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Sample records for amniocentesis

  1. Amniocentesis and fetoscopy.

    Science.gov (United States)

    Hopkins, E L; Carey, J; Moye, R

    1982-01-01

    Amniocentesis and fetoscopy are two of several modalities used to offer information during the prenatal period of the status of the fetus. Amniocentesis is most frequently used and with continuing research is becoming an invaluable aid to prenatal diagnosis. With the recent studies of DNA characteristics of globin chains of cells obtained at amniocentesis, the need to obtain blood directly from fetal vessels to diagnose major hemoglobinopathies prenatally is rapidly diminishing. Open neural tube defects are diagnosable with alpha feto protein analysis. All chromosomal defects are accurately quantitated and more than 100 inborn errors of metabolism are predictable. Fetoscopy is a technique which has a limited utility. It should be confined to major centers where adequate midtrimester abortions are done in order to provide training for those who aspire to pursue this method. With fetal blood sampling the following conditions are detected: beta thalassemia major, Hemophilia A, sickle cell anemia, chronic granulomatous disease, galactosemia and Tay Sachs disease, all of which may be diagnosed directly. Alpha and beta thalassemia, Hemophilia B and homozygous Von Willenbrand's disease may be excluded. With fetal biopsy one can diagnose congenital bullous ichthyosiform erythroderma ichthyosis. During the last ten years the amount of information brought to our attention has also brought the expectation that the next decade will be the most fruitful period in our history in this discipline. PMID:7146020

  2. Incidence of rhesus immunisation after genetic amniocentesis.

    OpenAIRE

    Tabor, A; Jerne, D; Bock, J E

    1986-01-01

    Of 655 Rh negative women without anti-D antibody in their serum at genetic amniocentesis, 361 delivered a Rh positive infant. Prophylactic treatment with anti-D immunoglobulin was not given at amniocentesis. The women were followed prospectively, being given a screening test for antibody after amniocentesis, at delivery, and six months later. Five of these 361 women yielded a positive test result due to anti-D antibody. The immunisation rate after genetic amniocentesis was no higher than the ...

  3. Amniocentesis

    Science.gov (United States)

    ... In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies . 6th ed. Philadelphia, PA: ... In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies . 6th ed. Philadelphia, PA: ...

  4. 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 ...

  5. 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...

  6. [Amniocentesis and viral risk (hepatitis B, C virus and HIV)].

    Science.gov (United States)

    Ducarme, G; Ceccaldi, P-F; Bernuau, J; Luton, D

    2009-10-01

    Very few studies have properly addressed to the risk of fetal hepatitis B (HBV), hepatitis C (HCV) or human immunodeficiency virus (HIV) infection through amniocentesis. For HBV, this risk is low. However, knowledge of the maternal hepatitis B e antigen status is valuable in the counselling of risks associated with amniocentesis. For HCV, the risk is not well known but cannot be excluded. For HIV, it seems rational to propose a viral test before amniocentesis for patients with contamination's risk and to postpone the sampling in cases with positive results in order to obtain an undetectable HIV-1 RNA viral load. For these reasons, it can be useful to analyse for each virus the benefit of amniocentesis and the risk of mother-to-infant transmission, and to inform the patient. PMID:19679409

  7. 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

  8. 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 perception did not change after the genetic counseling session (60 %). Those who changed their feeling about the risk after counseling showed a decreased perception of the risk (p 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.

  9. Prenatal Diagnosis by Amniocentesis and Chorionic Villus Biopsy

    OpenAIRE

    Reynolds, J.L.

    1986-01-01

    Prenatal diagnosis forms only a small part of day-to-day family practice, but the techniques are of critical importance to couples at risk of having a child affected by genetic disorder. Second trimester amniocentesis will probably be replaced by first trimester chorionic villus biopsy and recombinant DNA technology, but the ethical and moral problems related to prenatal diagnosis are not so easily solved. Family physicians need to examine their own attitudes toward the handicapped before the...

  10. 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.

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

    OpenAIRE

    Kanchan Mukherjee; Kalyansree Chaudhury

    2015-01-01

    Background: Aim of current study was to estimate the benefits of amniocentesis for diagnosis of fetal chromosomal abnormalities as well as the risk of miscarriage in Indian women and thus provide local data for counselling the prospective parents contemplating amniocentesis. Methods: This retrospective study reviewed the miscarriage rate of 243 pregnant women who underwent midtrimester amniocentesis for prenatal diagnosis of fetal chromosomal abnormalities. 20 ml of amniotic fluid was asp...

  12. 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

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

    DEFF Research Database (Denmark)

    Tabor, A; Philip, J; Madsen, Mette;

    1986-01-01

    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...

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

    Science.gov (United States)

    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.

  15. 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

  16. Cytomegalovirus-associated acute hydramnios treated by amniocentesis and maternal indomethacin.

    Science.gov (United States)

    Suzumori, Nobuhiro; Hattori, Yukio; Kaneko, Saori; Suzuki, Yoshikatsu; Sugiura-Ogasawara, Mayumi

    2009-12-01

    A 22-year-old pregnant woman noticed a rapid increase of abdominal growth, uterine tenderness and irregular contraction, for which she hospitalized at 25 weeks of gestation. An ultrasound examination demonstrated a single fetus with normal anatomy and massive hydramnios. Serial therapeutic amniocentesis was performed for relief of maternal symptoms and indomethacin compress was initiated. Both the maternal and amniotic fluid IgM were positive for cytomegalovirus (CMV). Maternal compress indomethacin was discontinued at 32 weeks. Cesarean section was performed due to fetal distress at 34 weeks of gestation. A female infant was delivered and the neonatal examination was within normal limits with urine culture positive for CMV. At 1 year of age the child was developing normally with normal hearing and no clinical sequelae of intrauterine CMV infection. We postulate that serial and large volume reduction of amniotic fluid by amniocentesis and compress indomethacin in our case interrupted the natural course and provided sufficient time for the fetus to recover from the acute phase of viral infection. PMID:20021488

  17. 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.

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

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    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.

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

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    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.

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

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    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

  1. 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 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 genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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。

  7. 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.

  8. 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

  9. 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

  10. 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),

  11. 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

  12. 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.

  13. 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

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

    OpenAIRE

    Hook, E B

    1980-01-01

    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 stud...

  15. 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.

  16. 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...

  17. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... amniocentesis are Down syndrome and certain types of muscular dystrophy . Because amniocentesis can cause a miscarriage in about 1 out of 200 cases, it is usually only recommended for pregnancies in which the risk of genetic disorders or other problems is high. Chorionic Villus ...

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

    Science.gov (United States)

    ... amniocentesis are Down syndrome and certain types of muscular dystrophy . Because amniocentesis can cause a miscarriage in about 1 out of 200 cases, it is usually only recommended for pregnancies in which the risk of genetic disorders or other problems is high. Chorionic Villus ...

  19. 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 ...

  20. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... with X-linked Alport Syndrome will show abnormal staining for COL4A5 in the skin biopsy. This approach ... and enzyme tests are performed on cultured tissue cells and/or white blood cells. During amniocentesis, a ...

  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. Chorionic villus sampling

    Science.gov (United States)

    ... many different genetic conditions, including: Down syndrome Hemoglobinopathies Tay-Sachs disease Talk to your health care provider about ... chap 11. Read More Amniocentesis Biopsy Rh incompatibility Tay-Sachs disease Update Date 11/16/2014 Updated by: ...

  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. Risk of infertility following fetography and amniofetography

    International Nuclear Information System (INIS)

    297 women were subjected to prenatal diagnosis, in 220 of them amniocentesis was performed to start an amnion cell culture and 77 women (26%) were diagnosed by fetography and amniofetography, respectively. Following intra-amniotic injection of contrast medium abortion occured in 9% and premature delivery in 28.6% of the probands. The perinatal mortality was 13%. After amniocentesis the abortion rate was 3.2% and premature delivery took place in 4.5% of the patients. The perinatal mortality was but slightly increased (2.3%). The differences were statistically secured. Following fetography and amniofetography prophylactic cerclage is recommended

  5. 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.

  6. Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome

    DEFF Research Database (Denmark)

    Wulff, C B; Gerds, T A; Rode, L;

    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...

  7. 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,…

  8. Aborting a Malformed Fetus: A Debatable Issue in Saudi Arabia

    OpenAIRE

    Al-Alaiyan, Saleh; Khalid M AlFaleh

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocen...

  9. 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

  10. 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.

  11. [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.

  12. 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...

  13. 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

  14. Antenatal genetic studies in twin pregnancies.

    Science.gov (United States)

    Redwine, F O; Cruikshank, D P; Brown, J

    1984-01-01

    The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed. PMID:6741416

  15. 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

  16. 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...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... 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...

  17. 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

  18. The Incidence and Type of Chromosomal Translocations from Prenatal Diagnosis of 3800 Patients in the Republic of Macedonia

    OpenAIRE

    Vasilevska, M; Ivanovska, E; Kubelka Sabit, K; E. Sukarova-Angelovska; Dimeska, G

    2013-01-01

    Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The ove...

  19. Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce

    OpenAIRE

    Capponi, Valentina

    2016-01-01

    Prenatal diagnosis of aneuploidies and monogenic diseases is usually performed by amniocentesis or chorionic villous sampling. However, these procedures are associated with 0.5%-2% risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal plasma in 1997 has provided a new source of fetal genetic material that can be safely obtained from maternal blood and successfully processed for non invasive genetic diagnosis (NIPD). In this study is described a new a...

  20. Maternal homocystinuria: studies of an untreated mother and fetus.

    OpenAIRE

    Kurczynski, T W; Muir, W A; Fleisher, L D; Palomaki, J F; Gaull, G E; Rassin, D K; Abramowsky, C

    1980-01-01

    A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found i...

  1. 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.

  2. Is maternal serum triple screening a better predictor of Down syndrome in female than in male fetuses?

    Science.gov (United States)

    Ghidini, A; Spong, C Y; Grier, R E; Walker, C N; Pezzullo, J C

    1998-02-01

    Among euploid gestations, female fetuses have been reported to have significantly lower maternal serum alpha-fetoprotein (MSAFP) and higher human chorionic gonadotropin (hCG) levels than male fetuses. Since in maternal serum triple screening, low MSAFP and high hCG MOM independently confer greater risk of a Down syndrome fetus, we investigated the hypothesis that maternal serum triple screening is more efficacious at detecting female than male Down syndrome fetuses. A database containing all karyotypes from amniocentesis performed between August 1994 and August 1996 was accessed. All trisomy 21 cases were identified. The male-to-female ratio among trisomy 21 fetuses detected at amniocentesis after abnormal maternal serum triple screening was compared with that among trisomy 21 fetuses detected at amniocentesis for advanced maternal age (AMA), which served as the control group. Statistical analysis utilized chi-square, Fisher's exact test, and Student's t-test. A P value of less than 0.05 was considered statistically significant. Forty-nine trisomy 21 fetuses were detected in the women who underwent amniocentesis because of abnormal triple screening and 311 were detected in the control group. The proportion of male fetuses among the triple screening group was not significantly different from that of the AMA group (55 per cent vs. 57 per cent; P=0.9). Our study had a power of 80 per cent to detect a difference of 25 per cent in the male-to-female ratio (alpha=0.05, beta=0.20). The reported differences in MSAFP and hCG levels between male and female euploid fetuses do not appear to affect the sex ratio among Down syndrome fetuses detected because of an abnormal maternal serum triple screening. PMID:9516012

  3. Defending Biomedical Authority and Regulating the Womb as Social Space

    OpenAIRE

    Kramer, Anne-Marie

    2010-01-01

    Abstract The issue of abortion has been the topic of heated and frequent debate in post-Communist Poland. Parliamentary debate in 1998?9 centred around a legislative attempt to restrict prenatal testing, specifically amniocentesis, in order to further reduce the numbers of abortions carried out, as it was argued to inevitably result in the termination of pregnancy. Medical professionals are rarely visible a...

  4. Studies on the origin of human amniotic fluid cells by immunofluorescent staining of keratin filaments.

    OpenAIRE

    Chen, W. W.

    1982-01-01

    Cultivated cells obtained by amniocentesis for antenatal diagnosis were examined for the presence of keratin filaments by immunofluorescent staining techniques. In primary cultures, cells in fibroblast type colonies do not possess keratin filaments whereas cells in epithelial type colonies show positive staining of keratin fibres. The majority of cells in amniotic fluid type colonies also stain positively with antikeratin antibody. After the primary cells have been subcultured, most of them a...

  5. In Vitro Study of Amniotic Fluid Gram Stain: Effect of Centrifugation

    OpenAIRE

    Gauthier, Daniel W.; Wilfredo Torres; Meyer, William J.; Lewis, Barbara G.; Vernon, Michael O.; Janda, William M.

    1994-01-01

    Objective: Gram stain of amniotic fluid (AF) is used to detect intraamniotic infection. The purpose of this study was to determine if centrifugation improved the ability of AF Gram stain to detect bacteria. Methods: AF obtained by amniocentesis from patients with preterm labor (PTL) or preterm premature rupture of membranes (PPROM) was pooled. Individual AF samples as well as the pooled sample had a negative Gram stain for microorganisms or white blood cells (WBCs) and negative cultures. With...

  6. Diagnosi prenatale non invasiva di malattie monogeniche attraverso la ricerca e l'isolamento di cellule e DNA fetale nel sangue materno

    OpenAIRE

    Contini, Antonella

    2012-01-01

    Prenatal genetic diagnosis of monogenic diseases and chromosomal abnormalities is usually performed collecting fetal samples through villocentesis or amniocentesis. These invasive procedures are associated with 0.5-1% risk for the fetus. Due to it, in recent years, much effort has been made to develop non invasive prenatal diagnosis (NIPD). Two potential non invasive approaches involve the analysis of fetal cells and cell-free fetal DNA (cffDNA) found in the maternal circulation. The prese...

  7. Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

    OpenAIRE

    Lim, Ji Hyae; Park, So Yeon; Ryu, Hyun Mee

    2013-01-01

    Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or amniocentesis. However, such invasive diagnostic tests are expensive, require expert technicians, and...

  8. Noninvasive prenatal diagnosis of fetal RhD status using cell-free fetal DNA in maternal plasma with TaqMan® real-time PCR assay

    OpenAIRE

    Rekhviashvili, Tea

    2007-01-01

    Prenatal diagnosis is now part of established obstetric practice in many countries. However, conventional methods of prenatal diagnosis of obtaining fetal tissues for genetic analysis, including amniocentesis and chorionic villus sampling, are invasive and constitute a finite risk to the unborn fetus1. At present, it is widely accepted that both intact fetal cells as well as cell-free fetal DN A are present in the maternal circulation and can be recovered for non-invasive prena...

