent a predictive biomarker of preeclampsia. PMID:28350837

  7. Normal reference range of fetal nuchal translucency thickness in pregnant women in the first trimester, one center study

    Directory of Open Access Journals (Sweden)

    Marzeie Sharifzadeh

    2015-01-01

    Full Text Available Background: Considering that establishment of reference value of nuchal translucency (NT-related to the crown rump length (CRL during the first trimester will be helpful for determining an appropriate cutoff level for screening of increased NT thickness-related abnormalities, we determined the NT thickness and investigated its relation with different chromosomal and nonchromosomal abnormalities among a large sample size of pregnant Iranian women. Materials and Methods: In this analytic cross-sectional study, pregnant women who were in their first trimester were enrolled at their antenatal visit. Using an abdominal ultrasonography, the fetal NT thickness of the studied population was measured. Those with increased NT thickness were determined. The reference value of NT thickness (5th, 25th, 50th, 75th, and 95th percentiles within each 5-mm range of CRL and during the 11th, 12th, and 13th gestational weeks were determined. The presences of the different chromosomal and nonchromosomal abnormalities were compared in women with different percentiles of NT thickness who underwent amniocentesis and those who did not. Results: 1,614 pregnant women were evaluated. The mean NT thickness was 1.30 ± 0.54 mm. Increased NT thickness >2 mm and >95th percentile according to their gestational age (GA was detected in 89 (5.5% and 58 (3.6% pregnant women. The reference 95th percentile value range for NT was 1.8-2.35 and increased NT thickness according to our obtained values was associated significantly with chromosomal abnormalities. Conclusion: The obtained reference range in our studied population was different from that reported for other ethnic groups and it is suggested that using this values are more favorable for screening of chromosomal abnormalities during the first trimester of pregnancy than the recommended single cutoff value.

  8. Maternal obesity affects fetal neurodevelopmental and metabolic gene expression: a pilot study.

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    Andrea G Edlow

    Full Text Available OBJECTIVE: One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorly understood. We performed a global gene expression analysis of mid-trimester amniotic fluid cell-free fetal RNA in obese versus lean pregnant women. METHODS: This prospective pilot study included eight obese (BMI≥30 and eight lean (BMI<25 women undergoing clinically indicated mid-trimester genetic amniocentesis. Subjects were matched for gestational age and fetal sex. Fetuses with abnormal karyotype or structural anomalies were excluded. Cell-free fetal RNA was extracted from amniotic fluid and hybridized to whole genome expression arrays. Genes significantly differentially regulated in 8/8 obese-lean pairs were identified using paired t-tests with the Benjamini-Hochberg correction (false discovery rate of <0.05. Biological interpretation was performed with Ingenuity Pathway Analysis and the BioGPS gene expression atlas. RESULTS: In fetuses of obese pregnant women, 205 genes were significantly differentially regulated. Apolipoprotein D, a gene highly expressed in the central nervous system and integral to lipid regulation, was the most up-regulated gene (9-fold. Apoptotic cell death was significantly down-regulated, particularly within nervous system pathways involving the cerebral cortex. Activation of the transcriptional regulators estrogen receptor, FOS, and STAT3 was predicted in fetuses of obese women, suggesting a pro-estrogenic, pro-inflammatory milieu. CONCLUSION: Maternal obesity affects fetal neurodevelopmental and metabolic gene expression as early as the second trimester. These findings may have implications for postnatal neurodevelopmental and metabolic abnormalities described in the offspring of obese women.

  9. Diagnostic analysis of conservative treatment of cervical pregnancy%宫颈妊娠保守治疗诊治分析

    Institute of Scientific and Technical Information of China (English)

    付婷

    2015-01-01

    目的:探讨宫颈妊娠的临床表现、诊断及治疗。方法回顾性分析6例宫颈妊娠患者的临床资料及诊治情况。结果6例患者中4例采用甲氨蝶呤妊娠囊局部注射成功,药物联合超声引导下宫颈吸刮术成功1例,1例采用甲氨蝶呤妊娠囊局部注射及双侧子宫动脉栓塞灌注,术后行利凡诺引产、羊膜腔穿刺抽取羊水诱发宫缩,保守治疗成功。结论充分认识宫颈妊娠的临床特征有利于早期诊断,保守性治疗是治疗宫颈妊娠较为安全可靠的方法,能保留患者的生育功能。%Objective To explore the clinical features , diagnosis and treatment of cervical pregnancy . Methods Retrospective analysis on the clinical data of 6 patients with cervical pregnancy were done . Results 4 cases among 6 were given the conservative treatment of methotrexate pregnancy capsule local injection.One case was recovered through ultrasound-guided curettage after medicine care .One patient was given methotrexate pregnancy capsule local injection , uterine artery embolization and perfusion , then use induction of labor by rivanol and amniocentesis to induce labour , The conservative surgery was successful .Conclusions Sufficient understanding of clinical characteristics of cervical pregnancy is benefit for early diagnosis and treatment.Conservative surgery is safe and reliable treatment for cervical pregnancy , which can preserve reproductive function of patients .

  10. Características demográficas del síndrome de Down en Navarra: Evolución del diagnóstico pre y postnatal durante el periodo 1991-2009

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    M.A. Ramos-Arroyo

    2013-08-01

    Full Text Available Este estudio describe la evolución del diagnóstico pre y postnatal del síndrome de Down (SD en la Comunidad Foral de Navarra desde 1991 a 2009 y analiza su impacto preventivo a nivel poblacional, así como los cambios asociadas a dicha cromosomopatía. En ausencia de diagnóstico prenatal del SD, el cambio en la edad materna desde 1991 a 2009 hubiera conllevado un aumento del 50% en el número de nacimientos con esta cromosomopatía. Sin embargo, el incremento de la tasa de detección prenatal (15,8% durante 1991-1994 y 64,3% entre 2006-2009 ha condicionado una ligera tendencia descendiente de su prevalencia al nacimiento, no estadísticamente significativa, y un aumento en la edad media de sus madres (32,75± 5,02 y 34,8±4,82 años en el primer y último periodos, respectivamente. El porcentaje de SD nacidos vivos, hijos de madres menores de 35 años, fue del 66% en 1991-2004 y del 45% en 2006-2009. Casi una quinta parte de las gestantes rechazaron el cribado bioquímico o la amniocentesis y un 17% de los nacimientos con SD tuvieron un resultado de cribado positivo, pero las madres decidieron continuar el embarazo. Estos resultados sugieren que, a pesar de implementar nuevos y más sensibles test de cribado, la incidencia del SD puede mantenerse relativamente alta en nuestra población, circunstancia a tener en cuenta tanto en la elaboración de los planes de prevención antenatal como de los de su cuidado postnatal.

  11. Ascitis fetal masiva idiopática aislada

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    Yolimar Navarro Briceño

    2016-08-01

    Full Text Available La ascitis fetal esta comúnmente asociada a malformaciones gastrointestinales y urinarias, anemia, infección y anomalías cromosómicas. La ascitis fetal masiva idiopática es rara. Se reporta un caso de una embarazada de 33 años referida a las 17 semanas después que se detectó ascitis en ausencia de anomalías estructurales. La evaluación cardiaca y las pruebas diagnósticas de infecciones virales fueron negativas. A las 28 semanas se detectó ascitis masiva sin otros signos de hidrops fetal. La velocidad sistólica pico de la arteria cerebral media fetal estaba elevada. El Doppler de la arteria umbilical, crecimiento fetal y volumen de líquido amniótico estaban normales. El ecocardiograma fetal estaba normal. Se realizó la amniocentesis con resultados normales del cariotipo. A pesar de la persistencia de la ascitis masiva durante el seguimiento, el crecimiento fetal y el volumen de líquido amniótico eran normales con valores elevados de la velocidad sistólica pico de la arteria cerebral media fetal. A las 33 semanas la paciente se realizó cesárea de emergencia por sufrimiento fetal agudo. Se obtuvo un recién nacido vivo femenino normal con valores normales de hemoglobina al nacer. El flujo vascular hepático, vesical y hepato-portal fueron normales. La ascitis se resolvió completamente al octavo día después del nacimiento y el recién nacido fue dado de alta a los 15 días.

  12. Amniotic Fluid Infection, Cytokine Levels, and Mortality and Adverse Pulmonary, Intestinal, and Neurologic Outcomes in Infants at 32 Weeks' Gestation or Less

    Science.gov (United States)

    2017-01-01

    To what extent the risks of neonatal morbidities are directly related to premature birth or to biological mechanisms of preterm birth remains uncertain. We aimed to examine the effect of exposure to amniotic fluid (AF) infection and elevated cytokine levels on the mortality and pulmonary, intestinal, and neurologic outcomes of preterm infants, and whether these associations persist after adjustment for gestational age at birth. This retrospective cohort study included 152 premature singleton infants who were born at ≤ 32 weeks. AF obtained by amniocentesis was cultured; and interleukin-6 (IL-6) and IL-8 levels in AF were determined. The primary outcome was adverse perinatal outcome defined as the presence of one or more of the followings: stillbirth, neonatal death, bronchopulmonary dysplasia, necrotizing enterocolitis, intraventricular hemorrhage, and periventricular leukomalacia. Logistic regression analysis was adjusted for gestational age at birth and other potential confounders. In bivariate analyses, elevated AF IL-6 and IL-8 levels were significantly associated with adverse perinatal outcome. These results were not changed after adjusting for potential confounders, such as low Apgar scores, mechanical ventilation, and surfactant application. However, the independent effect of elevated cytokine levels in AF disappeared when additionally adjusted for low gestational age at birth; consequently, low gestational age remained strongly associated with the risk of adverse perinatal outcome. In conclusion, elevated levels of pro-inflammatory cytokines in AF are associated with increased risk of adverse perinatal outcomes, but this risk is not independent of low gestational age at birth. Culture-proven AF infection is not associated with this risk. PMID:28145652

  13. O tratamento da insuficiência istmocervical com protrusão de membranas Management of cervical incompetence with prolapsed membranes

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    Rosiane Mattar

    1999-04-01

    Full Text Available Nas gestantes com insuficiência istmocervical (IIC nas quais já houve cervicodilatação e prolabamento das membranas existe dificuldade técnica para realizar-se a circlagem para conseguir o prolongamento da gravidez até que haja maturidade fetal suficiente para garantir a sobrevida do concepto. Descrevemos um caso de IIC com prolabamento de membranas na 21ª semana, em que se realizou a diminuição da pressão intra-uterina por amniocentese com drenagem de líquido amniótico até a reintrodução das membranas para o interior da cavidade uterina, o que permitiu a tração dos lábios do colo e a realização da circlagem com menor trauma mecânico. Esta medida proporcionou a evolução da gravidez por 12 semanas e a sobrevida do concepto.In pregnant women with cervical incompetence in whom there is also dilatation of the cervix and prolapsed membranes there are technical difficulties in performing cerclage in order to prolongate pregnancy until sufficient fetal maturity assures survival of the newborn. We describe a case of cervical incompetence with prolapsed membranes at 21 weeks of gestation, in which we caused the decrease of intrauterine pressure with drainage of amniotic fluid by amniocentesis, until reintroduction of membranes into the uterine cavity was possible. This procedure allowed traction of cervical lips and cerclage with less mechanical trauma, warranting the evolution of pregnancy for 12 weeks and fetal survival

  14. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery.

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    Maria Hallingström

    Full Text Available The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD in mid-trimester amniotic fluid from asymptomatic women.This is a case-cohort study. Amniotic fluid from mid-trimester genetic amniocentesis (14-19 weeks of gestation was collected from 2008 to 2011. The analysis was conducted in 24 healthy women with subsequent spontaneous PTD (cases and 40 randomly selected healthy women delivering at term (controls. An exploratory phase with proteomics analysis of pooled samples was followed by a verification phase with ELISA of individual case and control samples.The median (interquartile range (IQR: 25th; 75th percentiles gestational age at delivery was 35+5 (33+6-36+6 weeks in women with spontaneous PTD and 40+0 (39+1-40+5 weeks in women who delivered at term. In the exploratory phase, the most pronounced differences were found in C-reactive protein (CRP levels, that were approximately two-fold higher in the pooled case samples than in the pooled control samples. However, we could not verify these differences with ELISA. The median (25th; 75th IQR CRP level was 95.2 ng/mL (64.3; 163.5 in women with spontaneous PTD and 86.0 ng/mL (51.2; 145.8 in women delivering at term (p = 0.37; t-test.Proteomic analysis with mass spectrometry of mid-trimester amniotic fluid suggests CRP as a potential marker of spontaneous preterm delivery, but this prognostic potential was not verified with ELISA.

  15. Maternal serologic screening to prevent congenital toxoplasmosis: a decision-analytic economic model.

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    Eileen Stillwaggon

    2011-09-01

    Full Text Available OBJECTIVE: To determine a cost-minimizing option for congenital toxoplasmosis in the United States. METHODOLOGY/PRINCIPAL FINDINGS: A decision-analytic and cost-minimization model was constructed to compare monthly maternal serological screening, prenatal treatment, and post-natal follow-up and treatment according to the current French (Paris protocol, versus no systematic screening or perinatal treatment. Costs are based on published estimates of lifetime societal costs of developmental disabilities and current diagnostic and treatment costs. Probabilities are based on published results and clinical practice in the United States and France. One- and two-way sensitivity analyses are used to evaluate robustness of results. Universal monthly maternal screening for congenital toxoplasmosis with follow-up and treatment, following the French protocol, is found to be cost-saving, with savings of $620 per child screened. Results are robust to changes in test costs, value of statistical life, seroprevalence in women of childbearing age, fetal loss due to amniocentesis, and to bivariate analysis of test costs and incidence of primary T. gondii infection in pregnancy. Given the parameters in this model and a maternal screening test cost of $12, screening is cost-saving for rates of congenital infection above 1 per 10,000 live births. If universal testing generates economies of scale in diagnostic tools-lowering test costs to about $2 per test-universal screening is cost-saving at rates of congenital infection well below the lowest reported rates in the United States of 1 per 10,000 live births. CONCLUSION/SIGNIFICANCE: Universal screening according to the French protocol is cost saving for the US population within broad parameters for costs and probabilities.

  16. Feminist discourse on sex screening and selective abortion of female foetuses.

    Science.gov (United States)

    Moazam, Farhat

    2004-06-01

    Although a preference for sons is reportedly a universal phenomenon, in some Asian societies daughters are considered financial and cultural liabilities. Increasing availability of ultrasonography and amniocentesis has led to widespread gender screening and selective abortion of normal female foetuses in many countries, including India. Feminists have taken widely divergent positions on the morality of this practice. Feminists from India have strongly opposed it, considering it as a further disenfranchisement of females in their patriarchal society, and have agitated successfully for legislative prohibitions. Libertarian feminists on the other hand, primarily from the United States, have argued that any prohibition of the use of this technology is a curtailment of a woman's reproductive choices and a violation of her right to make autonomous decisions regarding procreation. Using India as an illustrative case, this paper argues that in the context of what prevails in some societies, an ethical argument that hinges on the principle of autonomy as understood in the West can be problematic. Furthermore, a liberal theoretical assumption that it is always better to have more rather than fewer choices may not hold up well against the realities of life for such women. Although feminists have little disagreement concerning substantive matters, it is in the area of strategy that differences of opinion have arisen, their moral reasoning and responses shaped by the culture, ethnicity, class and race to which they belong. A view that a single 'orthodox' feminism of any variety can embody the aspiration of all women reverts to the problematic issues in the evolution of the rationalistic, individualistic, 'male' ethics against which women have consistently raised objections.

  17. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.

    Science.gov (United States)

    Hsu, Hui-Fang; Hou, Jia-Woei

    2007-08-01

    Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of non-mosaic trisomy 13 in Taiwan. We thus suggest that long-term survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses.

  18. 30例经腹绒毛活检在孕早期产前诊断中的应用分析%Analysis of application of trans-abdominal chorionic villusin sampling in the prenatal diagnosis in the first trimester

    Institute of Scientific and Technical Information of China (English)

    田丽蕴; 范琦慧

    2015-01-01

    Objective To analyze the application of trans-abdominal chorionic villus sampling in the prenatal diagnosis in the first trimester. Methods A total of 70 patients with single birth and indication of invasive prenatal diagnosis in our hospital from November 2013 to January 2015 were selected. 30 pregnant women in the first trimester was given trans-abdominal chorionic villus sampling (TA-CVS), and 40 pregnant women in the second trimester was given am-niocentesis. Surgery successful rate and pregnancy loss rate were calculated in the two groups. Results In the 30 preg-nant women undergone TA-CVS, chromosome abnormality was detected in 15 cases and induced labor was carried out for all (including 1 case of stillbirth by re-examination 1 week after the surgery of trisomy-21), including 5 cases of trisomy-21, 3 cases of trisomy-13, 5 cases of 45 XO and 2 cases of trisomy-18. The rest of pregnant women with nor-mal testing results of chromosome were traced and observed until delivery. Complications such as placental hematoma, vaginal bleeding and discharge and infants' acromesomelic dysplasia were not seen in the 30 pregnant women. Com-pared with the 40 cases receiving amniocentesis, the surgery successful rate was 100%, and the pregnancy loss rate was 3.33%, and the difference was not statistically significant (P>0.05). Conclusion Amniocentesis should be performed in 18 weeks. Therefore, TA-CVS is able to detect the problem in early stage, so as to alleviate pregnant women's emo-tional and mental pressure. TA-CVS in the first trimester is an early, safe, accurate and reliable invasive technology for prenatal diagnosis. Successful surgery in real practice depends on various aspects.%目的 分析经腹绒毛活检在早孕期产前诊断中的应用. 方法 选择我院 2013年11月~2015年1月有介入性产前诊断指征的单胎病例70例,30例孕早期孕妇行经腹绒毛活检(trans-abdominal chorionic villus sampling, TA-CVS),40例孕中

  19. The Value of ultrasonography in pregnancy a severe thalassemia fetal middle cerebral artery in prenatal diagnosis%怀孕中期应用彩超检测120例 a 型重度地中海贫血胎儿大脑中动脉的临床研究

    Institute of Scientific and Technical Information of China (English)

    叶菀华; 徐婉芳; 林洋洋

    2015-01-01

    Objective To analyze and study the value of the mid-pregnancy ultrasound detected a line of severe thalassemia fetal middle cerebral artery in prenatal diagnosis.Methods Since January 2012 to September 2014 in our hospital as a result of both spouses thalassemia line villus sampling or amniocentesis diagnostic examination of 240 cases of pregnant women,fetuses of pregnant women test group were confirmed by villus sampling inspection or amniocentesis is a confirmed diagnosis of thalassemia,a control group of pregnant women do not carry a fetus thalassemia gene,the fetus is normal.Research object villus sampling or amniocentesis to check whether they carry a diagnosis of fetal thalassemia gene;at the same time ultrasonography to measure the fetal middle cerebral artery peak systolic velocity.Results The experimental group,a moderate to severe thalassemia 59 cases (49.17%),10 cases of thalassemia a moderate groups (8.33%),a mild thalassemia 51 cases (42.50%);120 cases in the control group (100.00%)no a thalassemia. A test group with moderate to severe thalassemia MCA -PSV was significantly higher,with statistical significance as well as with other types of control group,the difference between the experimental group,(P <0.05).Conclusion In mid-pregnancy ultrasound examina-tion performed fetal middle cerebral artery,the diagnosis of a severe thalassemia has a high diagnostic value,and the detection method is fast,safe,reliable,economical and practical.%目的:分析并研究怀孕中期行彩超检测 a 型重度地中海贫血胎儿大脑中动脉在产前诊断中的价值。方法:选取夫妻双方为 a 型地中海贫血行绒毛采样检查或羊膜腔穿刺术诊断的孕妇240例,每组120例。试验组孕妇的胎儿均经绒毛采样检查或羊膜腔穿刺术诊断确诊为 a 型地中海贫血;对照组孕妇的胎儿不携带 a 型地中海贫血基因,胎儿正常。对研究对象进行绒毛采样检查或羊膜腔穿

  20. 深圳地区44147例唐氏筛查临床分析%Clinical analysis of Down's syndrome screening: 44147 pregnancies in Shenzhen

    Institute of Scientific and Technical Information of China (English)

    袁晖; 王宏; 罗福薇; 欧阳淑媛; 吴晓霞; 王晨虹

    2012-01-01

    目的 探讨早孕期和中孕期唐氏筛查对检出胎儿染色体异常的临床价值.方法 2008年1月至2010年12月,应用时间分辨荧光免疫法分别对11 328例早孕期(8~ 13+6周)妇女和32 819例中孕期(14~20+6周)妇女进行唐氏综合征的血清标记物检测.对于唐氏筛查高风险的孕妇,于孕16 ~22w进行羊膜腔穿刺,抽取羊水进行胎儿染色体核型分析.结果 11328例早孕期妇女,627例唐氏筛查高风险;其中21-三体高风险596例,18-三体高风险31例.32819例中孕期妇女,2072例唐氏筛查高风险;其中21-三体高风险1898例,18-三体高风险56例,神经管缺陷(NTD)高风险118例.其中,842例接受羊水穿刺(其中,早孕期高风险210例,中孕期高风险632例),发现胎儿染色体异常39例(早期15例,中期24例),异常检出率为4.63%.其中,羊水穿刺确诊18例唐氏综合征.4例18三体综合征.1例Turner's综合征1例47,XXX9例9号染色体臂间倒位、其他6例.结论 孕期唐氏筛查是预测胎儿染色体异常的有效指标.结合羊水培养,对预防先天缺陷儿出生有重要临床应用价值.%Objective: To explore the prediction value of Down's syndrome screening in the detection of fetal chromosomal abnormality. Methods; Serum markers of PAPP - A and fβ - HCG in 11 328 women (8 - 13 +6 gestational weeks) and serum markers of AFP, uE3 and HCG in 32 819 pregnant women (14-20 +6 gestational weeks) from Jan 2008 to Dec 2010 were detected by applicate time - resolved fluorescence immunoassay. Amniocentesis for fetal karyotype was done between 16 to 22 gestational weeks in gravidas with high risk by screening. Results; 627 cases in the first trimester were detected at high risk. In which, 596 cases were positive in Down's syndrome and 31 cases were positive in 18 trisomy. In the meantime, 2072 cases in the second trimester were detected at high risk. In which, 1898 cases were positive in Down's syndrome, 56 cases were positive in 18

  1. 6584例高龄孕妇妊娠中期羊水染色体核型分析结果%Amniotic fluid karyotyping analysis of 6584 women of advanced maternal age at second trimester

    Institute of Scientific and Technical Information of China (English)

    戚庆炜; 蒋宇林; 周希亚; 刘俊涛; 边旭明

    2013-01-01

    Objective To calculate the incidence of chromosomal abnormalities at second trimester in women who were 35 or older at their expected date of birth.Methods The amniocentesis and karyotyping results in Peking Union Medical College Hospital from January 1st,2001 to June 30th,2011 were retrospectively analyzed.The only indication for amniocentesis in these group of woman was advanced maternal age.A total of 6584 cases Were included in this study and were divided into two groups according to maternal age,ie.35-39 and ≥40 year old group.The incidences of fetal 47,+ 21,47,+ 18 and sex aneuploidies were calculated and compared between two groups by Chi-square test.Results Altogether,121 cases were diagnosed to be abnormal chromosome,and the overall incidence was 18.38‰ (121/6584).The abnormal karyotypes included 111 cases of aneuploidies (mosaicism included) and 10 cases of structural abnormalities.The aneuploidies included 59 cases of 47,+21 (8.96‰,59/6584),25 cases of 47,+18 (3.80‰,25/6584),2 cases of 47,+13 (0.30‰,2/6584) and 25 cases of sex aneuploidies (3.80‰,25/6584).Fetal 47,+21 was the most frequent chromosomal abnormality,accounting for 53.15% (59/111) of all aneuploidies.The incidence of fetal 47,+21 was significantly higher in ≥40 year-old group than that of 35-39 year old group[13.99‰(16/1144) vs 7.90‰(43/5440),x2=3.937,P=0.047].There were no statistical differences of the incidences of fetal 47,+ 18 and sex aneuploidies between the two groups.Conclusions The main fetal chromosomal abnormalities in women aged 35 and older are the aneuploidies of chromosome 21,18,13 and sex chromosomes.The incidence of fetal 47,+21 is significantly increased in the women aged 40 years and older.So prenatal screening should be provided first to women at 35-39 years of age and amniocentesis should be the first choice of prenatal diagnosis for women over 40 years old.%目的 探讨高龄孕妇(预产期年龄≥35岁)胎儿染色体异常的发生率.方法

  2. 唐氏综合征中孕期产前诊断指征的临床研究%Clinical research of prenatal diagnosis of Down syndrome during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    欧阳鲁平; 刘天盛; 费冬梅; 黄红倩; 陈少科; 郑陈光

    2016-01-01

    、0.4%及100.0%。对上述中孕期具有胎儿DS不同产前诊断指征孕妇的胎儿DS检出率比较,差异有统计学意义(χ2=111.83,P<0.001)。结论血清学筛查高风险、高龄(≥35岁)妊娠及胎儿超声检查结果异常,是中孕期产前筛查胎儿DS的重要产前诊断指征。同时,应重视夫妇一方染色体异常和地中海贫血等产前诊断指征,减少出生缺陷儿的出生率。%Objective To analyze the application value of different prenatal diagnosis indications of fetal Down syndrome (DS) in the prenatal diagnosis during the second trimester .Methods From 1st January 2011 to 31st December 2014 ,clinical data of 18 693 cases of pregnant women who received amniocentesis in Maternal and Child Hospital/Children′s Hospital/Obstetrics and Gynecology Hospital of Guangxi Zhuang Autonomous Region were selected as research subjects . The prenatal diagnosis indications of DS among 18 693 cases of pregnant women who received amniocentesis during the second trimester included :advanced maternal age (≥35 years old ,11 664 cases) ,high risk of serum screening (the risk value of trisomy‐21 syndrome ≥ 1/270 ,trisomy‐18 syndrome ≥ 1/350 , 4 226 cases) ,abnormal fetal ultrasound examination results (620 cases) ,one of the couple with chromosomal abnormalities (651 cases) ,and one of the couple or two with mediterranean anemia (782 cases) ,abnormal pregnancy history (748 cases) and noninvasive prenatal test (NIPT ) positive (2 cases) .All the prenatal diagnosis indications of DS were uncrossed . Amniotic fluid cells were collected by amniocentesis to take the genetics examination ,in order to final diagnose the fetal DS . The number and detection rate of fetal DS among pregnant women during the second trimester with the above‐mentioned prenatal diagnosis indications of DS were compared ,and the detection rate of fetal DS was analyzed by statistical method .The study protocol was approved by the

  3. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  4. Hypoxanthine-guanine phosophoribosyltransferase (HPRT deficiency: Lesch-Nyhan syndrome

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    Puig Juan G

    2007-12-01

    Full Text Available Abstract Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent. Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic. Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay, and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The

  5. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  6. Application of chromosomal karyotype analysis of amniotic cells for pregnant women with advanced maternal age%羊水细胞染色体核型分析在高龄孕妇产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    许多

    2012-01-01

    Objective; To conduct prenatal diagnosis among pregnant women with advanced maternal age through chromosomal karyotype analysis of amniotic cells. Methods; A total of 910 pregnant women with advanced maternal age during 16-27 gestational weeks were selected, then amniotic cells were obtained by amniocentesis and cultured, chromosomal karyotype analysis was conducted after preparing chromosomes. Results; Among 910 pregnant women, amniotic cells culture succeeded in 891 , the successful rate was 97. 91%. Postoperative abortion occurred in 5 women, the abortion rate was 0.55%. A total of 43 pregnant women were found with abnormal karyotypes, including 24 pregnant women with autosomal chromosomal numerical abnormality, 6 pregnant women with sex chromosomal numerical abnormality, 2 pregnant women with chimera, and 11 pregnant women with chromosomal structural abnormality. Conclusion; Chromosomal karyotype analysis of amniotic cells is safe, effective, and essential prenatal diagnosis of pregnant women with advanced maternal age.%目的:利用羊水细胞染色体核型分析对高龄孕妇进行产前诊断.方法:对910例孕16 ~ 27周高龄孕妇进行羊膜腔穿刺抽取羊水细胞培养,制备染色体并分析染色体核型.结果:910例高龄孕妇,羊水培养成功891例,成功率为97.91%.5例术后流产,流产率为0.55%.检出43例异常核型,其中常染色体数目异常24例,性染色体数目异常6例,嵌合体2例,结构异常11例.结论:羊水细胞染色体核型分析高龄孕妇产前诊断是安全、有效且必要的.