  9. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    OpenAIRE

    Gianfranca Damiani; Margherita Vinciguerra; Cristina Jakil; Monica Cannata; Filippo Cassarà; Francesco Picciotto; Giovanna Schillaci; Valentina Cigna; Disma Renda; Aldo Volpes; Francesca Sammartano; Samuela Milone; Adolfo Allegra; Cristina Passarello; Filippo Leto

    2014-01-01

    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 meth...

  10. Tracking fetal development through molecular analysis of maternal biofluids☆

    OpenAIRE

    Edlow, Andrea G; Bianchi, Diana W.

    2012-01-01

    Current monitoring of fetal development includes fetal ultrasonography, chorionic villus sampling or amniocentesis for chromosome analysis, and maternal serum biochemical screening for analytes associated with aneuploidy and open neural tube defects. Over the last 15 years, significant advances in noninvasive prenatal diagnosis (NIPD) via cell-free fetal (cff) nucleic acids in maternal plasma have resulted in the ability to determine fetal sex, RhD genotype, and aneuploidy. Cff nucleic acids ...

  11. Foetotoxiciteit van methyleenblauw in de rat ; een verkennend onderzoek

    OpenAIRE

    Piersma AH; Verhoef A; de Liefde A; Nesselrooij BPM van; Garbis-Berkvens JM

    1991-01-01

    Several clinical centers have reported an increased incidence of intestinal atresias in twin pregnancies. In all cases only one infant of the twin appeared to be affected. A correlation has been suggested with the use of methylene blue. This dye is injected into one amniotic sac in order to discriminate between amniotic fluids of both conceptuses when amniocentesis is performed, around the 16th week of pregnancy. The etiology as well as the nature of these intestinal atresias are matters of d...

  12. Non-Invasive Prenatal Testing

    OpenAIRE

    McGillivray, Barbara C.

    1988-01-01

    The rate of newborns with trisomy 21 (Down syndrome) who have been referred to our pediatric newborn clinic is very high. This shows that prenatal screening in the region is not carried out well. Prenatal diagnosis and screening methods include invasive prenatal diagnosis methods (amniocentesis, chorionic villus sampling (CVS), and cordocentesis) and non-invasive prenatal diagnosis (NIPT) which cell free fetal DNA (cffDNA) screening of maternal blood samples. After the discovery of the signs ...

  13. Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus

    OpenAIRE

    Ke, Wei-Lin; Zhao, Wei-Hua; Wang, Xin-Yu

    2015-01-01

    Objective: The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. Methods: A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and th...

  14. Feasibility of scanning fetal anatomy in the first trimester of gestation

    OpenAIRE

    To, Hong

    2012-01-01

    Objectives: This study aims to evaluate the feasibility of performing an anatomy scanned for fetal abnormalities at the time of nuchal translucency (NT) measurement in Vietnamese population Material and methods: In a prospective study, 2500 singleton pregnancies measured fetal NT and scanned structural anatomy in the first trimester; then checked fetal morphology systematically at 18-24 weeks and followed up to their delivery. According to ultrasonographic abnormalities and amniocentesis, ...

  15. A Surviving Child With Complete Proximal Tracheal Atresia

    OpenAIRE

    Haight, Ken; Sankaran, Koravangattu; Shokeir, Mohamed

    1984-01-01

    An infant was born with an unusual combination of primitive foregut anomalies consisting of complete proximal tracheal atresia, proximal esophageal atresia and distal tracheoesophageal fistula. Before the birth, the family physician suspected an anomaly of the upper airway or esophageal occlusion on the basis of hydramnios evident at the thirty-third to thirty-fourth week of gestation, and earlier amniocentesis which indicated a normal level of α-fetoprotein. He consulted the hospital obstetr...

  16. Mosaic partial trisomy 17q2

    OpenAIRE

    King, P. A.; Ghosh, A; Tang, M

    1991-01-01

    Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal comple...

  17. Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

    OpenAIRE

    Wang, Ting; Duan, Chengying; Shen, Cong; Xiang, Jingjing; He, Quanze; Ding, Jie; Wen, Ping; Zhang, Qin; Wang, Wei; Liu, Minjuan; LI Hong; Li, Haibo; Zhang, LiLi

    2016-01-01

    Background To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT). Case presentation After routine prenatal serum screening, the plasma of high-risk pregnant women were tested via NIPT, and the NIPT results were further validated by fetal karyotype analysis and array-based comparative genomic hybridization (aCGH) through amniocentesis. In addition, the chromosome karyotypes of the parents were also analyzed. NIPT results indicated subchromosomal abnormalit...

  18. Molar Pregnancy with a Co-Existing Viable Fetus

    OpenAIRE

    Ruya Deveer

    2014-01-01

        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 preg...

  19. 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.

  20. 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.

  1. 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.

  2. Confined placental mosaicism and its impact on confirmation of NIPT results.

    Science.gov (United States)

    Mardy, Anne; Wapner, Ronald J

    2016-06-01

    Non-invasive prenatal testing (NIPT) has been widely used to screen for common aneuploidies since 2011. While NIPT is highly sensitive and specific, false positive results can occur. One important cause of false positive results is confined placental mosaicism (CPM). This can occur through a mitotic nondisjunction event or through aneuploidy rescue. CPM is usually associated with normal fetal outcomes, but has been associated with intrauterine growth restriction, pregnancy loss, or perinatal death in some cases. CPM may also be a marker for uniparental disomy. Given that NIPT can result in false positives, positive results should be confirmed with invasive testing before any irreversible procedure is performed. Whether to perform CVS or amniocentesis to confirm a positive NIPT result is controversial. While CVS can be performed earlier than amniocentesis, CPM can also cause false positive results. Our practice is to proceed with CVS, and to examine all cell lines using both an uncultured sample using fluorescence in situ hybridization (FISH) or short-term culture, as well as long-term culture of the sample. If the results all show aneuploidy, the results are reported to the patient. Otherwise, if the results are also mosaic, amniocentesis is recommended and analyzed by both FISH and karyotype. © 2016 Wiley Periodicals, Inc. PMID:27184347

  3. 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.

  4. [Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].

    Science.gov (United States)

    Veszprémi, B; Baranyai, Z; Klujber, L; Arany, A

    1992-04-01

    Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture. The results of the examinations made possible to advise the patient to carry out the pregnancy. The examinations after delivery confirmed the newborn to be a carrier. PMID:1522989

  5. 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.

  6. 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.

  7. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  9. 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.

  10. Prenatal diagnosis in Sweden: organisation and current issues.

    Science.gov (United States)

    Bui, T H; Kristoffersson, U

    1997-01-01

    Invasive prenatal diagnosis was introduced in Sweden in the early 1970s and is an integral part of the public health care system. Funding is provided by taxation; the patient only pays a consultation fee. Genetic analyses on a broad range of cytogenetic and molecular disorders are performed at the 6 university-affiliated hospitals and in 1 county hospital. About 6% of all newborns have been cytogenetically screened during pregnancy, and about 90% of the analyses are performed after amniocentesis. The main indication is chromosome analysis because of advanced maternal age. PMID:9101184

  11. Recent advances in maternal serum screening for Down syndrome.

    Science.gov (United States)

    Messerlian, Geralyn M; Canick, Jacob A

    2002-12-01

    For the past 15 years, addition of serum markers to screening for Down syndrome has enhanced the ability to identify affected pregnancies. During the 1990s, incremental improvements in screening have been tested and implemented, first with the addition of a fourth biochemical marker, inhibin A, to second trimester screening protocols, and second with the development of combined first trimester serum and ultrasound screening. With the new century, we are on the verge of a major breakthrough in the performance of prenatal screening for Down syndrome, with the opportunity to spare almost all pregnant women the risk of amniocentesis and CVS, yet attain levels of detection approaching 90%. PMID:12593353

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

    Directory of Open Access Journals (Sweden)

    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.

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

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... 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...... invasive procedures calls for quality assurance and monitoring of operators' performance....

  14. A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

    OpenAIRE

    Debrand, Emmanuel; Lykoudi, Alexandra; Bradshaw, Elizabeth; Allen, Stephanie K.

    2015-01-01

    Introduction Non-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother’s bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5–1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in th...

  15. Understanding the Limitations of Circulating Cell Free Fetal DNA: An Example of Two Unique Cases.

    Science.gov (United States)

    Clark-Ganheart, Cecily A; Iqbal, Sara N; Brown, Donna L; Black, Susan; Fries, Melissa H

    2014-05-01

    Circulating cell free fetal DNA (cffDNA) is an effective screening modality for fetal aneuploidy. We report two cases of false positive results. The first case involves a female, with self-reported Down syndrome. CffDNA returned positive for trisomy 18 leading to a maternal diagnosis of mosaicism chromosome 18 with normal fetal karyotype. The second case involves a patient with an anomalous fetal ultrasound and cffDNA positive for trisomy 13. Amniocentesis demonstrated a chromosome 8p duplication/deletion. False positive cffDNA may arise in clinical scenarios where diagnostic testing is clearly indicated. Practitioners should recognize the limitations of cffDNA. PMID:25298847

  16. Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.

    OpenAIRE

    MacFaul, R; Turner, T.; Mason, M. K.

    1981-01-01

    Two babies with Down's/Turner's mosaic karyotype are reported. In each, because of advanced maternal age, chromosomal analysis had been carried out on the fluid obtained by amniocentesis in early pregnancy. Only the 46,X+ 21 cell line grew in the specimens and the extra 21 chromosome was wrongly identified as a Y chromosome, so that the fetus was thought to have a normal male karyotype, 46,XY. At birth both babies were phenotypically female with features predominantly of Down's syndrome and t...

  17. Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

    OpenAIRE

    Qumsiyeh, M B; Tomasi, A; Taslimi, M

    1995-01-01

    A patient was referred for amniocentesis because of advanced maternal age and polyhydramnios. The fetal karyotype was a mosaic 46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo. The deletion appeared to encompass the whole short arm as evidenced by G banding and in situ hybridisation. However, telomere sequences were found on both ends of the deleted chromosome as well as the isochromosome. The normal 18 and the isochromosome showed more alphoid sequences than the del(18). Subsequent passages of ...

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

    Directory of Open Access Journals (Sweden)

    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.

  19. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    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.

  20. 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

  1. [Introduction of noninvasive prenatal testing for fetal trisomies: preliminary results and consequences on invasive samplings].

    Science.gov (United States)

    Van Wymersch, D; Gilson, G

    2015-01-01

    Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect trisomy 21, 18 and 13 in a foetus with a very high level of accuracy. After one year of NIPT utilisation with 683 samples, we analyzed retrospectively the performance of the test for 2014 : 3 positive samples (2 trisomies 21 and 1 trisomy 18) were correctly detected (100% sensitivity) and no foetal aneuploidy was missed for the pregnancies having already resulted in delivery by decembre 2014 (280 true negatif, 100% specificity). However, the additionnally available analysis of the sex chromosomes resulted in 2 erronous results: 1 uncorrect sex determination (1 male resulting in a female phenotype at birth) and 1 result suggesting a Turner syndrome was not confirmed by amniocentesis. The failure rate leading to a resampling was at 1.46% (10/683). The test used was the NIFTY of the BGI laboratory in Hong-Kong. By comparison to the year 2013, the utilisation of NIPT lead to a significant diminution of invasive samples performed by amniocentesis or choriocentesis 144 vs. 239 (- 63%). We confirmed that NIPT is a high-performance tool for the screening of the main foetal aneuploidies and report that during its first year of utilisation, 63% of invasive samples collected could be avoided. The test is expensive, not reimboursed by Luxembourg social security and therefore prohibitive for a number of women and their families. PMID:26946853

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

    Directory of Open Access Journals (Sweden)

    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

  3. 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.

    Directory of Open Access Journals (Sweden)

    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

  4. Abnormal maternal serum alpha fetoprotein and pregnancy outcome.

    Science.gov (United States)

    Zarzour, S J; Gabert, H A; Diket, A L; St Amant, M; Miller, J M

    1998-01-01

    The objective was to assess the occurrence of miscarriages, low birth weight, and karyotype abnormalities found with low and elevated maternal serum alpha-fetoprotein (MSAFP) among women who had genetic amniocentesis performed. A retrospective study of 2,159 women who had MSAFP analysis prior to amniocentesis was conducted. Pregnancy outcomes were obtained from record review and physicians follow-up. Limits of MSAFP used in analysis were MOM) (lower levels) and >2.0 MOM (upper levels). Autosomal trisomy was found in 1.6% with low, 0.9% normal, and 0.6% with elevated MSAFP values. Sex chromosome abnormalities were present only in patients with normal MSAFP, [45X (n = 6), 47XXY (n = 2), 69XXX]. Of five open neural tube defects, four had elevated MSAFP and one had a normal value. Omphalocele was identified in four patients, two with normal and two with elevated MSAFP. Gastroschisis was found in one low and one elevated MSAFP. Amniotic fluid alpha-fetoprotein (AFAFP) values did not correlate with MSAFP values. Patients with low MSAFP levels had a greater prevalence of abnormal karyotype (19 of 249, prevalence = 0.076) than patients with an elevated MSAFP level (2 or 166, prevalence = 0.012 OR (odds ratio) = 0.20 (P value = 0.024) when unadjusted for maternal age, and OR = 0.09 (P value = 0.001) when adjusted for maternal age. Spontaneous abortion occurred more often in patients with elevated (4 of 166, or 4%) than normal or low (20 of 1948, or 1%) values of MSAFP (odds ratio 4.32, P = 0.020 when adjusted for maternal age). Birth weight below 2,500 g was present less frequently with low or normal MSAFP (136 of 1,760, or 7.7%) than in elevated MSAFP (21 of 144 or 14.6%) (odds ratio 2.04, P = 0.005, unadjusted; and odds ratio = 2.32, P = 0.003, adjusted for maternal age). Female fetuses were present more often with low MSAFP (136 of 249, or 55%) than elevated levels 43% (71 of 164, or 43%; P = 0.024). We conclude that patients undergoing genetic amniocentesis with MSAFP

  5. Bruk av amniocenteser og chorionbiopsier i Norge

    Directory of Open Access Journals (Sweden)

    Guttorm Haugen

    2009-10-01

    Full Text Available  SAMMENDRAGInvasiv prenatal diagnostikk i form av amniocentese (fostervannsprøve og chorionbiopsi (morkakeprøveutføres i ca. 2% av alle svangerskap i Norge per år. Dette er betydelig færre undersøkelser ennhva som utføres i de andre nordiske land. De fleste får utført amniocentese pga. høy maternell alder(aldersindikasjon som her i landet er ≥ 38 år ved fødselstermin. Chorionbiopsi er forbeholdt kvinnermed kjente arvelige lidelser i familien, dvs. kvinner med høy risiko for å få et affisert foster. De undersøkelsersom foreligger over svangerskapsutfall samt forekomst av komplikasjoner etter amniocenteseog chorionbiopsi er hovedsakelig utført i andre land på kvinner med generelt lavere risiko ( ≥ 35 år ennfor dem som får utført invasiv prenatal diagnostikk i Norge. Pga. vår restriktive praksis kan ikke disseresultatene uten videre overføres til Norge. Vi mangler eksakte data over svangerskapsutfall og evt.komplikasjoner etter disse undersøkelsene i en norsk populasjon.Haugen G, van der Hagen CB. The use of amniocentesis and chorionic villus sampling in Norway.Nor J Epidemiol ENGLISH SUMMARYAmniocentesis or chorionic villus sampling are performed in about 2% of all pregnancies in Norwaywhich is far less than in the other Nordic countries. Most of the amniocenteses are performed due toadvanced maternal age. In Norway this is defined as maternal age ≥ 38 years at term. Couples withknown chromosomal aberrations or genetic diseases in their families, i.e. women at a high risk of havingan affected fetus, are offered chorionic villus sampling. Earlier studies on complications and pregnancyoutcome following amniocentesis or chorionic villus sampling have been performed in other countriesmainly on women at a lower risk ( ≥ 35 years than for the women having such tests in Norway. We donot have data on pregnancy outcome and possible complications following amniocentesis and chorionicvillus sampling in a Norwegian

  6. 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.