  7. Ultrasound screening program for chromosomal abnormalities: The first 2000 women

    Directory of Open Access Journals (Sweden)

    Novakov-Mikić Aleksandra

    2007-01-01

    Full Text Available Introduction Screening for chromosomal abnormalities identifies the group of women at higher risk for having a fetus with chromosomal abnormalities and the need for fetal karyotyping. In order to provide high quality screening, strict criteria for certification of operators are introduced, issued by the Fetal Medicine Foundation (FMF, which enables annual external control of results. The aim of this study was to review the results of five-year prenatal screening for chromosomal abnormalities in Novi Sad, Serbia. Material and methods Ultrasound screening at 11-15 weeks gestation was performed, assessing fetal morphology, crowner-rump length and nuchal translucency (NT according to the FMF guidelines. Risk for chromosomal abnormalities included the initial risk, based on maternal age, gestational age and anamnestic data, and corrected risk, which took into account the initial risk and the value of the nuchal translucency. The corrected risk was issued by the computer program issued by the FMF. Results During the period 1999 - 2004, 4580 pregnant women were scanned. The risk for chromosomal abnormality was calculated using the FMF program in 2245 cases and the outcome was known in 1406 cases. The majority of women were between 25 and 29 years of age (37%, and 12% were older than 35 years. NT was below the median in 43% of cases and above in 57%, 3.7% of cases were above the 95th centile. 89% of women were younger than 35, and the risk was reduced in 97% of cases. There were three false negative cases. In 3% of women from this group the risk was increased, out of which there were five cases of trisomy 21 and two terminations were done due to major anomalies. In the group of women over 35 years, the risk was reduced in 95% of cases and in all of them but two the karyotype was normal. In one of the two cases there was a large omphalocele and the karyotype was trisomy 18, and in the other fetus appeared normal, but after amniocentesis due to maternal

  8. 2068例胎儿染色体产前诊断结果分析%Analysis on prenatal diagnostic results of chromosome karyotypes in 2 068 fetuses

    Institute of Scientific and Technical Information of China (English)

    王岳平; 姜卫华; 郝明革; 任彦; 李诗强; 齐漫龙

    2009-01-01

    To explore the incidence of chromosomal diseases in fetuses by analyzing chromosome karyotypes on the high risk population of chromosomal diseases. Methods: 2 068 pregnant women with high risk of chromosomal diseases in their fetuses un-derwent amniocentesis or percutaneous umbilical blood sampling from September 2003 to September 2008, then karyotypes of their fetuses were analysed. Results: 68 fetuses were found chromosome abnormalities, the rate was 3.29%, including 44 fetuses of numerical abnor-mality and 19 fetuses of structural abnormality. Conclusion: Chromosomal karyotypos analysis on high risk population in the mid trimester of pregnancy is an important prenatal diagnosis method. Serum screening, B ultrasound screening and advanced maternal age are important measures to find fetus with chromosomal diseases.%目的:通过对妊娠中期染色体病高危胎儿进行染色体核型分析,对染色体病所致的畸形儿进行产前诊断,探讨胎儿染色体病的发生情况.方法:对2003年9月~2008年9月中国医科大学附属盛京医院2 068例染色体病高危孕妇进行羊膜腔穿刺或胎儿脐静脉穿刺,采取细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断.结果:在2 068例胎儿染色体核型中,发现染色体异常68例,异常率为3.29%,其中数目异常41例,结构异常27例.结论:妊娠中期对染色体病高危胎儿进行羊水或脐血染色体核型分析是产前诊断的重要方法,孕母血清筛查、B超检查并结合孕妇高龄等是发现染色体病胎儿的重要措施.

  9. Rh isoimmunization in Sub-Saharan Africa indicates need for universal access to anti-RhD immunoglobulin and effective management of D-negative pregnancies.

    Science.gov (United States)

    Osaro, Erhabor; Charles, Adias Teddy

    2010-12-01

    Transplacental or fetomaternal hemorrhage (FMH) may occur during pregnancy or at delivery and lead to immunization to the D antigen if the mother is Rh-negative and the baby is Rh-positive. This can result in hemolytic disease of the fetus and newborn (HDFN) in subsequent D-positive pregnancies. The aim of this study is to highlight the challenges associated with the effective management and prevention of Rh alloimmunization among Rh-negative women in Sub-Saharan Africa. In most Sub-Saharan African countries, there is poor and sometimes no alloimmunization prevention following potentially sensitizing events and during medical termination of pregnancy in Rh-negative women. Information about previous pregnancies and termination are often lacking in patients' medical notes due to poor data management. These issues have made the management of Rh-negative pregnancy a huge challenge. Despite the fact that the prevalence of Rh-negative phenotype is significantly lower among Africans than Caucasians, Rh alloimmunization remains a major factor responsible for perinatal morbidity in Sub-Saharan Africa and may result in the compromise of the woman's obstetric care due to the unaffordability of anti-D immunoglobulin. There is the urgent need for the implementation of universal access to anti-D immunoglobulin for the Rh-negative pregnant population in Africa. Anti-D immunoglobulin should be available in cases of potentially sensitizing events such as amniocentesis, cordocentesis, antepartum hemorrhage, vaginal bleeding during pregnancy, external cephalic version, abdominal trauma, intrauterine death and stillbirth, in utero therapeutic interventions, miscarriage, and therapeutic termination of pregnancy. There is also the need for the availability of FMH measurements following potentially sensitizing events. The low-cost acid elution method, a modification of the Kleihauer-Betke (KB) test, can become a readily available, affordable, and minimum alternative to flow cytometric

  10. [Toxoplasmosis in pregnancy: recent acquisitions and new prospects].

    Science.gov (United States)

    Russo, M; Carmellino, S

    1996-01-01

    Congenital toxoplasmosis may develop after maternal primary infection during pregnancy. The infection is usually asymptomatic in pregnant women but poses a risk of severe effects on the fetus. In Italy the incidence is about 6 per thousand. The infection is transmitted to the fetus in approximately 50 percent of such cases. The risk of transmission rises with growing gestational age at the time of primary infection; on the contrary, the seriousness of the effect on the fetuses becomes less active with more advanced pregnancies. Infants with congenital toxoplasmosis are mostly asymptomatic at birth but long-term studies have indicated that up to 85% of them will develop serious sequelae as severe impairment of vision, mental retardation and deafness during the months or the years after the birth. Preventing congenital toxoplasmosis is fundamental. All seronegative women should be encouraged to observe good dietary and general health regulations until delivery. Today the diagnosis in the mother is more reliable because of the improvements in serological techniques. Moreover, it is possible to identify infected fetuses by prenatal procedures such as ultrasonography, amniocentesis and cordocentesis, of which the last two consent to detect the parasite and/or specific antibodies. Recently a polymerase chain reaction (PCR) assay has been developed for the detection of Toxoplasma in the amniotic fluid. Adequate serological screening of pregnant and prenatal diagnosis can be helpful in reducing the incidence of congenital toxoplasmosis; furthermore abortion should be reserved only to cases with severe toxoplasmosis revealed by ultrasonography. Early recognition of pregnant infection and a specific treatment could reduce the parasitic colonization in the placenta by more than 60% and prevent infection in the fetus. If the fetal infection has already occurred, maternal treatment may modify the fetal disease. Spiramycin as immediate treatment of maternal primary infection is

  11. Microbial prevalence, diversity and abundance in amniotic fluid during preterm labor: a molecular and culture-based investigation.

    Directory of Open Access Journals (Sweden)

    Daniel B DiGiulio

    Full Text Available BACKGROUND: Preterm delivery causes substantial neonatal mortality and morbidity. Unrecognized intra-amniotic infections caused by cultivation-resistant microbes may play a role. Molecular methods can detect, characterize and quantify microbes independently of traditional culture techniques. However, molecular studies that define the diversity and abundance of microbes invading the amniotic cavity, and evaluate their clinical significance within a causal framework, are lacking. METHODS AND FINDINGS: In parallel with culture, we used broad-range end-point and real-time PCR assays to amplify, identify and quantify ribosomal DNA (rDNA of bacteria, fungi and archaea from amniotic fluid of 166 women in preterm labor with intact membranes. We sequenced up to 24 rRNA clones per positive specimen and assigned taxonomic designations to approximately the species level. Microbial prevalence, diversity and abundance were correlated with host inflammation and with gestational and neonatal outcomes. Study subjects who delivered at term served as controls. The combined use of molecular and culture methods revealed a greater prevalence (15% of subjects and diversity (18 taxa of microbes in amniotic fluid than did culture alone (9.6% of subjects; 11 taxa. The taxa detected only by PCR included a related group of fastidious bacteria, comprised of Sneathia sanguinegens, Leptotrichia amnionii and an unassigned, uncultivated, and previously-uncharacterized bacterium; one or more members of this group were detected in 25% of positive specimens. A positive PCR was associated with histologic chorioamnionitis (adjusted odds ratio [OR] 20; 95% CI, 2.4 to 172, and funisitis (adjusted OR 18; 95% CI, 3.1 to 99. The positive predictive value of PCR for preterm delivery was 100 percent. A temporal association between a positive PCR and delivery was supported by a shortened amniocentesis-to-delivery interval (adjusted hazard ratio 4.6; 95% CI, 2.2 to 9.5. A dose

  12. Citomegalovirose congênita: relato de caso Congenital cytomegalovirus infection: a case report

    Directory of Open Access Journals (Sweden)

    Patrícia de Fátima Azevedo

    2005-12-01

    Full Text Available A citomegalovirose congênita sintomática é entidade clínica de grande importância devido a sua vasta sintomatologia fetal. No Brasil, o diagnóstico intra-útero é ainda pouco realizado, apesar do grande arsenal propedêutico. Relatamos um caso de citomegalovirose congênita grave com hepatoesplenomegalia, agenesia parcial do vérmix cerebelar, calcificações intracranianas, placentomegalia, aumento da ecogenicidade intestinal e renal, cardiomegalia, hipoplasia pulmonar, derrame pericárdico e ascite. A ressonância nuclear magnética fetal foi utilizada para confirmação dos achados ultra-sonográficos. A amniocentese foi realizada para análise do líquido amniótico por meio da PCR, sendo evidenciado resultado positivo. O óbito fetal foi constatado na 31ª semana de gestação, sendo confirmados os achados através da citopatologia e estudo anatomopatológico do natimorto. O arsenal propedêutico existente, na atualidade, para diagnóstico intra-útero da citomegalovirose congênita é de grande importância para confirmação diagnóstica e determinação do prognóstico fetal.Congenital cytomegalovirus infection is an important clinical entity, due to its sonographic symptomatology. In Brazil, in utero diagnosis is not accomplished despite the improvements in diagnostic methods. We report a congenital infection including: splenomegaly and hepatomegaly, hypoplasia of the cerebellar vermis, intracranial calcifications, hyperechoic kidneys, hyperechoic bowel, cardiomegaly, lung hypoplasia, ascites, and pericardial effusion. Fetal magnetic resonance imaging confirmed the sonographic findings. Amniocentesis was performed for cytomegalovirus PCR in amniotic fluid, which confirmed fetal infection. Fetal loss occurred in the 31st week of pregnancy. Necropsy studies confirmed the sonographic findings. The diagnostic methods have been useful to confirm congenital cytomegalovirus infection and to establish fetal outcome.

  13. [Guideline for prevention of RhD alloimmunizationin RhD negative women].

    Science.gov (United States)

    Lubušký, M; Procházka, M; Simetka, O; Holusková, I

    2013-04-01

    Events following which immunoglobulin (Ig) G anti-D should be given to all RhD negative women with no anti-D alloantibodies: First trimester indications (IgG anti-D sufficient dose of 50 μg*) - termination of pregnancy, spontaneous abortion followed by instrumentation, ectopic pregnancy, chorionic villus sampling, partial molar pregnancy; Second and third trimester indications (IgG anti-D sufficient dose of 100 μg*) - amniocentesis, cordocentesis, other invasive prenatal diagnostic or therapeutic procedures, spontaneous or induced abortion, intrauterine fetal death, attempt at external cephalic version of a breech presentation, abdominal trauma, obstetric hemorrhage; Antenatal prophylaxis at 28th weeks of gestation (IgG anti-D sufficient dose of 250 μg*); Delivery of an RhD positive infant** (IgG anti-D sufficient dose of 100 μg*); Minimal dose*: before 20 weeks gestation - 50 μg (250 IU), after 20 weeks gestation*** - 100 μg (500 IU); Timing: as soon as possible, but no later than 72 hours after the event. In cases where prevention of RhD alloimmunization is not performed within 72 hours of a potentially sensitising event, it is still reasonable to administer IgG anti-D within 13 days, and in special cases, administration is still recommended up to a maximum interval of 28 days postpartum; Legend: *administration of a higher dose of IgG anti-D is not a mistake, ** also if the D type is not known, *** simultaneous assessment of the volume of fetomaternal hemorrhage (FMH) to specify the dose is suitable; The FMH volume assessment - If the volume of fetal erythrocytes (red bood cells, RBCs) which entered maternal circulation is assessed, intramuscular administration of IgG anti-D in a dose of 10 μg per 0.5 mL of fetal RBCs or 1 mL of whole fetal blood is indicated. IgG anti-D in a dose of 10 μg administered intramuscularly should cover 0.5 mL of fetal RhD positive RBCs or 1mL of whole fetal blood. FMH is the fetal RBC volume; fetal blood volume is double

  14. Proteomic Analysis of Amniotic Fluid to Identify Women with Preterm Labor and Intra-amniotic Inflammation/Infection

    Science.gov (United States)

    Romero, Roberto; Espinoza, Jimmy; Rogers, Wade T.; Moser, Allan; Nien, Jyh Kae; Kusanovic, Juan Pedro; Gotsch, Francesca; Erez, Offer; Gomez, Ricardo; Edwin, Sam; Hassan, Sonia S.