  7. Vox populi bioethici: a readers' poll on four hard cases.

    Science.gov (United States)

    Levine, Carol

    1986-12-01

    Lewis summarizes the findings of a St. Petersburg Times poll asking readers to comment on four hypothetical ethical dilemmas in medicine. Opinions also were solicited from a panel of three physicians and a philosopher. The cases involved a choice among three patients for a liver transplant; a request by the wife of a comatose patient that her husband's life support systems be removed; a decision about whether to perform life-saving surgery over a patient's objections; and a decision about whether an older pregnant woman should undergo amniocentesis and abort her fetus if it were diagnosed as having Down's syndrome. Over 900 readers responded to the poll, the results of which were published in the 6 Oct 1986 issue of the St. Petersburg Times together with the responses of the panel members. PMID:11643946

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  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. 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.

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

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    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.

  15. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

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    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.

  16. 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.

  17. 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.

  18. 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.

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

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    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.

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

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    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.

  1. 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. PMID:25039760

  2. [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. PMID:26530119

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

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    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.

  4. Leiomyoma in pregnancy: Echosonographic mimicry

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    Nikolić Rajko

    2004-01-01

    Full Text Available Leiomyoma is the most common tumor viewed by echosonography of the uterus. This report presents pregnancy with calcified leiomyoma of the uterus which simulated the head of the fetus, what was verified by echosonography. Woman, nullipara, 41 years old, in week 21 of pregnancy, was referred for echosonographic evaluation. Biochemical screening for Down syndrome, performed in week 17 of pregnancy, was positive. Fetal karyotype, obtained by amniocentesis, was normal (46 XX. In the case presented herein, diameter of leiomyoma was 48 mm, being equal to the diameter of the fetal head in 21st week of pregnancy. Due to calcifications on the surface of leiomyoma which were viewed on echosonography in the form of hyperechogenic border, this tumor looked like a head of the fetus. This echosonographic finding of two fetal heads in a single pregnancy was remarkable even for a gynecologist experienced in echosonographic examination.

  5. Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter.

    Science.gov (United States)

    Liu, X Y; Jiang, Y T; Wang, R X; Luo, L L; Liu, Y H; Liu, R Z

    2015-01-01

    We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregnancy, an amniocentesis, which was done at 19 weeks, revealed that the fetal karyotype was 46,XX, t(17; 22) (q21; q11). Fluorescence in situ hybridization testing of amniotic fluid gave a normal result for chromosome 21. The child was a phenotypically normal female baby. PMID:26345964

  6. Twin–Twin Transfusion Syndrome Presenting as Polyhydramnios in Both Fetuses Secondary to Spontaneous Microseptostomy

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    David N. Hackney

    2013-10-01

    Full Text Available The presence of polyhydramnios and oligohydramnios is pathognomonic for twin–twin transfusion syndrome (TTTS. However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presented initially with dual polyhydramnios. Subsequent ultrasound and clinical and pathologic findings were otherwise consistent with TTTS. Unlike prior reported cases, a septostomy of the dividing membrane was never identified with ultrasound or even on post delivery placental examination. However, microseptostomies were demonstrated due to the transfer of indigo carmine between the amniotic sacs at amniocentesis. Thus in the setting of TTTS concern, the diagnosis should be considered with dual polyhydramnios even if a septostomy cannot be identified.

  7. 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.

  8. Autologous transplantation of amniotic fluid-derived mesenchymal stem cells into sheep fetuses.

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    Shaw, S W Steven; Bollini, Sveva; Nader, Khalil Abi; Gastaldello, Annalisa; Gastadello, Annalisa; Mehta, Vedanta; Filppi, Elisa; Cananzi, Mara; Gaspar, H Bobby; Qasim, Waseem; De Coppi, Paolo; David, Anna L

    2011-01-01

    Long-term engraftment and phenotype correction has been difficult to achieve in humans after in utero stem cell transplantation mainly because of allogeneic rejection. Autologous cells could be obtained during gestation from the amniotic fluid with minimal risk for the fetus and the mother. Using a sheep model, we explored the possibility of using amniotic fluid mesenchymal stem cells (AFMSCs) for autologous in utero stem cell/gene therapy. We collected amniotic fluid (AF) under ultrasound-guided amniocentesis in early gestation pregnant sheep (n = 9, 58 days of gestation, term = 145 days). AFMSCs were isolated and expanded in all sampled fetal sheep. Those cells were transduced using an HIV vector encoding enhanced green fluorescent protein (GFP) with 63.2% (range 38.3-96.2%) transduction efficiency rate. After expansion, transduced AFMSCs were injected into the peritoneal cavity of each donor fetal sheep at 76 days under ultrasound guidance. One ewe miscarried twin fetuses after amniocentesis. Intraperitoneal injection was successful in the remaining 7 fetal sheep giving a 78% survival for the full procedure. Tissues were sampled at postmortem examination 2 weeks later. PCR analysis detected GFP-positive cells in fetal tissues including liver, heart, placenta, membrane, umbilical cord, adrenal gland, and muscle. GFP protein was detected in these tissues by Western blotting and further confirmed by cytofluorimetric and immunofluorescence analyses. This is the first demonstration of autologous stem cell transplantation in the fetus using AFMSCs. Autologous cells derived from AF showed widespread organ migration and could offer an alternative way to ameliorate prenatal congenital disease.

  9. 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.

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

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David-Gradus; Haidar, Hazar; Rousseau, François

    2014-01-01

    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 option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test's advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care. PMID:25053891

  11. Lamellar body count in amniotic fluid for assessing fetal lung maturity

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    Višnjevac Jovana

    2010-01-01

    Full Text Available Introduction. Respiratory distress syndrome (RDS of the newborn infant caused by immaturity of fetal lung is a very serious clinical problem. Surfactant is stored in the form of lamellar bodies. They are secreted into alveolar space and passed into amniotic fluid where they can be found. The similarity of lamellar body size to platelet size permits the use of a standard automated hematologic cell counter to estimate the number of lamellar bodies in amniotic fluid. Material and Methods. We conducted a prospective clinical study from 2005 - 2006 on amniotic fluid samples. Amniotic fluid samples were collected near delivery by transvaginal amniotomy, amniotomy during Cesarean section and 72 hours before delivery by amniocentesis. A hematology analyzer (Nikon - Kohden® was used to determine the lamellar body counts. After birth of newborns we compared their complete clinical examination results particularly emphasizing the prediction of the method of RDS by lamellar body count. Maximally specific lamellar body cutoffs for maturity and immaturity were determined using ROC curves. Results and Discussion. Of 232 amniotic fluid samples which were tested, 112 samples were collected by transvaginal amniotomy, 88 were taken during Cesarean delivery and 32 samples were collected by amniocentesis. The incidence of RDS was 14.6%. ROC curves were used to identify cut points for the test. We found that LBC is a good screening test for predicting fetal lung maturity with the area under the curve of 0.751. LBC cutoff of 42x10³/μl, with sensitivity of 82.4% and specificity of 64.6%, proved best for predicting fetal lung maturity. Conclusion. LBC is a good screening test for predicting fetal lung maturity. The advantages of LBC are speed, objectivity, low price, low sample volume required and universal availability.

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

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    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

  13. 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

  14. Clinical Application Value of Down's Syndrome Screening in the Prenatal Diagnosis:%15230例孕中期唐氏筛查产前诊断的临床应用

    Institute of Scientific and Technical Information of China (English)

    杨灿锋; 王峻峰; 朱云霞; 陈道桢

    2011-01-01

    目的:探讨孕中期唐氏筛查对检出胎儿染色体异常的预测价值.方法:2008年1月至2009年10月,采用时间荧光免疫分辨法对我院15230例孕中期(15~20+6周)妇女进行血清标志物甲胎蛋白(AFP)、游离雌三醇(uE3)、绒毛膜促性腺激素(β-HCG)3项指标进行检测,对于筛查结果为高风险的孕妇于孕20~24周行羊膜腔穿刺进行胎儿羊水细胞染色体核型分析,并对唐氏筛查情况进行效果评价.结果:984例孕妇唐氏筛查为高风险,高风险率为6.46%,其中唐氏综合征阳性孕妇736例,18-三体阳性78例,神经管缺陷阳性169例.有773例高风险孕妇接受羊水穿刺,发现胎儿染色体异常29例,异常检出率为3.75%,其中唐氏综合征11例,18-三体1例,69,XXX 1例.唐氏筛查的敏感性和特异性分别为92.86%和95.25%.结论:孕中期唐氏筛查是预测异常胎儿和不良妊娠结局的有效手段之一,羊水细胞核型分析在产前诊断中具有重要的实用价值.%Objective: To explore the prediction value of Down's syndrome screening in the second trimester of pregnancy in the detection of fetal chromosomal abnormality.Methods: Serum alpha-fetoprotein (AFP) 、unconjugated estriol (u-E3) and β-HCG level in 15230 pregnant women (15 ~ 20+6 gestational weeks)from Jan 2008 to Oct 2009 in our hospital were detected by time-distinguished fluorescence immunoassay.Amniocentesis for fetal karyotype was done between 20 to 24 gestational weeks in gravidas with high risk by screening.The effect of Down's syndrome screening was evaluated.Results: 984 cases were detected at high risk, and the positive rate was 6.46%.In which, 736 cases were positive in Down's syndrome, 78 cases were positive in 18-trisome, and 169 cases were positive in neural tube defects.Amniocentesis was done in 773 cases at high risk, in which 29 cases with fetal abnormal chromosome, the detectable rate was 3.75%.Among them, 11 cases were Down's syndrome, 1 cases was 18

  15. 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

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

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    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

  17. 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.

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

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    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

  19. 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

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    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

  20. 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.

  1. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  3. 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.

  4. 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. PMID:26115489

  5. 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

  6. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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.

  9. 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.

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. 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].

  14. 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.

  15. 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.

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

    Institute of Scientific and Technical Information of China (English)

    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.

  17. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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. PMID:20890084

  20. 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.

  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. Use of Quantitative Fluorescent Polymerase Chain Reaction (QF PCR) in Prenatal Diagnostic of Fetal Aneuploidies in a 17 Month Period in Parallel with Karyotyping

    Science.gov (United States)

    Konjhodzic, Rijad; Dervovic, Edina; Kurtovic-Basic, Ilvana; Stomornjak-Vukadin, Meliha; Muhic, Adis; Baljevic, Sumeja; Pirnat-Gegic, Aida; Basic, Ejub; Bilalovic, Nurija

    2014-01-01

    Introduction: QF PCR has recently entered diagnostic practice as a possible way to bypass culturing of the fetal cells, as well as to provide a rapid response following amniocentesis. Material and methods: The effective value of the QF PCR remains a much debated issue, positions ranging from that it makes classic kayotyping obsolete except in special occasions, to that it is no more than a guideline for a mandatory karyotype. Current practices of the gynecology specialists generates samples in such fashion that kariotyping of samples quickly falls behind to the point of obsoleteness, because, by the time a karyotype has been finished, a window of opportunity for termination of pregnancy has closed. Results: QF PCR provides a rapid response alternative, but it is necessary to establish its reproducibility, as well as an algorithm of its use along classic kariotyping. This study contains samples processed in a period from August 1, 2012 to December 31 2013 in both QF PCR and classic karyotype. Object of this study was compare results obtained by two methods, and establish confidence interval of the QF PCR testing. Overall, 661 amniotic fluid samples were processed and typed with QF PCR, out of which 221 were done in parallel with karyiotyping, as an confirmation of results. PMID:24825930

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

    Science.gov (United States)

    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. PMID:27606664

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

    Directory of Open Access Journals (Sweden)

    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.

  5. 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.

  6. [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.

  7. 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.

  8. 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.).

  9. 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

  10. 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.

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

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    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.

  12. 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.