    2008-01-01

    Objective Examination of the amniotic fluid proteome has been used to identify biomarkers for intra-amniotic inflammation, as well as those that may be useful in predicting the outcome of preterm labor. The purpose of this study was to combine a novel computational method of pattern discovery with mass spectrometric proteomic profiling of amniotic fluid to discover biomarkers of intra-amniotic infection/inflammation (IAI). Methods This cross-sectional study included patients with spontaneous preterm labor and intact membranes who delivered at term (n=59) and those who delivered preterm with IAI (n=60). Proteomic profiling was performed using SELDI mass spectrometry. A proteomic profile was acquired through multiple simultaneous SELDI conditions which were combined in a single proteomic “fingerprint” using a novel computational approach. Classification of patients based on their associated SELDI-TOF mass spectra as belonging to either the class of individuals with preterm delivery with IAI or term delivery was accomplished by constructing an empirical model. The first phase in the construction of this empirical model involved the selection of adjustable parameters utilizing a training/testing subset of data. The second phase tested the generalization of the model by utilizing a blinded validation set of patients who were not employed in parameter selection. Results Gestational age at amniocentesis was not significantly different between the groups. Thirty-nine unique mass spectrometric peaks discriminated patients with preterm labor/delivery with IAI from those with preterm labor and term delivery. In the testing/training dataset, the classification accuracies (averaged over 100 random draws) were: 91.4% (40.2/44) for patients with preterm delivery with IAI, and 91.2% (40.1/44) for term delivery. The overall accuracy of the classification of patients in the validation dataset was 90.3% (28/31). Conclusions Proteomic analysis of amniotic fluid allowed the

  15. A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis%P基因新生突变致眼皮肤白化病Ⅱ型及其产前诊断

    Institute of Scientific and Technical Information of China (English)

    张丽芸; 徐蓓; 钟燕芳; 陈潇菲; 郑辉; 蒋玮莹; 李洪义

    2013-01-01

    目的 对生育一例眼皮肤白化病(oculocutaneous albinism,OCA)患儿的核心家系进行基因分型诊断,在确定致病基因及基因型后进行产前诊断.方法 应用聚合酶链反应扩增先证者4个OCA基因及其父母相应基因的外显子及外显子-内含子交界区,并进行DNA序列测定,明确先证者及其父母的OCA分型及基因型.对羊水细胞DNA进行相关基因的全外显子序列分析,明确胎儿的基因型.结果 先证者被确定为OCA2,基因型为c.1327G>A/c.2360C>T突变的复合杂合子,父亲为c.2360C>T突变杂合子.c.1327G>A为母源新生突变,胎儿的P基因未发现突变.结论 发现一例新生突变导致的OCA2患者.在进行OCA产前基因诊断时,为了防止新生突变的漏检,应对特定基因进行全序列检测.%Objective To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.Methods To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4OCA genes in the proband and the P gene of her parents.Prenatal genotyping of the fetus was carried out using amniocentesis sample.Results The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T.Her father was heterozygous for c.2360C>T,whilst her mother has none of the two mutations.c.1327G>A is therefore a maternal de novo mutation.Neither of the mutations was found in the fetus.Conclusion A maternally inherited de novo mutation c.1327G>A has been identified in the patient.In order to detect de novo mutations,full sequence analysis is necessary.

  16. Diagnóstico laboratorial do líquido amniótico Laboratory diagnosis of amniotic fluid

    Directory of Open Access Journals (Sweden)

    Sabrina Gonçalves Campana

    2003-09-01

    Full Text Available O presente trabalho tem como objetivos a definição e a fisiologia do líquido amniótico, ressaltando aspectos citológicos e principais técnicas para diagnóstico laboratorial das patologias mais freqüentes. A metodologia utilizada foi a revisão bibliográfica atualizada relacionando os aspectos citológicos com a idade gestacional e técnicas laboratoriais para diagnóstico das principais patologias em que são observadas alterações do líquido amniótico, concluindo-se que este é um importante componente do ambiente intra-uterino. Sua produção e absorção dependem de uma série de mecanismos interdependentes entre o feto, a placenta, as membranas e o organismo materno. Atualmente este fluido pode fornecer inúmeras informações sobre a saúde fetal, realizando-se diversas técnicas, entre elas a amniocentese e a dosagem de alfafetoproteína, que pode detectar defeitos do tubo neural e trissomia do cromossomo 21. A análise do líquido amniótico reforça a importância da realização adequada de um pré-natal, sendo importante relacionar os resultados laboratoriais com a clínica.This present paper aims the definition of the amniotic fluid and its physiology standing out cytological aspects and main techniques for laboratorial diagnosis of the most frequent pathologies. The methodology was based on updated bibliographical research relating the cytological aspects with the pregnancy age and laboratorial techniques for diagnosis of the main pathologies in which alterations of the amniotic fluid are observed, concluding that this is an important component of the intrauterine environment. Its production and absorption depend on a series of interdependent mechanisms among the fetus, the placenta, the membranes and the maternal organism. Currently this fluid can supply innumerable information on the fetal health by the use of diverse techniques, among which, amniocentesis and dosage of alpha-fetoprotein, which can detect defects of the

  17. Tentative research on the human amniotic fluid proteomics%人羊水特异蛋白质组学的探讨研究

    Institute of Scientific and Technical Information of China (English)

    朱斌; 陈芳; 侯常; 黎丽红; 黄素华

    2014-01-01

    目的:寻找人羊水中特异性表达的蛋白质。方法羊膜腔穿刺获取3份正常孕妇的羊水,同时采集其外周肘静脉血,分离血清。提取羊水及血清中的蛋白质,用双向凝胶电泳观察人羊水和血清中蛋白质表达情况,并选取羊水中表达量较血清中高2倍以上的蛋白斑点行基质辅助激光解吸/离子化飞行时间质谱分析。结果在pH 4~7、相对分子质量10~55 kDa区域里,羊水中约(613±29)个蛋白点,血清中约(785±64)个蛋白点。在羊水中表达但血清中不表达的蛋白点约50个,羊水中表达量较血清高2倍以上的蛋白点约50个。结论羊水中存在特异性表达蛋白质,其在妊娠相关生理、病理学中可能起重要作用。%Objective To explore the specific expression of proteomics in amniotic fluid (AF ).Methods Three samples were collected from normal AF by amniocentesis and peripheral venous blood sam-ples were collected simultaneously from which the serum was isolated. Proteins were extracted from both sam-ples and analyzed by two-dimensional gel electrophoresis (2-DE). The protein blots expressed in normal AF twice as high as that in serum were identified by matrix-assisted laser desorption ionizafion time-of-flight mass spectrometry.Results At pH 4-7 and within a molecular mass of 10-55 kDa,(613 ±29)protein blots were i-dentified in normal AF and (785 ±64)in serum. Approximately 50 protein blots were expressed in normal AF rather than serum. Roughly 50 blots were expressed in normal AF twice as high as that in serum. Conclusion Specific protein expression was observed in normal AF,which probably plays a vital role in pregnancy-related physiology and pathology.

  18. Osteogenesis imperfecta and clubfoot—a rare combination

    Science.gov (United States)

    Persiani, Pietro; Ranaldi, Filippo Maria; Martini, Lorena; Zambrano, Anna; Celli, Mauro; D’Eufemia, Patrizia; Villani, Ciro

    2016-01-01

    , especially by both the mother's bisphosphonate drug therapy and the amniocentesis performed during her pregnancy to drain polyhydramnios. In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders. PMID:27495102

  19. Significance of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases%羊水细胞培养用于染色体病产前诊断分析

    Institute of Scientific and Technical Information of China (English)

    刘慈; 刘义辉; 刘学军; 王振海; 张晓艳; 辛虹

    2014-01-01

    Objective To investigate the feasibility and necessity of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases in order to prevent the birth of fetus with chromosomal diseases .Methods The 293 specimens of amniotic cell obtained by amniocentesis from 293 pregnant women with prenatal diagnosis indications were cultured and analyzed .Results Among the 293 specimens of amniotic cell ,14 cases of chromosome abnormality were found , with the chromosome abnormality rate being 4.78%,including 9 cases of chromosome number abnormality and 5 cases of chromosomal structure abnormality .The chromosome abnormality rates were different in different groups with different prenatal diagnosis indications ,in which the chromosome abnormality rates were the highest in the group with one party of the couple with chromosome abnormality .Conclusion The amniotic cell culture and chromosome karyotype analysis are the effective means in prenatal diagnosis for chromosomal diseases in the pregnant women with prenatal diagnosis indications at mid trimester of pregnancy, moreover, the combined detection of serological screening , chromosome examination and ultrasonic inspection plays an important role in the prevention of child birth defects .%目的:探讨羊水细胞培养对孕中期孕妇进行产前诊断的可行性及必要性,防止染色体病患儿的出生。方法对293例有产前诊断指征的孕妇进行羊膜腔穿刺,采取羊水细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断。结果发现染色体异常14例,异常率4.78%,其中数目异常9例,结构异常5例,不同产前诊断指征分组中的异常率不同,以夫妇一方为染色体异常组异常率最高。结论妊娠中期对有产前诊断指征的孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段,而血清学筛查,染色体检查和超声检查三者相互结合对于预防出生缺陷意义重大。

  20. Update: transmission of HIV-1 from mother to child.

    Science.gov (United States)

    Fowler, M G

    1997-12-01

    Mother-to-child transmission near the time of birth is the primary route of HIV-1 infection among infants and young children. Throughout the world, 1000 babies a day become infected with HIV, and cumulative global estimates are that 3 million children have been infected since the HIV pandemic began. Although major advances have been made in reducing mother-to-child transmission of HIV-1 in the USA and Europe through the use of an intensive regimen of zidovudine, many research questions remain unresolved. These include (1) viral and host characteristics which hinder or facilitate perinatal HIV transmission (i.e. the role played by viral load, the placenta and obstetric risk factors); (2) the proportion of transmission occurring in utero, intrapartum or during the breast feeding period; and (3) the mode of action of the successful zidovudine regimen. Studies published within the past year have shed light on several of these research topics. In 1996-1997 a number of important studies were published which support a general correlation between maternal viral load and infant HIV infection. The most recent studies do not, however, support the theory that there is a threshold below which transmission cannot occur, and also indicate that zidovudine, given according to the US Public Health Service guidelines, can significantly reduce the risk of transmission across all levels of maternal viral load. Analyses of viral load data from the successful clinical trial with zidovudine (AIDS Clinical Trial Group 076) suggest that its primary action is not by reducing the viral load, and raise the possibility that administering antiretroviral prophylaxis to the infant at the time of highest exposure may be another reason for the reduction in transmission. Obstetric risk factors for mother-to-child HIV transmission have been evaluated in several large cohort studies. A duration of membrane rupture of more than 4 h, and procedures such as amniocentesis, preterm labor, and the presence

  1. Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing%应用Ion Torrent测序技术检测一个甲基丙二酸血症家系的致病突变暨产前诊断

    Institute of Scientific and Technical Information of China (English)

    李璃; 马定远; 孙云; 张菁菁; 王玉国; 蒋涛; 许争峰

    2016-01-01

    Objective To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis.Methods Molecular analysis of the MUT,MMACHC,MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing.Candidate mutations were validated by Sanger sequencing.The couple was offered prenatal diagnosis via analyzing of the fetal DNA through amniocentesis.Results The proband was found to be compound heterozygous for c.609G>A (p.Trp203X) and c.658_660del AAG (p.Lys220del) mutations,which were inherited respectively from each of his parents.Prenatal diagnosis showed that the fetus has inherited two wild-type parental alleles.Conclusion The targeted Ion Torrent PGM sequencing has detected pathogenic mutations in the Chinese pedigree affected with methylmalonic academia,which has provided molecular evidence for clinical diagnosis,genetic counseling and prenatal diagnosis for the family.%目的 对一个甲基丙二酸血症家系进行基因检测,以明确致病突变,为家系成员再生育提供遗传咨询和产前诊断.方法 应用Ion Torrent半导体测序技术,对甲基丙二酸血症患儿MUT、MMACHC、MMAA和MMAB基因同时进行检测,筛选致病突变位点,并用Sanger测序法进行验证,同时对患儿双亲进行基因检测.患儿母亲再次妊娠时进行产前基因检测,以明确胎儿受累情况.结果 患儿MMACHC基因编码区存在c.609G>A(p.Trp203X)杂合无义突变、c.658_660del AAG(p.Lys220del)杂合缺失突变.患儿母亲携带c.658 660del AAG突变,父亲携带c.609G>A突变.产前基因检测结果显示胎儿未遗传父母携带的MMACHC致病突变.结论 应用Ion Torrent半导体测序技术快速筛查到一个甲基丙二酸血症家系的致病突变,可为临床诊断及遗传咨询提供准确的依据.

  2. [First experiences with prenatal affection of infantile lung maturation by betamethason (author's transl)].

    Science.gov (United States)

    Schwenzel, W; Jung, H; Lahmann, H; Etzrodt, A; Sticherling, C; Korz, K; Liedtke, B; Chantraine, H

    1975-02-01

    Because of premature labour, probability of fetal retardation, discrepance at term of delivery, Rh-incompatibility or EPH-gestosis 185 patients were hospitalized. 76 pregnant women received twice 1.5 ml Celestan Depot i.m. (4.5 betamethasone acetate and 6mg betamethasome dinatrium phosphate per injection) within an interval of 24 hours. It was necessary to maintain a tocolysis for at least 48 hours as a minimum after the first injection of Celestan Depot. The other 109 patients without treatment of glucocorticoids were considered as a controlgroup. We could show that antepartum application of betamethasone before the 38. week of gestation was associated with a reduction of RDS in our premature infants. Only one baby of the betamethasone-treated infants died of hyaline membrane disease during the first 7 days of life compared with 11 of the control group. In 11 patients patients amniocentesis was performed before the first injection of glucocorticoids and was repeated 2 to 7 days later. The amniotid fluid lecithin phosphorus concentration was determined. In the same period of pregnancy and the same iterval the lecithin phosphours level of amniotic fluid was analysed in 11 other patients who were not rreated with glucocorticoids. The difference between amniotic fluid lecithin phosphorus concentration in the first and second anslysis was found significant by a level of significance of alpha = 5%. There was no evidence of an influence of the therapy with Celestan Depot on this increase. The excretion of oestorgens in the urine of 24 hours was analysed in 22 gradidae before and 7 days after the treatment with betamethasone. The oestogen values of the day before application of betamethasone served as baseline figures. All patients showed a market fall in urinary oestrogens excretion, especially after the second day of therapy. After day 2 the values returned rapidly to baseline values. There were no differences between treated and control groups in Apgar scores at birth

  3. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  4. Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

    Directory of Open Access Journals (Sweden)