  13. Ocular manifestation of congenital toxoplasmosis, clinical implication - case report.

    Science.gov (United States)

    Modrzejewska, Monika; Patalan, Jacek; Kulik, Urszula; Czeszyńska, Maria Beata

    2016-01-01

    The aim of this case report was to present extremely severe, ophthalmic complications in form of rare, congenital toxoplasmatic bilateral defect of eye-balls concomitant with advanced uveitis, microphthalmia and eye-multistructural developmental abnormalities leading to irreversible visual disability. The ocular diagnosis was confirmed in Ret-Cam II and ultrasonography and it was accompanied with congenital multiorgan lesions including hepato-splenomegaly, thrombocytopenia, leukomalacia, hydrocephalus and ventriculomegaly with neurological symptoms. Serology, PCR of cerebro-spinal fluid and cord blood confirmed the presence of congenital Toxoplasma gondii infection in the infant. The authors took the effort of insightful analysis for the causes of applied treatment failure in mother during pregnancy, analyzing the inefficacy of Spiromycin therapy in pregnant woman and evaluating false-negative result of amniocentesis for Toxoplasma gondii presence. Among many issues concerning anti-toxoplasmatic treatment in mother and infant presented in this article, the need for multiple repetition of toxoplasmatic tests should be underlined including amniotic fluid PCR and ultrasonography which can add much important data for correct diagnosis. The authors indicate that the lack of benefits from conservative therapy in case of suspected Toxopalsma gondii suggestion lead to dramatic multiorgan complications, especially ophthalmo-neurologic, leading to irreversible visual disability. PMID:27306134

  14. Preterm labor and neonatal sepsis caused by intrauterine Helicobacter cinaedi infection.

    Science.gov (United States)

    Maki, Yohei; Furukawa, Seishi; Kodama, Yuki; Sumiyoshi, Kaeko; Kino, Emi; Sameshima, Hiroshi

    2016-06-01

    Helicobacter cinaedi is a rare pathogen but known to cause bacteremia, cellulitis and enterocolitis. Recently, cases of involving various organs are increasingly reported such as endocarditis, meningitis, and kidney cyst infection. We report a case of intrauterine H. cinaedi infection leading preterm birth and neonatal sepsis. A 29-year-old pregnant women who was no underlying disease hospitalized due to threatened preterm labor at 22 weeks of gestation. Clinical findings showed uterine tenderness, fever, leukocytosis and elevated C-reactive protein. H. cinaedi was isolated from amniotic fluid obtained by transabdominal amniocentesis. We diagnosed as intrauterine H. cinaedi infection and administered intravenous ampicillin followed by oxytocin to terminate pregnancy. A live 446 g male infant was delivered. The patient was no signs of infection throughout postpartum course and discharged on post-delivery day 5. The neonate was admitted in neonatal intensive care unit and administered ampicillin and amikacin. H. cinaedi was isolated from umbilical cord blood culture. He has no signs of infection on day 5 but died from uncontrollable hyperglycemia and ketoacidosis on 15 days of age. H. cinaedi can cause intrauterine infection during pregnancy and lead preterm labor and neonatal sepsis. PMID:26806147

  15. 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.

  16. 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.

  17. Prevention is the Best Therapy: The Geneticist's Approach.

    Science.gov (United States)

    Altarescu, Gheona

    2016-06-01

    Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders. Despite the advances in prenatal diagnosis, couples found to have a fetus affected with a genetic disorder may need to face the dilemma of pregnancy termination. Preimplantation genetic diagnosis (PGD) is an alternative to preempt risk of having a child affected with a life-altering genetic disorder. This technique allows biopsy and genetic diagnosis of embryos obtained from in vitro fertilization by analysis of the genetic material from one or a few embryonic cells. Only unaffected embryos are returned to the mother to establish the pregnancy. We present our experience using PGD for four Lysosomal storage disorders: Tay Sachs, Gaucher type 1, Hunter and Fabry disease with some of the couples being carriers of more than one genetic disorder. PGD is applicable to most disorders for which the gene and the familial mutation are known and should be presented to couples as an alternative to invasive prenatal testing. PMID:27491212

  18. Using fetal cells for prenatal diagnosis: History and recent progress.

    Science.gov (United States)

    Beaudet, Arthur L

    2016-06-01

    The potential to use fetal cells in the mother's circulation during the first or second trimester for prenatal diagnosis was described in 1968, but it has not been possible do develop a routine clinical prenatal test despite extensive commercial and academic research efforts. Early attention focused on the detection of aneuploidy, but more recent technology opens the possibility of high resolution detection of copy number abnormalities and even whole genome or exome sequencing to detect both inherited and de novo mutations. In the interim, cell-free noninvasive prenatal testing NIPT has allowed improved detection of aneuploidy, but this has led to a sharp reduction in the number of amniocentesis and chorionic villus sampling (CVS) procedures, which inevitably implies reduced detection of serious de novo deletion abnormalities. Attention has focused of both fetal nucleated red blood cells (fnRBCs) and trophoblasts. Recent progress presented at meetings, but not yet published, suggests that it will soon be possible to perform genome-wide relatively high resolution detection of deletions and duplications by recovering fetal trophoblasts during the first trimester and analyzing them by whole gene genome amplification followed by copy number analysis using arrays or next generation sequencing. © 2016 Wiley Periodicals, Inc. PMID:27133782

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

    International Nuclear Information System (INIS)

    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)

  20. 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.

  1. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. PMID:22178801

  2. 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. PMID:12156379

  3. Human papillomavirus in amniotic fluid

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    Swan David C

    2006-09-01

    Full Text Available Abstract Background There is evidence to suggest that human papillomavirus (HPV can cross the placenta resulting in in-utero transmission. The goal of this study was to determine if HPV can be detected in amniotic fluid from women with intact amniotic membranes. Methods Residual amniotic fluid and cultured cell pellets from amniocentesis performed for prenatal diagnosis were used. PGMY09/11 L1 consensus primers and GP5+/GP6+ primers were used in a nested polymerase chain reaction assay for HPV. Results There were 146 paired samples from 142 women representing 139 singleton pregnancies, 2 twin pregnancies, and 1 triplet pregnancy. The women were 78% Caucasian, 5% African American, 14% Asian, and 2% Hispanic. The average age was 35.2 years with a range of 23–55 years. All samples were β-globin positive. HPV was not detected in any of the paired samples. Conclusion Given the age range, race, and ethnicity of the study population, one would anticipate some evidence of HPV if it could easily cross the placenta, but there was none.

  4. 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.

  5. Hereditary pancreatitis associated with a balanced translocation (5q;11p)

    Energy Technology Data Exchange (ETDEWEB)

    Dasouki, J.J.; Summar, M.L.; Mixon, C. [Vanderbilt Univ. Medical Center and Cytogenetics Lab Inc., Nashville, TN (United States)

    1994-09-01

    Dominantly inherited pancreatitis was first described by Comfort and Steinberg in 1952. It is estimated to account for <1% of all childhood pancreatitis cases. Patients as young as 17 months of age were reported. Presentation varies from acute abdominal pain mimicking familial Mediterranean fever to more chronic steatorrhea causing malabsorption. Urinary excretion of cystine in both affected and unaffected family members is an unexplained feature. Our 37 year old, G{sub 1}P{sub 0{minus}1} proband is known to have familial pancreatitis which complicated her current pregnancy. Family history was also positive in her mother and a sister who has a 12 year old daughter with recurrent abdominal pain. The proband sought genetic counselling because her amniocentesis showed a male fetus with an apparently balanced reciprocal translocation: t(5;11)(q13;p15). A detailed fetal ultrasound examination failed to show any abnormality. On chromosomal analysis, the proband was found to have a similar translocation. Her plasma aminogram was normal, however the spot and 24 hour urine aminograms demonstrated generalized aminoaciduria. This is the first report of hereditary pancreatitis with a segregating balanced autosomal translocation which may be etiologically important. In addition, unlike what was described previously, the aminoaciduria was generalized and nonspecific. Molecular analysis of the genes located in the breakpoint region may prove to be helpful in identifying the responsible gene and the delineation of the pathogenesis of this developmental disorder.

  6. 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.

  7. 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.

  8. 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

    Institute of Scientific and Technical Information of China (English)

    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.

  9. 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.

  10. 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.

  11. 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

  12. [Confirmation of a prenatal diagnosis of trisomy 13 with comparative genomic hybridization (CGH)].

    Science.gov (United States)

    Marton, T; Thein, A; Bán, Z; Soothill, P; Oroszné, N J; Papp, Z

    2001-05-13

    Trisomy 13 was diagnosed with genetic amniocentesis in a fetus of a 50 years old patient. Fetopathologic examination has shown cyclopy, proboscis and semilobar holoprosencephaly of the fetus, which is consistent with Patau syndrome. DNA was extracted from frozen liver tissue. Result of comparative genomic hybridization (CGH) was consistent with trisomy 13. They processed the DNA according Kallioniemi's method with modifications. CGH was developed for cancer genetics in mid 90s and now it is widely used in prenatal diagnosis too. CGH allows global analysis to detect unbalanced chromosome gains and losses in the whole genome in a single experiment without the need for cell culture. Significant results can be expected in those cases where conventional cytogenetics is not able to provide an answer either because postmortem tissue is not appropriate for cytogenetics or because the chromosomal change is sub-microscopical. CGH is a fluorescent in situ hybridization on a healthy target metaphase, with equal amount of competitive hybridization of green labelled digested test DNA and red labelled digested control DNA. Red to green ratio is assessed with the help of an image analyser. Green dominance represents chromosome gain, while red shift chromosome loss. In the paper they present the fetopathologic report of a trisomy 13 fetus and illustrate the method being the first Hungarian obstetric case diagnosed by CGH. PMID:11419300

  13. 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.

  14. Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus

    Science.gov (United States)

    Ke, Wei-Lin; Zhao, Wei-Hua; Wang, Xin-Yu

    2015-01-01

    Objective: The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. Methods: A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and the pregnant at low risk were followed up to make sure the newborn outcome. Results: The prenatal noninvasive aneuploidy test was positive for trisomy 21 in 17 cases, for trisomy 18 in 6 cases and for trisomy 13 in 1 case, which of all were confirmed by karyotype analysis. Newborns of low risk gestational woman detected by prenatal noninvasive aneuploidy for trisomy 21, 18, 13 were followed up and no one was found with trisomy. Conclusions: The prenatal noninvasive aneuploidy test is highly accurate for detection of trisomy 21, 18 and 13, which can be considered as a practical alternative for traditional invasive diagnostic procedures. PMID:26309618

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

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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.

  20. Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

    Science.gov (United States)

    Toru, Havva Serap; Nur, Banu Guzel; Sanhal, Cem Yasar; Mihci, Ercan; Mendilcioğlu, İnanç; Yilmaz, Elanur; Yilmaz, Gulden Tasova; Ozbudak, Irem Hicran; Karaali, Kamil; Alper, Ozgul M; Karaveli, Fatma Şeyda

    2015-01-01

    Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management. PMID:26376227

  1. Identification by FISH of 21q22 duplication in patient with Down syndrome and apparent 46,XX karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Yu, Chih-yu; Anyane-Yeoba, K.; Warburton, D. [Columbia Univ., New York, NY (United States)

    1994-09-01

    Karyotype analysis of a 3-day-old child referred for clinical evaluation of Down syndrome was originally reported as normal 46,XX. The child had many features of Down syndrome, including a leukemoid reaction at birth. Because of the strongly suggestive clinical features, and a slightly unusual appearance of the short arm of one chromosome 21, FISH analysis was carried out using a probe specific for the 21q22.3 region (ONCOR). Signal was seen as expected in the distal long arm of both chromosomes 21, but also in the short arm with the morphological variant. DNA analysis with a number of long arm probes confirmed the presence of duplication of a large portion of band 21q22. Parental karyotypes were normal. The mother of this case had declined amniocentesis. However, it is very likely that routine prenatal chromosome analysis would not have detected the duplication, since the short arm was not strikingly different from many normal variants. Only screening with a 21q22 FISH probe (interphase or metaphase) would have predicted the Down syndrome in this child.

  2. 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. PMID:24998339

  3. 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

    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。%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.

  4. Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14.

    Directory of Open Access Journals (Sweden)

    R Posmyk

    2010-01-01

    Full Text Available The main aim of this work is to present unusual case with full trisomy 18 and additional robertsonian translocation- Rob (13;14 detected through abnormalities found in prenatal ultrasound examination. A 26 years-old pregnant women with no family history of any reproductive failure underwent level II ultrasound screening in 19 weeks of gestation. Polyhydramnios, intrauterine growth retardation, hydrocephalus, enlarged lateral ventricles, club foot and cardiac defect were found. Amniocentesis was indicated considering the high likelihood of a chromosomal aberration. Abnormal karyotype was detected 46, XY, der(13;14(q10;q10, +18. Karyotypes of parents were normal, what confirmed de novo origin of this aberration. Pregnancy was terminated. In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: microcephaly, prominent occiput, very low set and posteriorly rotated ears, hypertelorism, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and club foot. In conclusion it is worth to say that our described fetus demonstrated rather typical for trisomy 18 ultrasonographic features. Balanced Rob (13;14 gives no phenotypic expression. Possible interchromosomal effect in complex chromosomal aberration formation such as Rob (13;14 with trisomy 18 was discussed.

  5. 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. PMID:26547910

  6. 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).

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. Value of second-time invasive prenatal diagnosis in the current circumstances%再次介入性产前诊断在当前形势下的临床应用价值

    Institute of Scientific and Technical Information of China (English)

    吴怡; 王彦林; 程蔚蔚; 于静波; 刘春敏

    2014-01-01

    Objective To assess the safety of repeated invasive prenatal diagnosis primarily due to failed culture of amniotic cells.Methods Between January 2000 and October 2012,167 cases required repeated invasive prenatal diagnosis among a total of 5304 amniocentesis cases.Clinical outcome and karyotypes were analyzed to calculate the rate of fetal loss.Results For the 167 re-sampled cases,the indications have included failed amniocyte culture (121 cases),chromosome mosaicisms (23 cases),failed amniocentesis (21 cases),and request for confirmation (2 cases).No fetal loss has occurred.All samples were cultured successfully.Fourteen cases (8.38%) have been found with an abnormal karyotype.Four mosaic trisomic cases (2 mosaic trisomy 16,1 mosaic trisomy 20,and 1 mosaic trisomy 8) were verified to be normal.Conclusion Repeated invasive prenatal diagnosis does not increase the rate of fetal loss.It can be recommended to cases with failed amniocyte culture.Caution should be undertaken when counseling prenatally detected mosaicism trisomies.%目的 探讨由于不同原因进行再次介入性产前诊断的安全性以及羊水细胞嵌合的分析及处理对策.方法 回顾2000年1月至2012年10月5304份羊膜腔穿刺中167份进行再次介入性穿刺的孕妇,分析再次穿刺指征、不同穿刺方法、胎儿染色体核型等因素对妊娠结局的影响.结果 167份再次穿刺指征依次为:羊水细胞培养失败121份,羊水细胞核型嵌合23例、羊水穿刺失败21份,以及孕妇要求复查胎儿核型者2份.再次穿刺病例未出现流产.细胞培养成功率为100%.再次穿刺核型异常发生率为8.38%;嵌合者中2例16三体嵌合、1例20三体嵌合及1例8号三体嵌合,脐静脉穿刺核型正常.结论 再次介入性产前诊断并不增加孕妇流产的几率.对于羊水细胞嵌合者,脐静脉穿刺是较好的补救措施.某些常染色体三体嵌合型(如8、16及20号等),脐静脉穿刺胎儿核型可能正常,

  12. 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

    Institute of Scientific and Technical Information of China (English)

    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

  13. 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

  14. 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

  15. 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

  16. 基因测序结合 STR 连锁分析在假肥大型肌营养不良症产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    李少英; 何文智; 刘海波; 冼嘉嘉; 马晓燕; 王晓蔓; 黎青

    2015-01-01

    目的 假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy (DMD/BMD)是一种X-连锁隐性致死性遗传病 ,尚无特异性治疗方法 ,建立一套适合于 DMD基因点突变产前诊断及早期产前诊断的方法 ,为携带者产前诊断提供有效的基因诊断途径 ,以避免患胎的出生.方法 27例 D M D基因点突变携带者妊娠期取绒毛组织或羊水进行风险胎儿的DMD基因测序、DNA-STR分型和性别基因检测.结果 27个风险胎儿中 ,检出DMD患胎6例 ,其中无义突变3例 ,移码突变2例 ,剪接位点突变1例 ;检出携带者胎儿8例 ,其中移码突变4例 ,无义突变3例 ,剪接位点突变1例 ;13例为正常胎儿.27例中11例是通过绒毛膜穿刺活检进行 ,其余为羊膜腔穿刺羊水检查.结论 基因测序结合S T R连锁分析用于用于 DM D点突变的产前基因诊断是目前一种准确和可行的方法.可成功地避免患病胎儿的出生 ,并能明确区分 DMD基因纯合子和杂合子突变 ,避免正常胎儿被错误淘汰.%Objective Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessivedisease caused by mutations in the dystrophy gene .There is no specific and efficient treatment for thisserious and disabling disease .We performed prenatal diagnosis for the carriers with DMD gene point mutationsto early detection and prevent fatal birth defects in birth .Method Using DNA sequencing andlinkage analysis of short tandem repeats (STR) methods ,27 cases which carrying DMD gene point mutationswere performed prenatal diagnosis through amniocentesis or chorionic villus sampling . ResultsWithin 27 cases of DMD risk fetus ,6 cases were found to be sufferer ;in which 3 cases were Nonsense mutationhomozygote,2 cases were Shift code mutations ,1case was Splice site mutation .8 cases were carrier ,in which 4 cases were Shift code mutation heterozygote ,3 cases were Nonsense mutation heterozygote ,1case was Splice site mutation heterozygote .13

  17. 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.

  18. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Justyna Gil

    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.

  19. The Application of Clinical Genetics

    Directory of Open Access Journals (Sweden)

    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.

  20. Significant performance variation among PCR systems in diagnosing congenital toxoplasmosis in São Paulo, Brazil: analysis of 467 amniotic fluid samples

    Directory of Open Access Journals (Sweden)

    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.

  1. [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.

  2. 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.

  3. 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.

  4. Maternal and neonatal risk factors for childhood type 1 diabetes: a matched case-control study

    Directory of Open Access Journals (Sweden)

    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.

  5. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

    Directory of Open Access Journals (Sweden)

    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.

  6. 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

  7. Maternal serologic screening to prevent congenital toxoplasmosis: a decision-analytic economic model.

    Directory of Open Access Journals (Sweden)

    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.

  8. Characteristics of human amniotic fluid mesenchymal stem cells and their tropism to human ovarian cancer.

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. 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.

  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. 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.

  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. 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.

  15. 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.

  16. 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.

  17. Aborting a malformed fetus: a debatable issue in saudi arabia.

    Science.gov (United States)

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  18. 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.

  19. [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

    2013-01-01

    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. PMID:24008527

  20. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    Science.gov (United States)

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. PMID:26391432

  1. 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.

  2. Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

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    Veronica Ortega

    2013-01-01

    Full Text Available We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9. Parental chromosome analysis showed both parents to be carriers of inv(9 and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21 Roberstonian translocation in 11 cells and an unbalanced (21;21 Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9(p11q13x2,der(15;21(q10;q10[11]/46,XX,inv(9(p11q13x2,+21,der(21;21(q10;q10. Mother was a carrier for the Cystic Fibrosis (delta F508, Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

  3. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

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    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.

  4. 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.

  5. 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.

  6. [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.

  7. The girl child and the family.

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    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.

  8. Amniotic fluid stem cells with low γ-interferon response showed behavioral improvement in Parkinsonism rat model.

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    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.

  9. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery

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    Lenco, Juraj; Vajrychova, Marie; Link, Marek; Tambor, Vojtech; Liman, Victor; Bullarbo, Maria; Nilsson, Staffan; Tsiartas, Panagiotis; Cobo, Teresa; Kacerovsky, Marian; Jacobsson, Bo

    2016-01-01

    Objective The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD) in mid-trimester amniotic fluid from asymptomatic women. Methods 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. Results 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). Conclusions 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. PMID:27214132

  10. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

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    Christiano, A M; Pulkkinen, L; McGrath, J A; Uitto, J

    1997-04-01

    Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable method of prenatal diagnosis of EB was a fetal skin biopsy performed at 16-20 weeks' gestation and analysed by electron microscopy. Recently, the genes LAMA3, LAMB3, and LAMC2, encoding the polypeptide subunits of laminin 5, an anchoring filament protein, have been shown to contain mutations in H-JEB. In this study, direct detection of pathogenetic mutations in the laminin 5 genes was used to perform polymerase chain reaction (PCR)-based prenatal testing. DNA was obtained by chorionic villus sampling (CVS) at 10-15 weeks or amniocentesis at 12-19 weeks' gestation in 15 families at risk for recurrence of JEB. In 13 cases, the fetus was predicted to be either genetically normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in all cases by the birth of a healthy child. In two cases, an affected fetus was predicted, and the diagnosis was confirmed by subsequent fetal skin biopsy. These results demonstrate that DNA-based prenatal testing offers an early, expedient, and accurate method of prenatal diagnosis or an exclusion of Herlitz JEB. PMID:9160387

  11. Ehlers-Danlos syndrome type IV

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    Germain Dominique P

    2007-07-01

    Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

  12. 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.

  13. 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.

  14. 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.

  15. Hemolytic disease of the newborn due to anti-jkb: case report and review of the literature.

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    Velasco Rodríguez, Diego; Pérez-Segura, G; Jiménez-Ubieto, A; Rodríguez, M A; Montejano, L

    2014-06-01

    Although anti-Jkb is a well-defined cause of severe acute or delayed hemolytic transfusion reactions, it is rarely associated with severe Hemolytic Disease of the Newborn (HDN), even with high antibody titer. To date, only 13 cases have been reported, so the possible reasons for that still remain unclear. Most of HDN due to anti-Jkb are mild-to-moderate, and usually have a good prognosis. A 41-years-old woman, who had a positive antibody screening test in her 13th week of pregnancy, was sent to the blood bank for study before an amniocentesis. Antibody identification and red blood cell (RBC) phenotyping of the patient and his husband were performed, plus arrays study in the amniotic fluid. An anti-Jkb was identified in the patient's serum with a titer of 1:1, and her RBC phenotype was O Rh(D) positive, C(+), c(+), E(-), e(+), K(-), Jka(+), Jkb(-). The RBC genotype of the fetus was B Rh(D) positive, Jka(+), Jkb(+). Antibody titer remained stable and the pregnancy was uneventful. At birth, there was no need of phototherapy or exchange transfusion for the newborn and her Jk(b+) typing result was confirmed in a cord blood sample. Although most of HDN cases due to anti-Jkb have a good outcome, monitoring antibody titer should be done to prevent fatal complications. Furthermore, antenatal antibody screening should be performed in every pregnant woman irrespective of her Rh(D) antigen status in order to detect red cell alloimmunization to other clinically significant blood group antigens. PMID:24839369

  16. Feminist discourse on sex screening and selective abortion of female foetuses.

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    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. PMID:15341033

  17. 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.

  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. PMID:7636406

  19. 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

  20. 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.

  1. 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

  2. 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. PMID:17603803

  3. 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.

  4. A Non-Invasive Droplet Digital PCR (ddPCR Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity.

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    Emmanuel Debrand

    Full Text Available Non-invasive prenatal diagnosis (NIPD makes use of cell-free fetal DNA (cffDNA in the mother's bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5-1% risk of fetal loss. We describe a droplet digital PCR (ddPCR assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in the cffDNA, it is possible to predict whether the fetus will be an unaffected carrier (absence or whether further invasive testing is indicated (presence.We selected a family in which the parents were known to carry different mutated CFTR alleles as our test system. NIPD was performed for three of their pregnancies during the first trimester (at around 11-12 weeks of gestation. Taqman probes were designed against an amplicon in exon 11 of the CFTR gene, to quantify the proportion of mutant (ΔF508-MUT; FAM and normal (ΔF508-NOR; VIC alleles at position c.1521_1523 of the CFTR gene.The assay correctly and unambiguously recognized the ΔF508-MUT CFTR allele in the cffDNA of all three proband fetuses and none of the six unaffected control fetuses. In conclusion, the Bio-Rad QX100 was found to be a cost-effective and technically undemanding platform for designing bespoke NIPD assays.

  5. A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

    Science.gov (United States)

    Debrand, Emmanuel; Lykoudi, Alexandra; Bradshaw, Elizabeth; Allen, Stephanie K.

    2015-01-01

    Introduction Non-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother’s bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5–1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in the cffDNA, it is possible to predict whether the fetus will be an unaffected carrier (absence) or whether further invasive testing is indicated (presence). Methods We selected a family in which the parents were known to carry different mutated CFTR alleles as our test system. NIPD was performed for three of their pregnancies during the first trimester (at around 11–12 weeks of gestation). Taqman probes were designed against an amplicon in exon 11 of the CFTR gene, to quantify the proportion of mutant (ΔF508-MUT; FAM) and normal (ΔF508-NOR; VIC) alleles at position c.1521_1523 of the CFTR gene. Discussion The assay correctly and unambiguously recognized the ΔF508-MUT CFTR allele in the cffDNA of all three proband fetuses and none of the six unaffected control fetuses. In conclusion, the Bio-Rad QX100 was found to be a cost-effective and technically undemanding platform for designing bespoke NIPD assays. PMID:26561302

  6. Brachydactyly

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    Aglan Mona S

    2008-06-01

    Full Text Available Abstract Brachydactyly ("short digits" is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If

  7. Brachydactyly.

    Science.gov (United States)

    Temtamy, Samia A; Aglan, Mona S

    2008-01-01

    Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a

  8. Quantitative analysis of DNA levels in maternal plasma in normal and Down syndrome pregnancies

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    Stejskal David

    2002-05-01

    Full Text Available Abstract Background We investigated fetal and total DNA levels in maternal plasma in patients bearing fetuses affected with Down syndrome in comparison to controls carrying fetuses with normal karyotype. Methods DNA levels in maternal plasma were measured using real-time quantitative PCR using SRY and β-globin genes as markers. Twenty-one pregnant women with a singleton fetus at a gestational age ranging from 15 to 19 weeks recruited before amniocentesis (carried out for reasons including material serum screening and advanced material age, and 16 pregnant women bearing fetuses affected with Down syndrome between 17 to 22 weeks of gestation were involved in the study. Results The specificity of the system reaches 100% (no Y signal was detected in 14 women pregnant with female fetuses and the sensitivity 91.7% (SRY amplification in 22 of 24 examined samples. The median fetal DNA levels in women carrying Down syndrome (n=11 and the controls (n=13 were 23.3 (range 0–58.5 genome-equivalents/ml and 24.5 (range 0–47.5 genome-equivalents/ml of maternal plasma, respectively (P = 0.62. The total median DNA levels in pregnancies with Down syndrome and the controls were 10165 (range 615–65000 genome-equivalents/ml and 7330 (range 1300–36750 genome-equivalents/ml, respectively (P = 0.32. The fetal DNA proportion in maternal plasma was 0%-6 % (mean 0.8% in women carrying Down syndrome and 0%-2.6 % (mean 0.7 % in the controls, respectively (P=0.86. Conclusions Our study revealed no difference in fetal DNA levels and fetal DNA: maternal DNA ratio between the patients carrying Down syndrome fetuses and the controls.

  9. Skeletal abnormalities in fetuses with Down`s syndrome: a radiographic post-mortem study

    Energy Technology Data Exchange (ETDEWEB)

    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.

  10. Noninvasive prenatal testing by maternal plasma DNA analysis: current practice and future applications.

    Science.gov (United States)

    Chiu, Rossa W K

    2014-01-01

    Prenatal screening of fetal chromosomal aneuploidies and some common genetic diseases is an integral part of antenatal care. Definitive prenatal diagnosis is conventionally achieved by the sampling of fetal genetic material by amniocentesis or chorionic villus sampling. Due to the invasiveness of those procedures, they are associated with a 1 in 200 chance of fetal miscarriage. Hence, researchers have been exploring noninvasive ways to sample fetal genetic material. The presence of cell-free DNA released by the fetus into the circulation of its mother was demonstrated in 1997. Circulating fetal DNA is therefore obtainable through the collection of a blood sample from the pregnant woman without posing any physical harm to the fetus. By analyzing this source of fetal genetic material, researchers have succeeded in developing DNA-based noninvasive tests for the assessment of Down syndrome and single gene diseases. Since the end of 2011, tests for the noninvasive assessment of chromosomal aneuploidies have become commercially available in parts of the world. Recommendations from professional groups have since been made regarding how these tests could be incorporated into the framework of existing prenatal screening programs. More recently, cell-free circulating fetal DNA analysis have been shown to be applicable to the deciphering of the fetal molecular karyotype, genome and methylome. It is envisioned that an increasing number of the noninvasive prenatal tests will become clinically available. The ethical, social and legal implications of the introduction of some of these tests would need to be discussed in the context of different cultures, societal values and the legal framework. PMID:25083893

  11. Double nondisjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21

    Energy Technology Data Exchange (ETDEWEB)

    Bravo, R.R.; Shulman, L.P.; Tharapel, A.T. [Univ. of Tennessee, Memphis (United States)] [and others

    1994-09-01

    The occurrence of multiple aneuploidy is quite rare, and the mechanisms by which it arises have not been well-characterized except in cases of 49,XXXXX and 49,XXXXY. These originate by successive nondisjunction of the X chromosomes in meiosis I and meiosis II, giving rise to a gamete with four X chromosomes. Here, we describe a case of double trisomy involving chromosome 21 and the X chromosome. The 19-year-old patient underwent amniocentesis at 17.5 weeks gestation following a positive serum analyte screen (estimated 1/120 risk of Down syndrome). Ultrasound findings at the time of the procedure were ventricular septal defect, dilated renal calyx, clinodactyly, and a two-vessel cord. Cytogenetic analysis revealed a nonmosaic karyotype of 48,XXX,+21. The couple opted for pregnancy termination. A comfimatory karyotype could not be obtained due to microbial contamination of the products of conception. Therefore, we used a {open_quotes}touch prep{close_quotes} procedure to deposit fetal cells on microscope slides and performed interphase FISH (fluorescence in situ hybridization) to confirm the presence of three X chromosomes and three copies of chromosome 21. Microsatellite polymorphisms in the mother, father, and fetus were used to evaluate segregation of the X and 21 chromosomes. Based on the results obtained with the most centromeric loci, both extra chromosomes arose from nondisjunction in maternal meiosis II. More distal markers showed evidence of recombination in both chromosomes. To our knowledge, this is the first report of a double trisomy arising by this mechanism. Based on our results and those reported for tetrasomy/pentasomy X, we postulate that multiple aneuploidies are more likely to arise by related errors (involving a single chromosome or a single cell division) than by independent errors (in different cell divisions or different gametes).