    Lalatta Faustina

    2012-10-01

    Full Text Available Abstract Background An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one out of 1,000 newborn males, but it is not often detected unless it is diagnosed during prenatal testing. Despite the fact that unbiased follow-up studies demonstrate largely normal post-natal development of young men with 47, XYY, there is a scarcity of controlled studies about the neurological, cognitive and behavioural phenotype which remains the main reason for anxiety and anticipatory negative attitudes of parents. Furthermore, prejudices still exist among professionals and the general population concerning the relationship between this sex chromosome aneuploidy and aggressive and antisocial behaviours. Methods We report on the clinical follow-up of children diagnosed prenatally with a 47,XYY karyotype, whose parents received multidisciplinary counselling and support at time of diagnosis. The specific focus of our study is on auxology, facial features, developmental milestones, behaviour, detection of aggressiveness as well as the evaluation of parental attitudes toward prenatal counselling. Clinical evaluations including auxological measurements and dysmorphological descriptions were as conducted on 13 boys aged 9 month -7 years. The Child Behavior Check List test specific for age and a 15 item questionnaire were administered to both parents. An update of ongoing problems was carried out by means of a telephone interview two years later. Results Our results show that, from birth, weight, height and head circumference were above average values while some facial features such mild hypertelorism are overrepresented when compared to parents' facial features. Language delay was detected in 8 out of 11 children older than 20 months. Parental attitudes were found to be favourable toward prenatal diagnoses of sexual

  5. Relationship between fetal congenital heart defects and chromosomal anomalies detected by prenatal ultrasound%产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    黎新艳; 田晓先; 晁桂华; 韦波

    2012-01-01

    目的 应用超声探讨胎儿先天性心脏畸形与染色体异常的关系.方法 回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例.结果 58例先天性心脏畸形胎儿中复杂畸形39例(67.2%),心内畸形合并心外畸形26例(44.8% );染色体异常16例(27.6%),其中18 -三体综合征9例,21 -三体综合征4例,13 -三体综合征2例,47,XX,+8[16]\\46,XX[44] 1例.结论 不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型.%Objective To explore the relationship between fetal congenital heart defects (CHD)and chromosomal anomalies by ultrasound. Methods Fifty-eight fetuses with CHD and underwent chromosome examination were enrolled in this study, their data were analyzed retrospectively. Results In 58 cases, there were 39 fetuses (67.2% ) of cardiac complicated deformity and 26 fetuses (44.8%) of extra cardiac malformations, 16 fetuses (27.6%) had chromosomal abnormalities including 9 cases of trisomy 18, 4 cases of trisomy 21, 2 cases of trisomy 13, and 1 case of 47, XX,+8 [ 16 ]\\46, XX [ 44 ]. Conclusion Different fetal CHD has different correlation with chromosomal abnormalities. When prenatal ultrasound diagnosis of heart malformations is made, we should check the fetus carefully and perform amniocentesis or umbilical cord blood puncture to confirm the chromosome karyotype when it is necessary.

  6. 18-三体综合征胎儿产前超声表现分析%Prenatal ultrasonography associated with fetuses of trisomy 18 syndrome

    Institute of Scientific and Technical Information of China (English)

    韩璐; 于华; 荆春丽; 冯丽云; 王彦

    2015-01-01

    Objective:To investigate the sonographic appearances of fetuses with trisomy 18 syndrome and the clinical significance. Methods: The ultrasound findings of 20 cases of trisomy 18 confirmed by amniocentesis or cordocentesis were evaluated.Results: All of the 20 cases had at least 2 parts of sonographicanomalies. Fetal cardiac anomalies were the most common ifndings which accounted for 75%among all the cases. The less abnormal sonographic findings included choroid plexus cysts, short limbs measurement or abnormal gestures, polyhydramnios, The other abnormal sonographic ifndings included fetal growth restriction, singleumbilical artery, fetal head in the shape of strawberry, omphalocele, esophageal atresia,absence of the corpus callosum,Dandy—Walker syndrome,ventriculomegaly,abnormal systolic/diastolic ratio(S/D)of umbilical artery,umbilical cord cyst,diaphragmatichernia.Conclusion:The evaluation of prenatal ultrasound screening is effective for the Prenatal diagnosis fetus with trisomy 18.%目的:探讨18-三体综合症胎儿的产前超声表现及超声检查临床价值。方法:回顾性分析20例经羊膜腔穿刺或脐血穿刺染色体核型检查确诊为18-三体综合征胎儿的超声表现。结果:确诊的20例18-三体综合征胎儿均有两个及以上异常超声表现,常见超声表现主要为心脏畸形15例(75%),其次是脉络丛囊肿,四肢骨骼或姿势异常,羊水多,还可见到胎儿生长受限,单脐动脉,草莓头,脐膨出,食道闭锁,胼胝体缺失、Dandy-Walker畸形、侧脑室扩张、脐动脉血流S/D升高、脐带囊肿1例、膈疝等。结论:产前超声筛查对18-三体综合征胎儿的产前检出具有重要意义。

  7. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的临床应用%Clinical applications of serological screening and fetal ultrasonography for prenatal diagnosis of trisomy 18 and trisomy 13

    Institute of Scientific and Technical Information of China (English)

    梁学清; 韦丽萍; 唐娟

    2012-01-01

    Objective: To evaluate the values of serological screening and fetal ultrasonography in prenatal diagnosis of trisomy 18 and trisomy 13. Methods:A total of 780 pregnant women received serological screening and fetal ultrasonography, the samples of amnion fluid were obtained by amniocentesis, the cell culture and chromosomal karyotype analysis were conducted for prenatal diagnosis. Results; Among 780 fetuses, 6 fetuses were found with trisomy 18 and trisomy 13, the incidence was 0.77% , including 3 fetuses with trisomy 18 and 3 fetuses with trisomy 13. Three fetuses with trisomy 18 were found with high risk of serological screening and abnormal ultrasonic structure; and the other three fetuses were found with abnormal ultrasonic structure and low risk of serological screening. Conclusion: Serological screening of pregnant women combined with fetal ultrasonography is an effective method to detect trisomy 18 and trisomy 13 before delivery.%目的:评价利用孕妇血清学筛查与胎儿超声检查在18、13三体综合征胎儿产前诊断的价值.方法:对780例孕妇进行孕妇血清学筛查与胎儿超声检查,羊膜腔穿刺取羊水进行细胞培养染色体核型分析进行产前诊断.结果:780例胎儿中共发现6例18、13三体综合征,发生率为0.77%.其中3例18三体综合征,3例13三体综合征.3例18三体综合征血清学筛查高风险和超声结构异常,其余3例超声检查发现结构异常但血清学筛查为低风险.结论:孕妇血清筛查结合胎儿超声检查是产前检出18、13三体综合征胎儿的有效检查方法.

  8. Mosaic variegated aneuploidy with microcephaly: A rare cytogenetic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Meck, J.M.; Kozma, C.; Stratakis, C. [Georgetown Univ. Medical Center, Washington, DC (United States)] [and others

    1994-09-01

    The term {open_quotes}mosaic variegated aneuploidy with microcephaly{close_quotes} describes the finding of a variety of chromosomal aneuploidies within the same individual. This mutation affecting mitotic segregation has been reported previously in only 7 persons. We report here on male and female siblings with this condition. Proband 1 died at 57 days of age; proband 2 is 7 months old. Amniocentesis performed on the first sibling only revealed multiple aneuploidies (+2, +6, +X, tetrasomy 2, double trisomy X and 11, and deletion Xq); the majority of cells were normal and the abnormal cells did not constitute true mosaicism. Postnatally, blood on proband 1 had 20/50 cells (40%) with +18, single cells with +10 and +20, and 28/50 normal cells (56%). This was initially interpreted as trisomy 18 mosaicism not detected in amniocytes. Blood from proband 2 showed the following; after 48 hrs in culture, 4/50 trisomic cells (+3, +6, +18, XXY); after 72 hrs 3/50 trisomic cells (+5, +6, +18); after 96 hrs, 7/50 aneuploid cells (+2, +8, +9, +10, +18, double trisomy 11 and 18, tetrasomy 2 with +18). Skin biopsy on proband 2 revealed trisomy 2 in 5/140 cells (4%), one cell each +18 and +19, on cell tetrasomy 2, one cell XXY and +5; 131 cells (94%) were normal. Paternal skin fibroblasts had trisomy 6 in 2/100 cells and 1 cell trisomy 5; the remainder were normal. One trisomic cell (+18) in 100 was found in maternal skin fibroblasts. Trisomy 18 was the most common aneuploidy in the probands` blood. Aneuploidy for chromosomes 2 and X were more common in amniocytes and skin. No trisomies of chromosomes 1, 4, 12-17, 22 or Y were observed; acrocentrics rarely malsegregated. These findings are consistent with those of the other 7 reported patients, and constitute a distinct syndrome of multiple chromosomal aneuploidies associated with microcephaly. Although rare, cytogeneticists and clinical geneticists should be aware of this mitotic mutant.

  9. Prenatal ultrasonic screening of fetuses with trisomy 18%18-三体综合征胎儿的产前超声筛查

    Institute of Scientific and Technical Information of China (English)

    栗河舟; 王铭; 许雅娟; 吴玥丽; 雷冬梅; 刘云; 李洁; 林杉; 孟繁凌

    2012-01-01

    目的:评价18三体综合征胎儿的超声表现特征和产前超声筛查的价值.方法:对羊膜腔穿刺或脐血管穿刺确诊为18-三体综合征的27例胎儿超声声像图进行分析.结果:27例18-三体胎儿均表现为胎儿结构异常,每例胎儿可检出四项及四项以上超声异常,最常见的超声改变是心脏畸形,共25例;其它常见的异常包括重叠指17例,单脐动脉11例,小下颌10例,上消化道梗阻9例,脉络丛囊肿及桡骨发育不良或缺如各8例,草莓头7例,小脑发育不良、小脑延髓池扩大、脐膨出及腕关节异常各6例,宫内生长受限11例,羊水过多19例.结论:超声检查是产前筛查18-三体综合征胎儿的有效手段.%Objective: To evaluate the characteristics of ultrasonic manifestations and value of prenatal ultrasonic screening for fetuses with trisomy 18. Methods: The ultrasonic images of 27 fetuses diagnosed as trisomy 18 definitely by amniocentesis and needle puncture of umbilical blood vessels were analyzed. Results; All the fetuses with trisomy 18 were found with fetal structural abnormality, each fetus was found with four kinds or more than four kinds of ultrasonic abnormalities, the most common ultrasonic abnormalities were cardiac abnormalities, which were found in 25 fetuses; the other common abnormalities included abnormal fingers overlap (17 fetuses) , single umbilical artery (11 fetuses) , micrognathia (10 fetuses) , upper gastrointestinal obstruction (9 fetuses) , choroid plexus cyst ( 8 fetuses) , dysplasia or absence of radius (8 fetuses) , strawberry head (7 fetuses) , cerebellar hypopksia (6 fetuses) , dilatation of cisterna magna (6 fetuses) , omphalocele (6 fetuses) , wrist abnormalities (6 fetuses) , intrauterine growth restriction (11 fetuses) , and polyhydramnios ( 19 fetuses) . Conclusion; Ultrasonographyis an effective method for prenatal screening of fetuses with trisomy 18.

  10. 不完全型雄激素不敏感综合征产前诊断研究%Genetic analysis and prenatal diagnosis in a family with partial androgen insensitivity syndrome

    Institute of Scientific and Technical Information of China (English)

    吴维青; 华轩; 袁晖; 谢建生

    2016-01-01

    Objective To detect AR gene mutation in 2 patients of a partial androgen insensitivity syndrome family and perform prenatal diagnosis for the high risk fetus.Methods Eight exons and at least 100bp flanking intrinsic sequence of AR gene were screened by PCR and direct sequencing. CAG repeats in exon1 of AR gene was used as a STR marker in linkage analysis. The amniocentesis was performed for determination of genetic gender and linkage analysis. The Fetal genital anomalies were scanned by color Doppler ultrasound.Results No mutation was found in two patients' AR gene. Linkage analysis indicated that the 21 times of CAG repeats was related to the phenotype in this family. The male fetus inherited the 21 times repeat of CAG, and antenatal sonographic diagnosis showed its external genitals was abnormal (micropenis, perineoscrotal hypospadia).Conclusion Male fetus was still diagnosed as PAIS based on the results of linkage analysis and sonographic diagnosis, although no specific mutations of AR gene were detected in PAIS patients.%目的:对不完全型雄激素不敏感综合征(Partial Androgen Insensitivity Syndrome, PAIS)一家系进行病例报道及遗传分析,并对高危胎儿进行产前诊断。方法分析患者雄激素受体(AR)基因序列及第一外显子内的CAG重复,结合核型及产前超声判断胎儿是否罹患PAIS。结果2名患者AR基因编码区及侧翼序列未见异常,男性胎儿获得了与疾病相关的CAG重复次数,超声检查提示其外生殖器发育异常。结论本研究对一个PAIS家系进行了遗传分析,虽未能明确AR基因突变,但连锁分析及产前超声均提示男性胎儿罹患PAIS。本研究可为同样病例的遗传分析、产前诊断和遗传咨询提供借鉴资料。

  11. Amniotic cells culture and its application in the prenatal diagnosis%孕中期羊水细胞培养及其在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    武其文; 范含萍; 江峰; 浦春

    2012-01-01

    Objective :To explore an amniotic cell culture technology with higher harvests and verify its validity in prenatal diagnosis. Methods : The amniotic fluid samples were obtained in 238 pregnant women with gesta-tional weeks of 16 to 30 and indications for prenatal diagnosis by aseptic amniocentesis and cultured for determination of the chromosome karyo-type. In real performance, moderate improvement was done to the sample collection,cell inoculation and harvesting as well as aspects involved in the procedures. Results: Amniotic cells were finally cultured in 231 of 238 cases( 97. 1% )whose abnormalities were identified in 8( 3. 5% )in which 6 were abnormal number of chromosomes, 1 mosaic and another 1 , chromosomal balance translocation. Conclusion-. The modified amniotic cell culturing technique for kargotyping is effective in prenatal diagnosis of fetal chromosomal disease for its safety and reliability.%目的:探索一种具有较高培养成功率的羊水细胞培养技术及其在产前诊断中的应用.方法:238例孕16~30周且有产前诊断指征的孕妇,在无菌条件下行羊膜腔穿刺术采集羊水进行细胞培养和染色体核型分析.实验过程对标本的采集、细胞接种收获和制片等环节进行了改进.结果:238例孕妇羊水成功培养231例,成功率97.1%,发现染色体异常核型8例,异常率占3.5%;其中染色体数目异常6例,嵌合体1例,平衡易位1例.结论:改进后的羊水细胞培养染色体核型分析技术是孕中期产前诊断胎儿染色体病的一种安全、有效、可靠的方法.