  12. 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.

  13. Maternal obesity affects fetal neurodevelopmental and metabolic gene expression: a pilot study.

    Directory of Open Access Journals (Sweden)

    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.

  14. [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

    2013-01-01

    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.

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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。

  1. 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。

  2. 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.

  3. Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

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    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

  4. 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

    Institute of Scientific and Technical Information of China (English)

    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.

  5. Citomegalovirose congênita: relato de caso Congenital cytomegalovirus infection: a case report

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    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.

  6. 超声与高场MRI检查诊断胎儿Dandy-Walker综合征12例分析%Ultrasonography and High-field MRI in the diagnosis of Dandy-waiker syndrome in fetus:Analysis of 12 cases

    Institute of Scientific and Technical Information of China (English)

    姚文华; 张德明; 朱成明; 王贵富

    2012-01-01

    目的 通过对产前多次超声筛查出Dandy-Walker综合征的胎儿行磁共振(MRI)检查,探讨高场MRI诊断Dandy-Walker综合征的依据和临床应用价值.方法 12例经多次超声筛查诊断为Dandy-Walker综合征的胎儿,在超声筛查72h内行高场MRI检查,同时行羊膜腔或脐静脉穿刺取羊水或脐血作染色体核型诊断.结果 超声及高场MRI均能清楚显示Dandy-Walker综合征的程度、形态、异常信号特点,可以做出定性诊断.结论 通过超声观察分析Dandy-Walker综合征的特征,并结合MRI及染色体核型分析结果,有助于对胎儿颅内结构发育异常进行更好的定性诊断,为结束妊娠提供重要依据.%Objective To discuss the basis and clinical application of High-field MRI in the diagnosis of Dandy-waiker syndrome in fetus diagnosed as Dandy-waiker syndrome through prenatal ultrasonography. Methods Twelve fetuses suspected as Dandy-waiker syndrome diagnosed by ultrasonography were subjected to MRI scan within 72 hour after ultrasonographic examination, and un-derwent amniocentesis or cordocentesis to obtain amniotic fluid, or cord, blood for diagnosing ch.romosome karyotypes. ResultS riigh-Field MRI with ultrasonography could clearly demonstrate the severity,appearance and signal features of Dandy-Walker syndrome,and make qualitative diagnosis. Conclusions Features provided by ultrasonography combined with MRI and karyotype diagnosis conduce to better qualitative diagnosis for fetal structural abnormalities brain tissue structural abnormality of fetus,and provide a very important basis for ending pregnancy.

  7. 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。

  8. Diagnóstico laboratorial do líquido amniótico Laboratory diagnosis of amniotic fluid

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    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

  9. Tentative research on the human amniotic fluid proteomics%人羊水特异蛋白质组学的探讨研究

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    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.

  10. Hypoxanthine-guanine phosophoribosyltransferase (HPRT deficiency: Lesch-Nyhan syndrome

    Directory of Open Access Journals (Sweden)

    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

  11. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

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    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

  12. 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

  13. [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

  14. 394例高龄孕妇羊水细胞遗传学分析%Prenatal diagnosis analysis of 394 pregnant women of advanced maternal age

    Institute of Scientific and Technical Information of China (English)

    田卉; 任晨春; 张海霞; 梁明宏; 王文靖

    2013-01-01

    目的:分析高龄孕妇的胎儿染色体核型,探讨高龄妊娠胎儿染色体异常发生的风险.方法:采用羊水穿刺术对394例高龄孕妇进行细胞遗传学诊断,计算高龄妊娠胎儿染色体异常的比率.同时比较35 ~ 37岁、38~40岁及≥41岁组孕妇胎儿染色体异常发生率,分析不同高龄组胎儿染色体异常的风险比率.结果:394例样本中有21例染色体核型异常,异常发生率为5.33%,高于普通人群;且随孕妇年龄增长,胎儿染色体异常发生率增加.结论:高龄孕妇所孕胎儿存在染色体异常高风险,故应常规进行产前诊断.%Objective: To analyze the fetal chromosome abnormalities of pregnant women of advanced maternal age ( AMA) , and discuss the risk of chromosome abnormalities. Methods: Fetal chromosomal karyotypes were examined in 394 pregnant women of AMA by amniocentesis. Meanwhile , the study population was divided into three groups according to maternal age; 35 -37 years old, 38-40 years old and ≥41 years old, and the risk ratio of fetal chromosome abnormalities was compared among the three groups. Results: Among 394 pregnant women of AMA, 21 cases were abnormal karyotypes with the ratio of 5. 33% , which was higher than thai in common population. And the incidence of chromosome abnormalities was increased with their age increasing. Conclusion: Risk of the fetal chromosome abnormalities is high in advanced maternal age, and the prenatal diagnosis should be performed in every pregnant woman of AMA.

  15. Cytomegalovirus Infection during Pregnancy and Its Impact on the Intrauterine Fetal Development – Case Report

    Science.gov (United States)

    Angelova, Mariya; Kovachev, Emil; Todorov, Nikolai

    2016-01-01

    AIM: The aim of this publication is to present a case of CMV infection during pregnancy, with clinical manifestations of the development of microcephaly and simultaneous dilatation of the 3rd and 4th brain ventricle at 23 weeks gestation. This article discusses the role of ultrasound screening in the second trimester of pregnancy. CASE PRESENTATION: We present the case of a 25-year-old woman with the initials S.K. in her second pregnancy that came to our antenatal Consulting Centre. The first screening for blood count, blood group, biochemistry and serology showed results within the reference range. The patient came for a second comprehensive biochemical screening at 17 – 18 weeks gestation. The results showed the low genetic risk of congenital anomalies. Fetal morphology of the fetus was normal. S.K. came again for consultation at 22 weeks gestation in connection with the admittance of her first 3-year-old child to the hospital because of pneumonia. Serological tests of the child had shown elevated CMV titer - specific IgM. Then we made new serological tests of the patient and the results have shown that the patient was most likely infected by CMV primarily in the first trimester of pregnancy. After consulting about the risk of transmission of CMV to the fetus, the woman chose monthly ultrasound scans and refused amniocentesis. At 36 weeks gestation, in addition to the microcephaly already established, enlargement of the IV brain ventricle at the expense of underdevelopment of the cerebellum was noticed. Also, 2nd to 3rd stage of placenta maturity and low quantity of amniotic fluid was established. A male fetus of weight 2,890 g and height 50 cm was delivered. The fetus was with skin petechiae and hepatosplenomegaly. Neurological examination showed no abnormalities. CONCLUSIONS: In the described case the time interval between infection and ultrasonic manifestations is more than 17 weeks. The long interval between infection and occurrence of ultrasound markers

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  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. 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.

  2. 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.

  3. 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

  4. Successful treatment of Rh alloimmunization in a twin pregnancy: case report

    Directory of Open Access Journals (Sweden)

    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

  5. 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.

  6. [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

  7. 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.

  8. Comparison of human amniotic fluid-derived and umbilical cord Wharton's Jelly-derived mesenchymal stromal cells: Characterization and myocardial differentiation capacity

    Institute of Scientific and Technical Information of China (English)

    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.

  9. 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.

  10. 桂林地区526例遗传咨询者羊水细胞染色体核型分析%Karyotype analysis of amniotic fluid cells in 526 cases for genetic consult

    Institute of Scientific and Technical Information of China (English)

    蒋群芳; 唐娟

    2012-01-01

    目的 探讨羊水细胞培养及染色体核型分析在唐氏综合征等染色体病干预中的价值.方法 对526例孕妇行羊膜腔穿刺术,羊水细胞培养、染色体制备及核型分析.结果 羊水细胞培养成功率为99.43%,检出异常核型31例,其中21-三体6例,包括嵌合型1例,13-三体1例,性染色体数目异常3例,嵌合体4例,染色体结构异常14例,多态性变异4例.结论 采用羊水细胞进行染色体核型分析对唐氏综合征等染色体异常进行产前诊断,是控制和减少出生缺陷的发生地有效措施.%Objective; To investigate the value of amniotic fluid cell culture and chromosome kaiyotype analysis in interventing Down's syndrome and other chromosomal disease. Methods; The amniocentesis were implemented among 526 cases gravidas, and amniotic fluid cell were cultured, and there karyotype were analyed. Results; The rate of training success is 99.43%. The abnormal chromosome karyotypes of 31 cases were as follows; 6 cases for trisomy 21, including 1 case for the chimeric type, 1 case for trisomy 13, 3 cases for sex chromosome abnormalities, 4 cases for mosaicism, 14 cases for structural chromosomal abnormality, 4 cases fin-polymorphic variation. Conclusion; In order to control and reduce the incidence of birth defects, it is effective measure to use amniotic fluid cell chromosome karyotype analysis for diagnosising Down's syndrome and other chromosomal abnormalities.

  11. 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.

  12. 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

  13. 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

  14. 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

  15. Diagnóstico molecular de cromosomopatías fetales en Costa Rica Molecular Diagnosis of Fetal Chromosomal Defects in Costa Rica

    Directory of Open Access Journals (Sweden)

    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

  16. 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

    Institute of Scientific and Technical Information of China (English)

    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.

  17. Diagnóstico prenatal del pie bot Prenatal diagnosis of clubfoot

    Directory of Open Access Journals (Sweden)

    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

  18. 单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究%Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    白小艺; 章钧; 田琪; 林俊伟; 侯红瑛

    2015-01-01

    [ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.%目的:探讨单核苷酸多态性芯片( SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异( CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中, SNP array检测发现176例CNVs,其中良性CNVs 106例,

  19. 眼皮肤白化病Ⅱ型产前基因诊断二例%Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 贾政军; 谢琼

    2014-01-01

    目的 对生育过眼皮肤白化病(oculocutaneous albinism,OCA)患儿的2个家系进行基因诊断分型,并在此基础上提供产前基因诊断.方法 采用PCR扩增先证者OCA1型疾病相关TYR基因的所有5个编码外显子和OCA2型疾病相关P基因的所有23个编码外显子,PCR产物直接测序,在确定致病突变的基础上对家系成员进行综合分析.结果 两例OCA先证者均未检测到TYR基因的致病突变,但均携带P基因的复合杂合突变,因此确定2例均为OCA2型患者.P基因共检测到4种突变:c.406C>T、c.535A>G、c.808-2A>G和c.2180T>C,其中c.535A>G和c.808-2A>G为新突变.2个家系的第1次产前诊断均提示胎儿基因型与先证者一致,家属选择终止妊娠.第2次产前基因诊断,2个家系中1例胎儿为P基因c.808-2A>G携带者,另1例为P基因野生型携带者.两名孕妇均继续妊娠至足月分娩,新生儿随访均正常.结论 应用基因检测可为眼皮肤白化病患者提供确切的临床分型,并在此基础上提供有效的产前基因诊断.%Objective To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA).Methods Direct sequencing of TYR and P genes was performed in two albino probands.Family members were screened for corresponding mutant alleles.Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis.Results No mutations were detected in the TYR gene in either probands,whereas 4 heterozygous mutations of the P gene were found,namely c.406C>T,c.535A>G,c.808-2A>G and c.2180T>C,among which c.535A>G and c.808-2A>G were novel.In the first round prenatal genetic testing,both fetuses were found to have the same genotypes as the probands.Both families had decided to terminate the pregnancy after genetic counseling.In the second round testing,neither of the fetuses was found to be

  20. 1421例孕中期妇女AFP和Free-βHCG联合检测的产前筛查结果分析%The Analysis Results of Prenatal Screening of Combined Detection of the Second Trimester Women AFP and Free-βHCG in 1421 Cases

    Institute of Scientific and Technical Information of China (English)

    凌显桢; 覃人记

    2013-01-01

      目的探讨孕中期(14~21周)妇女血清甲胎蛋白(AFP)和游离β-人绒毛膜促性腺激素(Free-βHCG)双联法检测在早期诊断唐氏综合征胎儿缺陷的临床应用价值。方法采用化学发光免疫分析法分别对1421例孕中期妇女血清进行AFP和Free-βHCG两项指标检测,结合妇女年龄、孕周、体质量等临床资料,通过配套的风险评估软件计算出该妇女的唐氏综合征(DS)风险率。对DS、18-三体综合征高风险的孕妇建议其进一步进行羊水穿刺产前诊断,对神经管缺陷(NTD)高风险的孕妇进行超声波检查确诊。结果在筛查的1421例孕妇中,高风险的孕妇为104例,阳性率为7.32%;其中DS高危78例占5.49%,经确诊有4例为阳性;NTD高危14例占0.99%,经确诊有2例为阳性;18-三体高危12例占0.84%,经确诊阳性率为0。结论利用孕中期妇女AFP和Free-βHCG两项指标的检测,有效地筛查出了本地区DS高风险孕妇,降低了DS缺陷儿的出生率,在减轻家庭及社会负担起到了重要的作用。%Objective Study of second trimester(14-21weeks) women serum alpha-fetoprotein(AFP) and free beta human chorionic gonadotropin(Free-βHCG) duplex assay in early diagnosis of fetal defects in Down,s syndrome clinical application value. Methods In 1421 pregnant women serum two indicators of AFP and Free-βHCG was detected by chemiluminescence immunoassay method, combined with clinical data, women,s age, gestational age, body weight, through the risk assessment software suppurting the calculation of the women of Down,s syndrome(DS) risk rate. On DS, 18-trisomy syndrome high risk pregnant women suggest the further amniocentesis in prenatal diagnosis of neural tube defects, (NTD)high risk pregnant women were ultrasonic diagnosed. Results In 1421 cases of pregnant women screening in high risk pregnant women, 104 cases, the positive rate was 7.32%;of which 78 cases of high-risk DS

  1. 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

  2. Follow-up analysis on pregnancy outcome with high risk of Down' s syndrome%唐氏筛查高危孕产妇妊娠结局随访分析

    Institute of Scientific and Technical Information of China (English)