  12. 米非司酮配伍米索前列醇用于中期妊娠引产20例体会%The Experience of 20 Cases about Mifepristone and Misoprostol Apply to Mid-pregnancy Abortion

    Institute of Scientific and Technical Information of China (English)

    陈淑玲; 彭晨

    2013-01-01

    Objective:To investigate the effects of mifepristone and misoprostol applied to mid-pregnancy abortion.Methods:In recent 2 years,the 20 cases in mid-pregnant (gestational age 12-24 week) were randomly divided into two groups,observer group used mifepristone and misoprostol for induced labor in oral combined medication on an empty stomach,the control group used rivanol amniocentesis injection induced abortion,to observe clinical efficacy,security and adverse reactions.Results:The success rate of the observation group were 90%,significantly higher than that of the control group.Comparing with the control group,the observer groups shorten birth process,reduce maternal pain,vaginal bleeding and retained placenta and fetal membrane decreased significantly. There were no adverse reaction,no complications such as rupture of uterus in two groups.Conclusion:Mifepristone and misoprostol is a simple,economical, convenient,safe and effective method in mid-pregnancy abortion,and this method can be widely applied in clinical.%  目的:探讨米非司酮配伍米索前列醇在中期妊娠引产中的应用效果。方法:将两年来笔者所在医院20例中期妊娠妇女(孕周12~24周)随机分为两组,观察组采用米非司酮配伍米索前列醇空腹口服引产,对照组采用利凡诺尔羊膜腔穿刺注射引产,观察两组临床疗效、安全性及不良反应。结果:观察组成功率为90%,显著高于对照组的70%;观察组较对照组产程短,产妇痛苦小,阴道出血量和胎盘胎膜残留显著低。两组均无不良反应,未见子宫破裂等并发症发生。结论:米非司酮配伍米索前列醇是一种方法简单、经济方便、安全、有效的中期妊娠引产方法,值得推广。

  13. [Prenatal diagnosis. Review, personal and prospective studies].

    Science.gov (United States)

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

  14. A review of trisomy X (47,XXX).

    Science.gov (United States)

    Tartaglia, Nicole R; Howell, Susan; Sutherland, Ashley; Wilson, Rebecca; Wilson, Lennie

    2010-05-11

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a

  15. 杭州地区孕中期孕妇羊水细胞染色体核型分析在产前诊断中的临床应用%Application of amniotic cell karyotyping in the prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    吴虹

    2011-01-01

    目的 对胎儿患有某些染色体疾病进行产前诊断,降低出生缺陷.方法 对孕18-26周孕妇进行羊膜腔穿刺抽取羊水,做羊水细胞培养,并分析染色体核型.结果 481例孕妇,羊水培养成功477例,成功率99.16%,发现25例染色体异常,占5.19%,其中染色体数目异常4例,性染色体数目异常1例,嵌合体1例,平衡易位3例,其它结构异常16例.结论 孕中期羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷发生率.%Objective: The aim of this study was to make prenatal diagnosis for the fetus with certain chromosomal diseases reduce birth defects. Methods: Amniotic cell gotten by amniocentesis were cultured and karyotypod. Results: Cases were cultured successfully in 477 cases. The successful rate was 99. 16%. Among 25 cases with chromosomal abnormality cases in 481. Cases who were karyotypod, which take 5. 19 % of the total cases. Among 25 cases with karyotype disorder, 4 cases were autosomal chromosomal abnormalities, 1 cases were sex chromosomal abnormalities, 1 cases were mosaics, 3 cases were balanced translocations and 16 cases were other chromosomal abnormalities. Conclusion: Anmiocentesis and kargotyping not only can check out fetal chromosome abnormality in time, but also can provide the scientific basis for whether to continue the pregnancy.

  16. Amniotic fluid amino acid levels in non-immune hydrops fetalis: a case-control study

    Directory of Open Access Journals (Sweden)

    M. Erdemoğlu

    2011-07-01

    Full Text Available In a prospective case-control study, we compared the amniotic fluid amino acid levels in non-immune hydrops fetalis (NIHF and normal fetuses. Eighty fetuses underwent amniocentesis for different reasons at the prenatal diagnosis unit of the Department of Obstetrics and Gynecology, Faculty of Medicine, Dicle University. Forty of these fetuses were diagnosed with NIHF. The study included 40 women each in the NIHF (mean age: 27.69 ± 4.56 years and control (27.52 ± 5.49 years groups, who had abnormal double- or triple-screening test values with normal fetuses with gestational ages of 23.26 ± 1.98 and 23.68 ± 1.49 weeks at the time of sample collection, respectively. Amniotic fluid amino acid concentrations (intra-assay variation: 2.26-7.85%; interassay variation: 3.45-8.22% were measured using EZ:faast kits (EZ:faast GC/FID free (physiological amino acid kit; Phenomenex, USA by gas chromatography. The standard for quantitation was a mixture of free amino acids from Phenomenex. The levels of 21 amino acids were measured. The mean phosphoserine and serine levels were significantly lower in the NIHF group, while the taurine, α-aminoadipic acid (aaa, glycine, cysteine, NH4, and arginine (Arg levels were significantly higher compared to control. Significant risk variables for the NIHF group and odds coefficients were obtained using a binary logistic regression method. The respective odds ratios and 95% confidence intervals for the risk variables phosphoserine, taurine, aaa, Arg, and NH4 were 3.31 (1.84-5.97, 2.45 (1.56-3.86, 1.78 (1.18-2.68, 2.18 (1.56-3.04, and 2.41 (1.66-3.49, respectively. The significant difference between NIHF and control fetuses suggests that the amniotic fluid levels of some amino acids may be useful for the diagnosis of NIHF.

  17. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  18. The correlation between histologic placentitis and amnionitis and the amnioniotic fluid's inflammatory cytokines in case of spontaneous pre-term labor with intact membrane

    Directory of Open Access Journals (Sweden)

    Agus Abadi

    2001-12-01

    Full Text Available Pre-term labor is presumed to result from spreading of lower genital infection to upper part, subsequently to decidual and choioamniotic tissues. Host response to this injury include the expression of protein which is responsible to the inflammatory reactions. The expression of the inflammatory cytokines such as IL-1β, IL-6, IL-8 and TNF-α increase in case of infection.These cytokines may play an essential role in the pathophysiology of spontaneous pretem labor with intact membrane.An observational analytic cohort study was caried out on cases of spontaneous pre-tefln labor with intact membrane. The objectives of this study are to examine the relationship between l the histologic amnionitis and placentitis and the incidence of preterm delivery,2 the expression of amniotic fluid's IL-1β, IL-6, IL-8 and TNF-α and the incidence of preterm delivery, 3 the level of amniotic fluid's IL-1β, IL-6, IL-8 and TNF-α and the grade of histologic amnionitis and placentitis in case of pre-term labor with intact membrane. Cases of spontaneous Pre'teftn labor with intact membrane which underwent transabdominal amniocentesis at admission and managed as standard procedure for pre-term labor with intact membrane. Atl of the cases were observed until the delivery of the baby, eithir preterm or term. The membrane and the placentawere cut postnatally and then the histologic acute inflammation eyaluated based on the criteria of Salafia.The level of amniotic fluid IL-1β, IL-6, IL-8 and TNF-α were analyzed quantitatively by Elisa method. This study showed thet the degree of histologic amnionitis and placentitis, and the level of amniotic fluid's IL-1β, IL-6, IL-8 and TNF-α were significantly higher in pre-term compared to terrn deliveries (p<0.05 and lhere were a positive correlation between the grade of histoLogic inflammation and the level of amniotic fluid's cytokines (Spearmann Rank Conelation test; p<0,05 in cases of preterm labor with intact membrane. The

  19. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  20. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.

    Directory of Open Access Journals (Sweden)

    Ron M McCullough

    Full Text Available OBJECTIVE: As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. STUDY DESIGN: The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA-licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. RESULTS: NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥ 35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5% with 2.61% yielding a positive NIPT result. CONCLUSION: NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the

  1. Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

    Directory of Open Access Journals (Sweden)

    Vanessa Vigna Goulart

    2016-04-01

    Full Text Available Summary A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP, which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21, 18, 13 (T13/18 and monosomy X (45X, with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD. Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31 was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%, amniocentesis (n=66, 72% and cordocentesis (n=4, 4%. Major malformations were present in 45 (49%; with hydrops in 32 (35% fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17% and T13/18 (n=2/25, 8%, p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92. Of these, 60% (33/55 showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21 and 29% (45X, p= 0.01]. FD occurred in 55 (60% gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36% and T13/18 (n=16/25, 64%, p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001. In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; 95CI=0.27- 0.85, p=0.005. No predictive factors were identified in the T13/18 group. Intra- uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.

  2. A review of trisomy X (47,XXX

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    Sutherland Ashley

    2010-05-01

    Full Text Available Abstract Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression, and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and

  3. 产前筛查5928例结果与影响因素分析%Analysis of prenatal screening results and influence factors of 5 928 cases

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    杭春梅

    2015-01-01

    目的:探讨使用软件模型对孕中期孕妇产前筛查唐氏综合征的风险评估价值。方法:收治孕妇5928例,分别对孕妇的多项血清学指标进行检测,并以之为独立变量,用LifeCycle评估软件,对孕中期胎儿发生唐氏综合征的风险进行评估。结果:5928例孕妇中,唐氏综合征高风险孕妇252例,筛查的阳性率4.25%;产前经羊水穿刺细胞培养确诊2例。结论:孕中期孕妇进行唐氏综合征的筛查具有重要作用,能够对胎儿患唐氏综合征的风险进行有效估计和预测,是预防唐氏综合征的重要途径。%Objective:To explore the risk assessment value of soft machine model used for prenatal screening for Down's syndrome in the second trimester pregnant women.Methods:5 928 cases of pregnant women were selected.A number of serological indexes of pregnant women were detected.They were considered as independent variables,with LifeCycle assessmen software. Down's syndrome risk was assessed at the second trimester.Results:In 5 928 cases of pregnant women,pregnant women with high risk of Down's syndrome were in 252 cases,and the positive rate of screening was 4.25%;2 cases were confirmed by prenatal amniocentesis cell culture.Conclusion:Screening for Down's syndrome of the second trimester pregnant women has an important role.It can effectively evaluate the risk of Down syndrome rates.It is an important way to prevent Down's syndrome.

  4. Comparison of human amniotic fluid-derived and umbilical cord Wharton's Jelly-derived mesenchymal stromal cells: Characterization and myocardial differentiation capacity

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    Jing Bai; Yuan Hu; Yi-Ru Wang; Li-Feng Liu; Jie Chen; Shao-Ping Su; Yu Wang

    2012-01-01

    Objective To compare the characterization and myocardial differentiation capacity of amniotic fluid-derived mesenchymal stromal cells (AF MSCs) and umbilical cord Wharton's Jelly-derived mesenchymal stromal cells (WJ MSCs). Methods The human AF MSCs were cultured from amniotic fluid samples obtained by amniocentesis. The umbilical cord WJ MSCs were obtained from Wharton's Jelly of umbilical cords of infants delivered full-term by normal labor. The morphology, growth curves, and analyses by flow cytometry of cell surface markers were compared between the two types of cells. Myocardial genes (GATA-4, c-TnT, α-actin, and Cx43) were detected by real-time PCR and the corresponding protein expressions were detected by Western blot analysis after myocardial induced in AF MSCs and WJ MSCs. Results Our findings revealed AF MSCs and WJ MSCs shared similar morphological characteristics of the fibroblastoid shape. The AF MSCs were easily obtained than the WJ MSCs and had a shorter time to reach adherence of 2.7 ± 1.6 days to WJ MSCs of 6.5 ± 1.8 days. The growth curves by MTT cytotoxic assay showed the AF MSCs had a similar proliferative capacity at passage 5 and passage 10. However, the proliferative capacities of WJ MSCs were decreased at 5 passage relative to 10 passage. Both AF stem cells and WJ stem cells had the characteristics of mesenchymal stromal cells with some characteristics of embryonic stem cells. They express CD29 and CD105, but not CD34. They were positive for Class I major histocompatibility (MHC I) antigens (HLA-ABC), and were negative, or mildly positive, for MHC Class II (HLA-DR) antigen. Oct-4 was positive in all the two cells types. Both AF MSCs and WJ MSCs could differentiate along myocardium. The differentiation capacities were detected by the expression of GATA-4, c-TnT, α-actin, Cx43 after myocardial induction. Conclusions Both AF MSCs and WJ MSCs have the potential clinical application for myogenesis in cardiac regenerative therapy.

  5. Chromosome karyotype analysis of amniotic fluid cells of 1 466 pregnant women in Yangzhou%扬州地区1466例孕妇羊水细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    陈剑; 徐贵江

    2014-01-01

    Objective To explore the clinic value of chromosome karyotype analysis of amniotic fluid cells in prenatal diagnosis . Methods 1 466 cases of pregnant women who had the prenatal diagnosis indexes were selected ,and their amniotic fluid specimens were collected through amniocentesis guiding by type‐B ultrasonic around the 16th to 24th week .Amniotic fluid cells were gained after a successful cell culture .G banding was used for the karyotype analysis of amniotic fluid cells .Results The one‐time success rate of cultivation for amniotic fluid cells was 99 .8% .In 1 466 cases of pregnant women ,there were 16 cases of abnormal karyotype polymorphism (including 12 cases of trisomy 21 ,1 case of trisomy 18 ,and 3 cases of Chromosome abnormalities) and 3 cases of chromosomal polymorphism .Conclusion The chromosome karyotype analysis of amniotic fluid cell is still an irreplaceable test in prenatal diagnosis .%目的:探讨孕妇羊水细胞染色体核型分析在产前诊断中的临床应用价值。方法选择孕16~24周、具有产前诊断指征的孕妇1466例,在B超引导下行羊膜腔穿刺抽取羊水。经过羊水细胞培养增殖成功后收获细胞,G显带检查分析羊水细胞的染色体核型。结果羊水细胞一次性培养成功率为99.8%。1466例孕妇中,检出16例异常核型(其中12例21三体,1例18三体,3例染色体异常)和3例染色体多态性。结论羊水细胞染色体核型检查仍然是产前诊断中不可替代的手段。

  6. Diagnóstico molecular de cromosomopatías fetales en Costa Rica

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    Wendy Malespín-Bendaña

    2009-12-01

    Full Text Available Justificación y objetivos: En Costa Rica, el diagnóstico de anomalías cromosómicas fetales se realiza solo mediante el análisis citogenético convencional de cromosomas obtenidos de cultivos celulares. Además de que la espera por los resultados puede ser larga, con alguna frecuencia fracasa el cultivo, por contaminación o por mala calidad de la muestra, o las figuras mitóticas no se pueden analizar, por lo que es necesario disponer de una metodología sencilla y barata, para obtener un diagnóstico prenatal rápido y fiable de trisomía 21, 18 ó 13, en embarazos de alto riesgo genético sometidos a amniocentesis o cordocentesis. Métodos: Se diseñaron tres PCRs multiplex para amplificar cuatro distintas repeticiones cortas en tándem, de cada uno de los cromosomas 21, 18 y 13. Se colectaron 93 muestras (88 líquidos amnióticos y 5 sangres fetales, recibidas en el laboratorio entre 2006 y 2008, con solicitud de análisis cromosómico. Los resultados de la reacción en cadena de la polimerasa cuantitativa fluorescente, fueron comparados con el cariotipo obtenido de las mismas muestras para demostrar la fiabilidad del ensayo Resultados: Para este grupo de datos, la exactitud del ensayo fue del 100% y se consiguió obtener resultados en 48 horas. Se logró realizar el análisis de repeticiones cortas en tándem en el 77% de las muestras en las que no se pudo obtener crecimiento celular. Conclusión: La reacción en cadena de la polimerasa cuantitativa fluorescente demostró ser una metodología sencilla, fiable y rápida, por lo que podría convertirse en una herramienta complementaria del análisis cromosómico convencional. La obtención de resultados rápidos en casos de diagnóstico prenatal podría disminuir el periodo de ansiedad parental por la espera de los resultados, así como permitir un mejor abordaje terapéutico de los fetos afectados.