    钟赋真; 闫学明; 赵银珠; 孟超

    2011-01-01

    To investigate the relation between high risk of Down' s syndrome and birth defect by studying the pregnancy outcome with high risk of Down' s syndrome and ultrasound screening in Xicheng district of Beijing, and to improve secondary prevention of birth defect. Methods From October 1 st of 2008 to September 30th of 2009, 466 cases with high risk of Down' s syndrome were randomly selected from Gynecological Hospitals in Xicheng district of Beijing and followed up by the way of case extraction and telephone. Results There were statistical differences among groups of different ages in screening Down' s syndrome ( X2 = 22.396, P = 0.001 ). Of 466 pregnant women with high risk of Down' s syndrome, there were 67 abnormal deliveries ( 14.4% ), including 42 cases with birth defects.Among 42 cases with birth defects, 19 were found to be abnormal before delivery by ultrasound screening, 14 by amniocentesis in screening Down' s syndrome, 4 both by ultrasound screening and Down' s syndrome screening, but 3 were not found either by Down' s syndrome screening or by ultrasound screening. Conclusion Trisomy 21 high risk is related with pregnant women' s age, and high risk of Down's syndrome is associated with abnormal pregnancy outcome and birth defects. Down' s syndrome screening and ultrasound screening could complement each other in detecting pregnancy outcome and birth defect.%目的 了解北京市西城区唐氏高危人群妊娠结局、超声筛查等情况,了解经唐氏高危者与出生缺陷的关系,完善出生缺陷的二级预防.方法 对2008年10月1日-2009年9月30日间北京市西城区产科医院随机抽取466名唐氏筛查高危患者,对每例孕产妇妊娠结局通过病案室调取病历及电话进行随访.结果 ①不同年龄组中唐氏高危筛查有明显统计学意义(χ2=22.396,P=0.001);②466例唐氏筛查高危孕妇,妊娠结局异常67例(14.4%),其中出生缺陷42例;③42例出生缺陷中,19例由超声筛查发现,14

  3. Nasal bone abnormalities accompanied by protruding tongue on ultrasound screening in detecting Down syndrome in the second and third trimesters of gestation%中晚孕期超声显示鼻骨异常伴舌外伸检出唐氏综合征

    Institute of Scientific and Technical Information of China (English)

    张晓航; 李锐; 冉素真

    2014-01-01

    目的 探讨中晚孕期超声显示胎儿颜面部鼻骨异常伴伸舌辅助诊断唐氏综合征(DS)的价值.方法 纳入资料完整的经胎儿系统超声筛查及羊水或脐带血染色体检查的中晚孕期孕妇5657名.观察并分析正中矢状切面胎儿鼻骨发育情况及舌尖位置,比较鼻骨异常、伸舌及鼻骨异常伴伸舌检出DS的效能.结果 经染色体检查确诊49胎DS,其中鼻骨异常伴伸舌33胎、单纯鼻骨异常10胎、单纯伸舌2胎,无阳性表现4胎.根据鼻骨异常伴伸舌诊断DS的敏感度、特异度、阳性预测值、阴性预测值分别为67.35%(33/49)、99.91%(5603/5608)、86.84%(33/38)和99.72%(5603/5619),其中阳性预测值较鼻骨异常、伸舌及鼻骨异常或伸舌明显增高(P<0.0001).结论 中晚孕期颜面部正中矢状切面观察胎儿鼻骨异常和伸舌的表现,可提高DS的产前检出率.%Objective To investigate the value of nasal bone abnormalities accompanied by protruding tongue on ultrasound screening in detecting Down syndrome during the second and third trimesters of gestation.Methods Data from 5657 pregnant women who had both ultrasound examination and cordocentesis or amniocentesis for antenatal karyotyping were enrolled.Nasal bone abnormalities and position of tongue tip of the fetus were observed and recorded.The diagnostic ability cacy of nasal bone abnormalities,protruding tongue and nasal bone abnormalities accompanied by protruding tongue for Down syndrome was calculated.Results Forty-nine fetuses of Down syndrome were diagnosed by antenatal karyotyping.Among them,33 with nasal bone abnormalities accompanied by protruding tongue,2 with protruding tongue alone,10 with nasal bone abnormalities alone and 4 with no abnormality.The diagnostic sensitivity,specificity,positive and negative predictive values of nasal bone abnormalities accompanied by protruding tongue was 67.35 % (33/49),99.91% (5603/5608),86.84% (33/38) and 99.72% (5603

  4. Estimated 2nd Trimester Maternal Serum Markers AFP & HCG Moms for Down'S Syndrome Screening in Macao%第二妊娠期母血清甲胎球蛋白及人類絨毛膜促性腺激素篩選唐氏綜合症標記

    Institute of Scientific and Technical Information of China (English)

    王強; 梁敏慧; 林勇行

    2001-01-01

    目的進行第二妊娠期母血清甲胎球蛋白及人類絨毛膜促性腺激素篩選唐氏綜合症標記的測定.方法從1998年8月起,對澳門35歲以下,懷孕期在14至20孕週,單胎懷孕並且無明顯家族及染色體遺傳史的孕婦,通過産前診斷咨詢門診,利用電子計算機軟件程式,分別對孕婦的年齡、身高、體重、以及甲胎球蛋白及人類絨毛膜促性腺激素進行運算,得出有關的數值.所有數值如大於1/250者將被視爲陽性.其後,有關孕婦將被轉介作羊水檢驗以確診之.結果其中有三例羊水檢驗證實爲唐氏綜合症胎兒.該項檢驗的假陽性率爲1/17.但其中一例出現假陰性(高齡孕婦,同時接受了羊水檢驗並確診).該母血篩選檢查的準確性約60%.結論該項35歲以下,懷孕期在14至20週唐氏綜合症檢驗在澳門中國婦女人口中是可行的及可接受的.%Objective Offered second-trimester serum AFP and hCG screening study to pregnant women younger than 3 5 years should be offered maternal serum screening at 16 to 18 weeks of gestation and without other risk factors for chromosomal abnormalities. Materials Between August 1998 and January 2001, we Each woman was assigned a risk of having a Downis syndrome term pregnancy by using a computer software program that took into account her age, weight, AFP and hCG MoMs. All those with a risk of one in 250 or greater were designated screen-positive, subject to the revision of gestation by ultrasound examination. Results After revision of the gestation by ultrasound examination, 89 of them (97 per cent) accepted the offer of amniocentesis. Downis syndrome and all the women elected pregnancy termination affected two of these pregnancies. The odds of being affected, given a positive screening result, were one in 17. The screening programmed missed one Downis syndrome pregnancy. The detection rate was 60 per cent. Conclusion The study showed that second-trimester serum screening for

  5. 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

  6. 湘潭地区344例遗传咨询高危孕妇羊水染色体分析在产前诊断中的应用%Application of amniotic fluid's chromosome analysis in prenatal diagnosis for 344 cases of genetic counseling high risk pregnancy

    Institute of Scientific and Technical Information of China (English)

    熊敏; 王淑嫒; 孙辉

    2011-01-01

    Objective; To investigate the application of amniotic fluid's chromosome analysis in prenatal diagnosis. Methods; Am-niotic fluid (20-30 ml) was drawn from fetuses of 344 pregnant mothers who were diagnosed in prepotency department, Xiangtan MCH Hospital from Jun. 2007 to Aug. 2010 with high risks of genetic counseling, by amniocentesis under ultrasound monitoring at 18 -28 gestational age, and then amniotic - fluid cell culture's C - banding was examed by using amniotic - fluid chromosomal karyo-type analysis. Results; Amniotic cell culture was successfully undertaken in 342 among the 344 cases. The success rate of amniotic cell culture was 99. 41% (342/344). There were 15 cases found karyotype abnormal, the abnormal rate was 4. 39% (15/342) which includes 3 of 21 -trisomy, 2 of 18 -trisomy, 2 of Turner Syndrome (TS) , 1 of 48, XXY, +21, 4 of balanced translocation, 1 of inversion, lof trisomy, 1 of monosomy, 10 of genetic diversity. The abnormal karyotype analysis for karyotype of amniotic cell was consistent with the results of succedent visit. Conclusion; Amniotic fluid's chromosome analysis plays an important part when diagnosing chromosome diseases in prenatal diagnosis.%目的 探讨羊水染色体分析在产前诊断中的应用.方法 对344例2007年6月至2010年8月湖南省湘潭市妇幼保健院遗传咨询高危孕妇,于孕18~28周在B超引导下进行羊膜腔穿刺,抽取羊水20~30ml,羊水细胞培养G显带进行羊水染色体核型分析.结果 344例孕妇羊水羊水细胞培养成功342例,成功率为99.41%(342/344),发现异常核型15例,异常率为4.39%(15/342),其中21-三体3例、18-三体2例、特纳综合征2例、48,XXY,+21 1例、平衡易位4例、倒位1例、部分染色体三体1例、部分染色体单体1例;遗传多态性10例.羊水染色体异常核型分析与随访结果一致.结论 说明羊水染色体分析在产前诊断染色体病中起着重要的作用.

  7. Low density lipoprotein receptor gene mutation of amniotic cell in the prenatal diagnosis of familial hypercholesterolemia%羊水细胞低密度脂蛋白受体基因突变分析在家族性高胆固醇血症产前诊断中应用

    Institute of Scientific and Technical Information of China (English)

    徐胜媛; 潘晓冬; 孙立元; 蔺洁; 刘俊涛; 姚凤霞; 杜兰萍; 王绿娅

    2012-01-01

    Objective To evaluate the value of low density lipoprotein receptor (LDLR) gene mutation of amniotic cell to the prenatal diagnosis of familial hypercholesterolemia (FH). Methods Three women delivering severe FH children and their core family pedigrees were extracted genomic DNA from peripheral blood and screened LDLR gene mutations. Amniotic fluid was drawn through amniocentesis under ultrasound in 16 to 20 weeks of re-pregnancy, and fetal DNA was extracted to detect the LDLR gene exons with family mutation and to determine whether the fetuses were severe FH. Results All the family pedigrees were accorded with the diagnostic standard of FH, and two different LDLR gene heterozygous mutations were detected in each family. The results of fetal LDLR gene DNA sequencing analysis showed that fetus in the first family carried one of family mutations and was assessed FH heterozygous (mild), fetus in the second family carried two of family mutations and was assessed compound heterozygous (severe), and fetus in the third family was not detected any LDLR mutations of the family and was assessed normal individual. Conclusion LDLR gene DNA sequencing analysis of amniotic cells in FH families is safe and effective for FH pregnant women, and it can detect FH homozygous fetus early.%目的 探讨羊水细胞低密度脂蛋白受体(low density lipoprotein receptor,LDLR)基因突变分析在家族性高胆固醇血症( familial hypercholesterolemia,FH)产前诊断中的应用价值.方法 3例曾生育FH重症患儿并再次妊娠的妇女及其核心家系成员,提取其外周血基因组DNA,筛查LDLR基因突变;于妊娠16~20周在超声引导下行羊膜腔穿刺术抽取羊水,提取胎儿脱落细胞DNA,分别对家系存在的LDLR基因突变进行检测,判断胎儿是否为重症FH.结果 3个家系均符合FH诊断,并分别在LDLR基因检测到2个互不相同的杂合突变位点;胎儿LDLR基因核苷酸序列分析证实,1号家系胎儿仅携带该家系1

  8. 宁波市4539例高龄孕妇胎儿染色体异常发生情况分析%Analysis of fetal chromosomal karyotypes in 4539 elderty gravida in Ningbo, China

    Institute of Scientific and Technical Information of China (English)

    潘婕文; 陈志央; 余颀; 陈怡博; 庄丹燕; 王飞

    2014-01-01

    Objective To analysis and summary the chromosome abnormal existing in old pregnant women from 2002 to 2013,and to provide basis for clinicians intervene the fetus with chromosome disorders.Methods The 4 539 pregnant women in Ningbo city from 2002 August to 2013 October accepted the fetal karyo type detection,were retrospective analyzed,the frequency of abnormal chromosomal karyotypes was calculated according to different age groups,and the pregnancy outcomes of the old pregnant women were followed up.Thechi-square testswere performed on the frequency dateof the abnormal chromosome karyotype,polymorphism,and serum screening of high risk for fetal chromosome detection of less than 35-years-old pregnant women.Results The total of advanced maternal age pregnancyduring the past 11 years in Ningbo City is 32 080,and the follow-up rate was 99.90%,there are 10 infants borned with chromosomal abnormalities,the 1 290 caseswere detected withadverse pregnancy.A total of 4 539 advanced maternal age pregnancyaccepted amniocentesis,in those we found 107 cases of chromosome abnormality fetus,116 cases of polymorphism.A total of 5 232 high-risk pregnant women accepted the serum screening in the same period (less than 35 years old),finding 135 cases of fetal chromosome abnormal and 69 cases of polymorphism.Conclusion To strengthen the prenatal diagnosis,especially for puerperae above the age of 39,will lower the birth rate of infants with chromosome disease and will be conducive to the high quality of population in Ningbo.%目的 分析宁波市高龄孕妇胎儿染色体异常发生情况,为临床干预染色体疾病胎儿的出生提供依据.方法 回顾性研究.对宁波市2002年8月至2013年10月行胎儿染色体核型检测的4 539例高龄孕妇,按年龄分组作胎儿染色体异常发生率统计.追踪随访高龄孕妇的妊娠结局.对35岁以下孕妇染色体核型异常、多态性与血清筛查高风险进行x2检验.结果 11

  9. 胎儿9号染色体臂间倒位与产前诊断指征的关系%The relationship between pericentric inversion of chromosome 9 of fetus and the indications of prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    覃婷; 田矛; 莫伟英; 施月秋; 许莉莉

    2011-01-01

    目的 探讨孕妇高龄与唐氏综合征血清学筛查高危与胎儿9号染色体臂间倒位(inv (9))的关系.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的inv(9)胎儿的产前诊断指征.结果 唐氏筛查高危的孕妇胎儿inv(9)检出率为0.91%,高于普通人群inv(9)染色体异常检出率,高龄孕妇胎儿inv(9)染色体异常检出率0.71%,低于普通人群inv(9)染色体异常检出率,但2组孕妇的胎儿inv(9)染色体异常检出率与普通人群inv(9)染色体异常检出率差异无显著性.结论 唐氏综合征筛查高危,孕妇高龄均不是胎儿染色体inv(9)的高危因素.%Objective: To study the relationship between the women with advanced maternal age and the pericentric inversion of chromosome 9 ( inv (9)), and the relationship between the pregnant women at high risk for Down syndrome through serologic screening and the pericentric inversion of chromosome 9 ( inv (9) ). Methods: To analyze the indications of the prenatal diagnosis of the ( inv (9)) fetuses who have an amniocentesis or cordocentesis in our hospital due to various reasons from October 2004 - August 2009. Results: The detection rate of fetal inv (9) of pregnant women who were at high risk for Down syndrome was 0. 91%, which is higher than the detection rate of inv (9) chromosome abnormality of the common people. The detection rate of inv (9) chromosome abnormality of fetuses of elderly pregnant women was 0. 71%, which is lower than the detection rate of inv (9) chromosome abnormality of the common people. However, there is no significant difference between the detection rate of inv (9) chromosome abnormality of fetuses of pregnant women of Group 2 and the detection rate of inv (9) chromosome abnormality of the common people. Conclusions: The high risk for Down syndrome through screening and the advanced maternal age are not the high risk factors of the fetal chromosome 9