  7. 18-三体综合征胎儿产前超声表现分析%Analysis the Prenatal Ultrasonography Manifestation of Trisomy 18 Syndrome

    Institute of Scientific and Technical Information of China (English)

    张征

    2015-01-01

    Objective To explore the sonographic appearances of fetuses with trisomy 18 syndromeand the clinical significance.MethodsThe ultrasound ifndings of 24 cases of trisomy 18 conifrmedby amniocentesis or cordocentesis were evaluated.Results 24 cases had at least 2 parts ofsonographicanomalie, fetal cardiac anomalies were the most common among all the cases, the less abnormal sonographic findings included choroid plexus cysts, short limbsmeasurement or abnormal gestures, polyhydramnios,the other abnormal sonographic findings included fetalgrowth restriction, singleumbilical artery, fetal head in the shape of strawberry, omphalocele, esophagealatresia, absence of the corpus callosum. Dandy—Walker syndrome, ventriculomegaly,abnormal systolic/diastolic ratio (S/D) of umbilical artery,umbilical cord cyst, diaphragmatichernia. ConclusionThe evaluationof prenatal ultrasound screening is effective for the prenatal diagnosis fetus with trisomy 18 conifrmed.%目的探讨18-三体综合症胎儿的产前超声表现及超声检查临床价值。方法回顾性分析24例经羊膜腔穿刺或脐血穿刺染色体核型检查确诊为18-三体综合征胎儿的超声表现。结果确诊的24例18-三体综合征胎儿均有两个及以上异常超声表现,常见超声表现主要为心脏畸形,其次是脉络丛囊肿,四肢骨骼或姿势异常,羊水多,还可见到胎儿生长受限,单脐动脉,草莓头,脐膨出,食道闭锁,胼胝体缺失、Dandy-Walker畸形、侧脑室扩张、脐动脉血流S/D升高、脐带囊肿1例、膈疝等。结论产前超声筛查对18-三体综合征胎儿的产前检出具有重要意义。

  8. Successful treatment of Rh alloimmunization in a twin pregnancy: case report

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    Rahimi Sharbaf F

    2008-09-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin-top:0in; mso-para-margin-right:0in; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0in; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin;} Background: The prevalence of Rh alloimmunization has decreased following the use of anti-D immunoglobulin. With serial amniocentesis, Doppler sonography of the middle cerebral artery and treatment of anemia with intrauterine blood transfusion, perinatal mortality has declined. However, Rh alloimmunization in twin pregnancies poses a diagnostic and therapeutic challenge."n"n Case report: We are reporting, for the first time in Iran, the successful treatment of severe Rh alloimmunization in a dichorionic- diamnionic twin pregnancy leading to the live births of both neonates. Before treatment, the fetal hemoglobin levels were 3.1g/dL and 3.9g/dL, with ascites in both fetuses. The fetuses were treated with several IUTs."n"n Results: After treatment, the neonates were delivered, weighing 2200 and 2300g, with good Apgar scores, at a gestational age of 34 weeks. "n"n Conclusion: 10% of population in Iran is Rh-negative, although Prophylaxis for Rh alloimmunization is universal, as other part of the world it cannot irrigated. For the best management of these cases, we need a well-equipped referral center."n"n Keywords: Twin, pregnancy, Rh alloimmunization, intrauterine blood transfusion, Doppler, middle cerebral

  9. 胎儿颈项透明层厚度联合血清学检测在唐氏综合征筛查中的应用%Application of thickness of fetal nuchal translucency combined with serological test in screening of Down's syndrome

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    刘丽华; 卢小青; 刘聪慧; 张学辉; 夏凤艳; 茅碧文; 吴立新

    2013-01-01

    from August 2009 to February 2012 were selected,the chickness of NT was detected at 11-14 gestational weeks by ultrasound,NT ≥2.5 mm was designed as high risk; the levels of maternal serum AFP,uE3,and β-HCG were detected at 15-21 gestational weeks,combing with maternal body weight,age,and gestational week,a special risk assessment software of Down's syndrome was used to conduct risk assessment; the combined risk degree more than 1/270 was designed as positive among the pregnant women receiving Down's syndrome during the second trimester of pregnancy; the high risk pregnant women received genetic consultation,in the case of informed consent,amniocentesis was performed,chromosomal examination was conducted to diagnose definitely; the screening results of single NT or serological test and joint detection were compared.Results There was no statistically significant difference in detection result between NT screening and serological test; if one detection result was positive,the sensitivity of joint detection of NT screening and serological test increased,the rate of missed diagnosis reduced,but the specificity also decreased,the positive predictive value was the lowest; if two detection results were positive,the sensitivity of joint detection of NT screening and serological test decreased,the rate of missed diagnosis increased,but the specificity also increased,the positive predictive value was the highest.Conclusion NT screening and serological triple test cant replace each other,if one detection result is positive,joint detection of NT and serological test can improve the detection rate of positive patients,reduce the missed diagnostic rate; if two detection results are positive,joint detection can enhance the exclusive ability of negative patients,and improve the pertinence of invasive amniocentesis.

  10. 广州地区6000例羊水细胞染色体核型分析及其产前诊断价值探讨%Investigation on 6 000 cases of chromosomal karyotypes of amniotic fluid cells and their prenatal dianostic values in Guangzhou area

    Institute of Scientific and Technical Information of China (English)

    刘海波; 丘文君; 郑育红; 赖炜强; 孙筱放

    2015-01-01

    目的:分析羊水细胞染色体,比较不同异常核型的发生率及其在产前诊断中的应用价值。方法选择2010年1月至2013年9月到该院就诊有产前诊断指征的孕妇6000例,行羊膜腔穿刺术、传代法羊水细胞培养及胎儿染色体核型分析。结果6000例羊水培养成功5994例(99.90%),异常核型193例(3.22%)。其中,染色体数目异常108例,占异常核型的55.96%,以21三体为主,占数目异常的67.59%(73/108);结构异常60例,占异常核型的31.09%,其中平衡性结构重排38例(19.69%),非平衡性结构重排22例(11.40%);嵌合体25例(12.95%)。将孕妇按进行穿刺的首要指征分为6组,血清学筛查高风险组和高龄组分别占受检人数41.62%和33.70%,B超检查示胎儿异常组和夫妇一方染色体异常组的核型异常检出率分别为5.56%和20.00%,与其他组比较差异有统计学意义( P<0.05)。结论传代法羊水细胞体外培养对核型分析具有实用性。羊水染色体核型分析是安全、有效的诊断胎儿染色体病的方法。%Objective To analyze the chromosoms of amniotic fluid cells ,to compare the occurrence rate of different karyo‐types an dto investigate their application values in prenatal diagnosis .Methods A total of 6 000 pregnant women with the prenatal diagnostic indications came to our hospital from January 2010 to September 2013 were performed the amniocentesis ,amniotic fluid cell passage culture and fetal chromosomal karyotypes analysis .Results Among 6 000 cases of amniotic fluid cell culture ,5 594 ca‐ses(99 .90% ) were succeeded and 193 cases(3 .22% ) were abnormal karyotypes ,in which 108 cases were the chromosomal number‐ical abnormality ,acounting for 55 .96% of abnormal karyotypes ,Down′s syndrome was predominant and accounted for 67 .59% of chromosomal numberical abnormality .There were 60 cases (31

  11. Diagnóstico molecular de cromosomopatías fetales en Costa Rica Molecular Diagnosis of Fetal Chromosomal Defects in Costa Rica

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    Wendy Malespín-Bendaña

    2009-12-01

    Full Text Available Justificación y objetivos: En Costa Rica, el diagnóstico de anomalías cromosómicas fetales se realiza solo mediante el análisis citogenético convencional de cromosomas obtenidos de cultivos celulares. Además de que la espera por los resultados puede ser larga, con alguna frecuencia fracasa el cultivo, por contaminación o por mala calidad de la muestra, o las figuras mitóticas no se pueden analizar, por lo que es necesario disponer de una metodología sencilla y barata, para obtener un diagnóstico prenatal rápido y fiable de trisomía 21, 18 ó 13, en embarazos de alto riesgo genético sometidos a amniocentesis o cordocentesis. Métodos: Se diseñaron tres PCRs multiplex para amplificar cuatro distintas repeticiones cortas en tándem, de cada uno de los cromosomas 21, 18 y 13. Se colectaron 93 muestras (88 líquidos amnióticos y 5 sangres fetales, recibidas en el laboratorio entre 2006 y 2008, con solicitud de análisis cromosómico. Los resultados de la reacción en cadena de la polimerasa cuantitativa fluorescente, fueron comparados con el cariotipo obtenido de las mismas muestras para demostrar la fiabilidad del ensayo Resultados: Para este grupo de datos, la exactitud del ensayo fue del 100% y se consiguió obtener resultados en 48 horas. Se logró realizar el análisis de repeticiones cortas en tándem en el 77% de las muestras en las que no se pudo obtener crecimiento celular. Conclusión: La reacción en cadena de la polimerasa cuantitativa fluorescente demostró ser una metodología sencilla, fiable y rápida, por lo que podría convertirse en una herramienta complementaria del análisis cromosómico convencional. La obtención de resultados rápidos en casos de diagnóstico prenatal podría disminuir el periodo de ansiedad parental por la espera de los resultados, así como permitir un mejor abordaje terapéutico de los fetos afectados.Justification and aims: In Costa Rica, the diagnosis of chromosomal fetal anomalies is

  12. Diagnóstico prenatal del pie bot Prenatal diagnosis of clubfoot

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    Julio Javier Masquijo

    2011-12-01

    Full Text Available Introducción. El pie bot es una de las anomalías músculo- esqueléticas congénitas más frecuentes. La utilización de la ecografía para la detección prenatal del pie bot ha avanzado rápidamente en la última década, pero las publicaciones han presentado una gran variabilidad de opiniones en cuanto a la eficacia del método, la asociación con otras patologías y la necesidad de realizar amniocentesis para análisis del cariotipo. Objetivos. Analizar en qué porcentaje de pacientes se realizó diagnóstico prenatal del pie bot, evaluar la opinión de las madres al respecto y aclarar algunos conceptos revisando la bibliografía disponible a la fecha. Métodos. Se analizó retrospectivamente un grupo de 54 pacientes consecutivos con diagnóstico de pie bot tratados en el período enero 2008-junio 2010. Se documentaron el número de ecografías realizadas durante el embarazo, el tipo de ecografía realizada (2D, 3D o 4D y la semana de gestación al momento del diagnóstico. Las madres fueron encuestadas a fin de conocer su opinión con respecto al diagnóstico prenatal de esta deformidad. Resultados. Se realizaron 3,2 ecografías promedio durante el embarazo (r, 1-7. En el 25% (13/52 de los casos se realizó diagnóstico prenatal. El diagnóstico fue realizado en 7 casos con ecografía 2D, en 4 con 3D y en 2 con 4D, y en promedio se efectuó a la semana 22 (r, 20-28. En ningún paciente se llevó a cabo diagnóstico temprano, en 12 fue tardío y en 1 muy tardío. Conclusión. El diagnóstico prenatal permite a los padres de prepararse psicológicamente y asesorarse sobre la patología. En nuestra serie, el 90,4% se mostró a favor de conocer previamente el diagnóstico.Introduction. Clubfoot is one of the most frequent congenital musculoskeletal anomalies. The use of ultrasound for prenatal detection of clubfoot has advanced rapidly in the last decade, but publications report a great variability in opinions regarding the effectiveness of

  13. Clinical value of eatly-mid trimester ultrasound scan in the diagnosis of ehromosomal aneuploidy abnormalities%早中孕产前超声检查在染色体非整倍体异常胎儿中的诊断价值

    Institute of Scientific and Technical Information of China (English)

    陈秋妍; 张茜; 郭红梅; 曾秀梅

    2016-01-01

    目的:探讨早中孕期产前超声检查在染色体非整倍体异常胎儿中的诊断价值。方法对2014年3月~2015年10月在我院经羊水细胞、脐血细胞及绒毛细胞染色体核型分析诊断为非整倍体异常的38例胎儿早中孕期(11~28周)产前超声异常声像图进行总结分析。结果38例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常32例(84.2%,32/38),包括21-三体17例(17/23)、18-三体11例(11/11)、13-三体2例(2/2),45,X 2例(2/2)。其中单发畸形10例(31.2%,10/32),多发畸形12例(37.6%,12/32),仅表现为超声软指标10例(31.2%,10/32)。18-三体、13-三体、45,X胎儿均有超声结构异常,18-三体胎儿中8例表现为超声结构异常合并软指标异常。21-三体胎儿中10例,仅表现为超声软指标异常,7例表现为超声结构异常合并软指标异常。38例非整倍体异常胎儿中以心脏畸形检出例数居多(31.5%,12/38),而颈部淋巴水囊瘤是45,X胎儿的典型超声表现。结论非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱和超声软指标,早中孕期产前超声检查作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要价值。%Objective To investigate the clinical application of eatly-mid trimester ultrasound scan in the diagnosis of ehromo-somal aneuploidy abnormalities .Methods Early-mid trimester ultrasound imaging features in 38 aneuploidy abnormal fetuses which were diagnosed by CVS , amniocentesis and umbilical vein puncture in our hospital from April 2014 to Octocber 2015 were analyzed retrospectively .Results 38 cases of aneuploidy abnormalities dectected by CVS , amniocentesis and umbilical vein puncture were examined by prenatal ultrasound .Of these cases, 32 were found abnormalities , including 17 with

  14. 36例遗传性耳聋的产前诊断分析

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    李玲; 麦明琴; 曾玉坤; 饶腾子; 丁红珂; 刘玲

    2015-01-01

    目的:通过超声引导下介入性穿刺术获取胎儿附属物标本进行遗传性耳聋基因产前诊断,降低遗传性耳聋患儿的出生率。方法孕11~14周孕妇采用超声引导下绒毛活检术抽取胎盘绒毛;孕16周后孕妇在超声引导下抽取羊水;孕25周以上因有其他项目需同时产前诊断的,则在超声引导下抽取脐血。应用短串重复序列连锁分析(STR)进行母血污染鉴别,遗传性耳聋基因芯片检测技术对GJB2、GJB3、SLC26A4和mtDNA12SrRNA 4个耳聋基因进行测序。结果36例产前介入性穿刺术均一次成功。36例标本经S T R鉴定均排除母血污染。7例未检测到明确耳聋基因突变;16例为耳聋基因杂合突变,3例为耳聋基因杂合突变伴多态性位点突变,已出生的,生后随访新生儿听力筛查结果均正常;10例为耳聋基因双重杂合突变,经遗传咨询后,孕妇及家人选择终止妊娠。结论超声引导下行介入性穿刺术是进行遗传性耳聋基因产前诊断获取胎儿附属物标本的有效途径。联合耳聋基因芯片检测技术及STR检测,可排除母血污染,准确诊断胎儿遗传性耳聋基因型,有效降低遗传性耳聋患儿的出生率。%Objective Prenatal diagnosis tests were performed under the guidance of ultrasound by chori‐onic villus sampling ,amniocentesis and cordocentesis ,all the fetal samplings were sent to detect the hered‐itary deafness genes in order to reduce the deafness birth defects .Method Chorionic villus sampling in gestation of 11~14 weeks ,amniotic fluid by amniocentesis after 16 weeks in gestation ,umbilical cord blood sampling after 25 weeks together with other prenatal diagnosis index .Sequencing the four hereditary deafness‐related genes GJB2 ,GJB3 ,SLC26A4 and mtDNA12SrRNA ,all the samples were excluded the maternal blood contamination by short tandem repeat test (STR) .Results In 36 cases ,no definite deaf

  15. 米非司酮配伍米索前列醇用于12~20周妊娠引产疗效分析%Effect analysis of mifepristone cooperating with misoprostol on the induction of labor in pregnancy from 12 to 20 weeks

    Institute of Scientific and Technical Information of China (English)

    李萍

    2013-01-01

    Objective To discuss the effect of mifepristone cooperating with misoprostol on the induction of labor in pregnancy from 12 to 20 weeks. Methods 47 pregnant women of 12-20 weeks were randomly divided into two groups.The observation group were given drug induction and the discharge of residual pregnancy tissue within 24 hours were observed.The successful cases were followed up.The patients with incomplete abortion were done curettage immediately,and artificial rupture of membrane were done for few non-successful cases on the basis of drug induction. The control group were given curettage and amniocentesis induction by rivanol. Results In the observation group,the patients with complete abortion accounted for 90.625%,the patients with incomplete abortion accounted for 3.125%,the non-successful cases accounted for 6.250%.Curettage combined with drug induction could ease patients’suffering and reduce the incidence of complications for the patients with incomplete abortion by intenerate and expand cervix,which could simplify and shorten the procedure.6.25% non-successful patients were transformed into complete abortion through artificial rupture of membrane.In the control group,all of the cases underwent intrauterine manipulation consisting of 10 cases with curettage and 5 cases with amniocentesis induction by rivanol,which lead to more bleeding and pain. Conclusion Mifepristone cooperating with misoprostol on the induction of labor in pregnancy of 12-20 weeks has a better effect,less pain,less damage and better recovery.The patients' pain can be relieved obviously due to the dilatation of cervix and easy manipulation in the curettage for the patients with incomplete abortion. Artificial rupture of membrane for non-successful cases can improve the successful rate of drug induction,which is safe,effective,and worth recommending.%目的探讨米非司酮配伍米索前列醇用于12~20周妊娠引产疗效。方法对47例孕12~20周妇女进行随机分组引产

  16. 开展免费政府投入唐氏综合征筛查及诊断工作

    Institute of Scientific and Technical Information of China (English)

    徐红; 王爱婷; 李吉林; 徐立闽

    2012-01-01

    Objective: To decrease birth defects and improve new - bom population quality, local government is offering free prenatal Down syndrome screening and diagnosis to all pregnant women. Methods: Government set up a project budget and utilize the network of family planning department. With standard protocols and procedures, including the qualification of prenatal diagnosis by Wei-fang Women and Infante Hospital, the project is successfully carried out. Result: The project screened 67,406 pregnanct women with 2,692 high risk cases for trisomy 21 and trisomy 18. 1, 767 of those high risk cases went through amniocentesis, identifying 23 cases of Down syndrome, 10 cases of Edwards syndrome, 10 cases of sex chromosome defect, 2 cases of Cri - du - chat syndrome and 37 other abnormal pregnancies. All of the identified abnormal pregnancies are terminated with consent. 49 cases of chromosome polymorphism are offered genetic consultation. Conclusion; This project, financed by local government, utilizing family planning department network and ensured by reliable medical technique, achieves great advantage in preventing Down syndrome live birth. Such project bears important political, economic and social significance.%目的 为降低出生缺陷,提高出生人口素质,政府投入开展免费唐氏综合征筛查及诊断工作.方法 由政府财政投入专项资金,发挥人口计生部门网络优势,利用潍坊市妇幼保健院产前诊断资质,制定方案,规范程序,加强宣传,全面开展免费唐氏综合征产前筛查和诊断工作.结果 应用上述方法对67406例孕妇进行唐氏综合征筛查,筛查出21-三体、18-三体高风险孕妇2692例,1767例通过做羊水穿刺细胞培养,确诊唐氏综合征23例,18三体综合征10例,两性畸形10例,猫叫综合症2例,不良妊娠37例,均已终止妊娠.染色体多态性49例,均已进行优生遗传指导.结论 这种方法依靠政府财政投入,充分发挥计生网络优势,以卫生医

  17. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用%Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

    Institute of Scientific and Technical Information of China (English)

    钟萍; 林毅; 田葆东

    2011-01-01

    Objective;To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome. Methods:①78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up (Group A).②56 pregnant women with abnormal fetal ultrasound findings (Group B) and, 134 pregnant women with high risk of edwards syndrome/ patau syndrome by prenatal serological screening (Group C) were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks. Results;In high risk of 18 trisomy by serological screening, 2 cases with abnormal ultrasound findings terminated the pregnancy, 1 newborn had congenital heart disease after birth in group A. In group B, 3 cases were with 18 trisomy, 3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21 % (13/56) .Among them, 2 cases with 18 trisomy complicated with high risk of serological screening. In group C, 4 cases were with fetal abnormality, among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was2.99%(4/134).Conclusions:It is an effective method to detect 18, 13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.%目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性.方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察.②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18 ~32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析.结果:A组的18三体筛查高风险孕妇有2例出现B超检

  18. Alfafetoproteína: valores normais no líquido amniótico entre 14 e 21 semanas Alphafetoprotein: amniotic fluid normal values between 14 and 21 weeks

    Directory of Open Access Journals (Sweden)

    D. Maestri

    1998-12-01

    Full Text Available OBJETIVO: Definir uma curva de normalidade dos valores de alfafetoproteína (AFP no líquido amniótico em gestantes entre 14 e 21 semanas de gravidez no Hospital de Clínicas de Porto Alegre. MATERIAIS E MÉTODOS: Nas 137 mulheres que procuraram o diagnóstico pré-natal e tiveram indicação de coleta de líquido amniótico. A alfafetoproteína foi dosada em todas as amostras por enzima imunoensaio. Foram selecionadas 109 gestações normais (sem malformações, cariótipo normal, não-gemelares e cujas amostras de líquido amniótico não eram sanguinolentas. Essas foram divididas quanto à idade gestacional e tiveram calculadas as medianas dos valores de AFP e seus múltiplos. RESULTADOS: As medianas da alfafetoproteína (KUI/ml para cada idade gestacional foram as seguintes: 14 semanas:16,32; 15 semanas:14,36; 16 semanas: 13,43; 17 semanas:10,93; 18 semanas: 8,22; 19 semanas: 7,35; 20 semanas: 5,62; 21 semanas:4,47. CONCLUSÃO: O estabelecimento de uma curva normal de AFP em nosso serviço permite a utilização deste exame para pacientes em risco de defeitos de fechamento de tubo neural. Permite também que sejam analisadas amostras enviadas para estudos citogenéticos ou metabólicos de maneira a identificar fetos com níveis elevados de AFP que necessitarão de estudos ultrasonográficos mais detalhados pela possibilidade de defeitos morfológicos.BACKGROUND: To define the normal values of amniotic fluid alphafetoprotein in pregnant women, whose gestational ages range from 14 to 21 weeks, in the Hospital de Clínicas de Porto Alegre. MATERIAL AND METHOD: One hundred thirty seven women with indication for amniocentesis were studied. The alphafetoprotein was measured in all samples using enzyme immunoassay. One hundred and nine normal pregnancies were selected. All of these fetuses had normal cariotype and had no malformation. They were not twins and their amniotic fluid samples were not bloody. These samples were divided by their

  19. 一个婴儿恶性石骨症家系的植入前遗传学诊断%Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    袁萍; 曾艳红; 郑灵燕; 邓佳; 王静; 徐艳文; 周灿权

    2015-01-01

    目的 探讨植入前遗传学诊断在婴儿恶性石骨症出生缺陷预防中的应用.方法 对1个已明确TCIRG1基因突变的婴儿恶性石骨症家系,应用植入前遗传学诊断技术进行TCIRG1基因突变位点直接测序,并结合选择性遗传标记的单倍型构建进行连锁分析;通过突变位点的直接测序法,对产前绒毛活检和羊水穿刺样本进行遗传学诊断.结果 第3次妊娠时产前基因诊断的结果显示胎儿存在TCIRG1基因c.242delC (p.Pro81Argfs* 85)和c.1114C>T (p.Gln372*)复合杂合性突变,为遗传了父母双方的致病性突变位点的患儿,选择终止妊娠.随后通过植入前遗传学诊断方法,先后对13个胚胎单卵裂球进行遗传学分析,确定其中6个胚胎为正常,3个胚胎为携带者,4个胚胎为患者.选择了发育良好且遗传学上正常或携带者的胚胎植入母体子宫,受孕后并经产前诊断证实为正常胎儿,足月分娩后随访婴儿正常.结论 反复生育致死性遗传病的家系,在进行遗传咨询时可优先选择植入前遗传学诊断来避免患儿出生.%Objective To explore the application of preimplantation genetic diagnosis (PGD) for infantile malignant osteopetrosis (IMO).Methods For a family affected with IMO,PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene.Prenatal diagnosis was performed on the chorionic villus and amniocentesis samples by direct sequencing.Results Prenatal diagnosis showed that the fetus by the third pregnancy has carried the parental mutations [c.242delC (p.Pro81Argfs * 85) and c.1114C>T (p.Gln372 *)],and the pregnancy was terminated.PGD was subsequently performed through mutations detection and haplotype analyses following whole genome amplification (WGA) of each of 13 cells.The results showed that 6 of the 13 embryos were unaffected,3 were carriers and 4 were affected.Well developed unaffected

  20. Abnormal fetal nasal bone in prediction of 21-trisomy in the second and third trimester%中晚孕期胎儿鼻骨异常预测21-三体

    Institute of Scientific and Technical Information of China (English)

    刘彦英; 钱隽; 李谊; 赵晓虹; 郭汉涛; 许少兰; 丛淑珍

    2013-01-01

    Objective To explore the value of abnormal fetal nasal bone for screening trisomy 21 in the second and third trimester.Methods Data of 5460 pregnant women underwent prenatal ultrasound were analyzed.Routine ultrasound was performed to detect fetus and appendages.When abnormalities of fetal nasal bone were found,amniocentesis or removable cord blood karyotype were performed.Results Abnormalities of fetal nasal bone were found in 10 fetuses.Among 4 fetal nasal bone absent,1 appeared skeletal dysplasia and normal chromosome,3 were trisomy 21 combined with cardiac or other systems abnormalities.Among 6 fetuses of nasal bone hypoplasia,short nasal,one-side nasal absence or poor nasal bone ossification were detected,1 was trisomy 21 combined with other systems abnormalities,1 was normal chromosome combined with thalassemia,and the rest 4 had normal chromosome and solitary nasal bone hypoplasia not combined with other system anomalities.Conclusion Nasal bone absence is often found with ultrasound in trisomy 21 fetuses,but the value of solitary nasal bone hypoplasia for screening trisomy 21 needs further research.%目的 评价中晚孕期胎儿鼻骨异常对21-三体的诊断价值.方法 分析在我院接受胎儿产前超声检查的5460名孕妇的资料,以常规超声检查胎儿及其附属物,如发现胎儿鼻骨异常,行羊膜腔穿刺或抽取脐带血进行染色体核型分析.结果 共发现10胎鼻骨异常.4胎鼻骨缺失,其中1胎骨骼发育障碍,染色体正常;余3胎均为21-三体合并心脏或其他系统异常.6胎鼻骨发育不良,表现为鼻骨短小、一侧鼻骨缺失或鼻骨骨化不良,其中1胎为21-三体合并其他系统异常;1胎为地中海贫血,染色体正常;余4胎未合并其他系统异常,为孤立性鼻骨发育不良,染色体正常.结论 鼻骨缺失是21-三体的超声常见表现,但孤立性鼻骨发育不良对21-三体的诊断价值需要进一步探讨.