  10. Correlations between Fetal Congenital Cardiovascular Anomalies and Chromosomal karotypes%胎儿染色体核型与先天性心血管畸形发生的相关研究

    Institute of Scientific and Technical Information of China (English)

    郭辉; 林琳华; 任景慧; 李启运; 林秀华; 曾君; 梁灼健

    2014-01-01

    Objective To investigate the distribution of congenital cardiovascular malformations in fetuses with chromosomal abnormalities.Method Congenital cardiovascular malformations of fetuses were diagnosed by prenatal ultrasonic cardiography from Jan 2011 to Sep 2013,and whose chromosomal karotype were tested by amniocentesis or cordocentesis.The association between chromosomal karyotypes and distribution of congenital cardiovascular malformations was analyzed.Result In 173 Fetuses with chromosomal abnormalities,20(11.56%) cases had congenital cardiovascular malformations,including seven 21-trisomies,eight 18-trisomies,three 13-trisomies and two 45,X.64% (16/25) fetuses with congenital cardiovascular malformations accompanied with other malformations had chromosomal abnormalities.Only 1.87% (52/4379) fetuses with normal karotype had congenital cardiovascular malformations.Conclusion Chromosomal abnormality is the most reason of complicate CHD.Chromosomal karotype test should be detected in fetus with complicate CHD.%目的 对产前诊断中胎儿染色体核型异常与超声确诊的先天性心血管畸形的发生进行相关研究.方法 2011年1月至2013年9月在本院进行产前诊断的胎儿进行羊水或脐带血染色体核型检查,在孕中期胎儿超声心动图检查胎儿心血管发育状况,对核型与B超结果进行分析.结果 4482例行产前羊水或脐带血核型分析的胎儿中,核型异常173例(数目异常91例.结构异常74例,嵌合体8例),其中20例超声心动图检查发现心血管畸形(21-三体7例,18-三体8例,13-三体3例,X单体2例),心血管畸形发生率11.56%(20/173).染色体异常胎儿先天性心血管畸形合并心外畸形16例(21-三体5例,18-三体7例,13-三体3例,X单体1例),占所有合并心外畸形胎儿的64.00%(16/25).仅有先天性心血管畸形的胎儿染色体异常率8.51%(4/47).染色体核型未见异常的胎儿心血管畸形发生率1.87%(52/4379),其中9

  11. 南宁地区1790例高龄孕妇妊娠中晚期胎儿染色体核型分析%Analysis of chromosomal karyotypes on 1790 advanced pregnancy women during the second and third trimesters of gestation

    Institute of Scientific and Technical Information of China (English)

    张强; 周元圆; 费冬梅; 黄红倩; 刘天盛; 张海燕

    2012-01-01

    目的 通过对高龄孕妇的羊水、脐带血进行培养及核型分析来探讨高龄孕妇所孕胎儿染色体异常情况及三体发生率与年龄的相关性,为遗传咨询和产前诊断提供理论依据.方法 通过对2010年至2011年,两年间在我院遗传门诊就诊的1790例高龄(≥35周岁)孕妇进行羊膜腔穿刺或脐带血管穿刺,抽取羊水及脐带血做细胞培养,观察培养情况,并进行核型分析.分析高龄孕妇染色体异常核型检出情况.结果 1790例高龄孕妇中共检出核型异常158例,异常检出率为8.82%.在不同年龄组,35 - 37岁,38 - 40岁,≥41岁三体发病率分别为1.06%,1.42%,2.08%.结论 高龄孕妇随年龄增长染色体异常几率增加,高龄孕妇有必要行产前诊断.%Objective: To analyze the fetal chromosomal karyotypes and trisomy incidence with age from amniotic fluid and cord blood samples obtained by cordocenteses during the second and third trimesters, and to investigate the types of chromosomal abnormalities, as well as the relationship between the abnormal karyotypes and the indications of prenatal diagnosis. Methods: Through 2010 to 2011 in our hospital to genetic clinics in 1790 cases of elderly pregnant women ( ≥35) undergoing amniocentesis or umbilical cordblood draw, through cell culture training and karyotype analysis. Analysis of the abnormal chromosome karyotype in women of advanced maternal age. Results; 158 cases of chromosome abnormalities were detected among 1790 prenatal diagnostic samples with the abnormal rate of 8. 8%. The incidences of trisomy 21 is different among the pregnant women with different ages. The ration is 1.06% in 35 -37 years old, 1.42% in the 38 -40 years old, 2.08% is over 41 years old. Conclusions; Risk of fetal chromosome abnormalities is higher in advanced pregnant women, appropriate techniques should be used to screen fetal chromosomes during different gestation weeks in advanced pregnant women.

  12. Application of middle and late pregnancy amniotic cell culture united to FISH in prenatal diagnosis%中晚孕期羊水细胞培养联合FISH在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    张建芳; 徐慧; 燕凤; 陈必良

    2011-01-01

    Objective: To investigate the application value of improved amniotic cell culture united to FISH (fluorescente in situ hybridization) in prenatal diagnosis of middle and late pregnancy. Methods; 71 gravida possessing prenatal diagnosis indication ac-cepted improved amniotic cell culture and FISH to analyze fetal karyotype. Gestational weeks were among 25 to 39. Results:Achieve-ment ratio of cell culture and FISH were both up to 100%. 8 abnormal karyotype were found, including 3 trisomy 18,1 trisomy 13, 1 Trisomy X, 1 heterosome chimera, one each in chromosomal 4 and 9 pericentric inversion. Coincidence rate of karyotype and FISH was 100% , except pericentric inversion because of which exceeding detection limit of FISH. Conclusion: Amniotic cell culture and karyo-type analysis acciciated FISH was feasible in comparatively large gestational weeks. It can diagnose chromosomal disorder quickly and exactly, and extend the time window of amniocentesis, cut down the risk of venipuncture.%目的 探讨改良的羊水细胞培养技术联合荧光原位杂交( FISH)对中晚孕期孕妇进行产前诊断的应用价值.方法 改进培养方法、建立收获标准、改良染色体制备过程,对71例孕25 - 39 w具有产前诊断指征的孕妇进行羊水细胞培养并联合FISH进行核型分析.结果 羊水细胞培养和FISH分析成功率均为100%.发现异常核型8例,异常比例为11.3%.其中18三体3例,13三体1例,47,XXX 1例,4号和9号染色体臂间倒位各1例,46,XY/45,X0嵌合体1例;除4号和9号染色体臂间倒位不在FISH检测范围外,其余6个染色体异常FISH与核型均同时检出,两者符合率100%.结论较大孕周同样可以进行羊水细胞培养和染色体分析,联合FISH可快捷明确地诊断染色体病,使羊膜腔穿刺进行产前诊断的时间窗延长,降低脐静脉穿刺率和风险.

  13. 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

  14. Analysis of prenatal sonographic features in fetus with trisomy 18%18-三体综合征胎儿产前超声特征分析

    Institute of Scientific and Technical Information of China (English)

    钟晓红; 谢小健; 吴幼平; 何晓琴; 张艳红; 路晶; 阮爱花

    2012-01-01

    Objective To study the prenatal sonographic features in fetuses with trisomy 18. Methods The ultrasonography findings of 54 fetuses with trisomy 18 confirmed by amniocentesis and cordocentesis were reviewed and the ultrasonogram characteristics of trisomy 18 were summarized. Results Forty-eight cases( 88.9%, 48/54) of 54 fetuses with trisomy 18 had abnormal sonographic finding. Among 33 cases, at least two abnormalities were found simultaneously(61.1%, 33/54). Cardiac defects were the most common findings which accounted for 62.9% among all the cases. The less abnormal sonographic findings included choroid plexus cysts, single umbilical artery, polyhydramnios, echogenic intracardiac focous, short limbs measurements or abnormal gestures, cleft of lip and palate, mild hydronephrosis, The other abnoumal findings included omphalocele, Dandy-Walker syndrome, atresia esophagus,intrauterine growth retardation(IUGR), and so on. The above abnormal findings were indicated by prenatal ultrasonography. The ventricular septal defect combined with abnormal gesturesar micrognathia was found in 3 cases, mandibular micrognathia was showed in 2 cases and 1 case with low-set, malformed ears were not diagnosed by prenatal ultrasonography. Conclusion Prenatal ultrasonography is helpful to find the abnormalities in fetus with trisony 18, which are significant for clinical diagnosis.%目的 探讨18-三体综合征胎儿的产前超声声像图特征.方法 回顾性分析经染色体核型分析确诊为18-三体综合征的54例胎儿声像图表现,总结归纳18-三体综合征胎儿产前超声表现特点.结果 54例18-三体综合征胎儿中,48例(88.9%)产前有异常超声表现,33例(61.1%,33/54)合并两种以上异常,最多见的为心脏畸形,共34例,占62.9%;其次有脉络丛囊肿、单脐动脉、羊水量过多、心室斑状强回声、四肢骨骼或姿势异常、唇腭裂、肾盂分离,其他异常表现还有脐膨出、Dandy-Walker综合征、食道

  15. Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital Universitário Analysis of fetal and maternal results from fetal genetic invasive procedures: an exploratory study at a University Hospital

    Directory of Open Access Journals (Sweden)

    Mario Kohatsu

    2012-12-01

    Full Text Available OBJETIVO: Caracterizar as indicações das gestantes que procuraram o serviço de Medicina Fetal do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo para realização de procedimentos invasivos diagnósticos e avaliar os resultados dos cariótipos fetais e de suas gestações. MÉTODOS: Estudo observacional retrospectivo das gestantes que realizaram biópsia de vilo corial (BVC, amniocentese e cordocentese no período de fevereiro de 2005 a dezembro de 2009. Não foram incluídos outros procedimentos diagnósticos ou procedimentos terapêuticos. O resultado da gestação foi obtido através de consulta de prontuário eletrônico e/ou físico e/ou contato telefônico. RESULTADOS: Foram realizados 713 procedimentos (113 BVC, 340 amniocenteses e 260 cordocenteses. A principal indicação para a realização dos procedimentos invasivos foi a presença de alterações estruturais nos fetos, seguido por valores aumentados da translucência nucal e pela idade materna avançada. O cariótipo fetal esteve alterado em 186 casos (26,1%. A trissomia do cromossomo 18 foi a aneuploidia mais comum, seguida pela trissomia do 21, a monossomia do X e a trissomia do cromossomo 13. Ocorreram 4,9% de abortamento, 25,7% de natimortos e 13% de neomortos. Oito gestantes optaram pela interrupção judicial, e 99% das gestantes cujos fetos não apresentavam malformação e que apresentavam cariótipo fetal normal tiveram nativivos.OBJECTIVE: To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. METHODS: A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS, amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic

  16. Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome%胎儿单脐动脉与胎儿染色体异常疾病的产前诊断

    Institute of Scientific and Technical Information of China (English)

    常清贤; 陈翠华; 钟梅; 裘毓雯; 肖超群; 黄启涛; 余艳红

    2013-01-01

    Objective To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes. Methods From January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes. Results Of all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score. Conclusions Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.%目的 分析单脐动脉是否合并其他异常时与胎儿染色体疾病的关系及新生儿预后.方法 对本院产前诊断中心2008年1月~2012年6月通过彩色多普勒超声诊断为单纯性单脐动脉及单脐动脉合并其他异常的胎儿,行羊膜腔穿刺取羊水及脐静脉穿刺取脐带血,常规进行染色体核型分析并对出生后的婴儿追踪随访观察.结果 经超声诊断为单脐动脉进行染色体检查的孕妇共44名,其中单纯性单脐动脉24例;单脐动脉合并其他异常20例,其中单脐动脉合并超声软指标异常8例,单脐动脉合并胎儿发育异常12例.单纯性单脐动脉组(n=24)与单脐动脉合并其他异常组(n=20)间分娩孕周和胎儿染色体异常的发生率有显著性差异.胎儿出生体质量,出生后APGAR评分及胎盘质量间,两组无明显差异.结论 对超声检查诊

  17. 三种唐氏筛查方法的统计学评价%Statistical evaluation on three tests for Down's syndrome serum screening

    Institute of Scientific and Technical Information of China (English)

    王华; 孙振球; 谢琼; 唐华; 贾政军; 谢冬华

    2012-01-01

    Objective; To compare the efficiency of the three tests for Down's syndrome serum screening. Methods; collect samples from prenatal diagnostic center in Hunan province. The double test examined PAPPA + Free β - HCG; the triple test examined AFP + Free β - HCG + uE3. Combining the age, weight, weeks of gestation to calculate the risk by software. To the high - risk pregnant women, check them with Amniocentesis and B - ultrasound until the children were born. Result; in the team of younger than 35, youden index of test during first trimester of pregnancy is 54. 82% , Area under curve is 0. 774; youden index of double test during second trimester of pregnancy is 61. 74% , Area under curve is 0. 809; youden index of triple test during second trimester of pregnancy is 64. 50% , Area under curve is 0. 822. In the team of older than 35, youden index of test during first trimester of pregnancy is 39. 13% , Area under curve is 0. 696; youden index of double test during second trimester of pregnancy is 41. 04% , Area under curve is 0. 705 ; youden index of triple test during second trimester of pregnancy is 55. 58% , Area under curve is 0. 778. Conclution; The efficiency of the triple test is higher than double test during second trimester of pregnancy and double test during second trimester of pregnancy is higher than double test during fisrt trimester of pregnancy whatever younger or older than 35.%目的 比较三种唐氏筛查方法的筛查效率.方法 收集湖南省产前诊断中心数据,二联筛查方案为PAPPA+Free β - HCG,三联筛查方案为AFP+ Free β - HCG+ uE3,结合孕妇年龄、体重、孕周等因素运用软件计算风险率.对高风险孕妇进行羊水染色体检查及B超检查,每个孕妇随访追踪到胎儿出生.结果 < 35岁组,孕早期筛查约登指数54.82%,曲线下面积(AUC)为0.774;孕中期二联筛查约登指数61.74%,曲线下面积(AUC)为0.809;孕中期三联筛查约登指数64.50

  18. Non-invasive prenatal diagnosis for homozygous α0-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application%基于父源差异SNP位点的等位基因特异性实时荧光PCR方法建立及其在α0-地中海贫血无创产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    刘彦慧; 吴亚敏; 石少权; 娄季武; 马秋林; 何怡; 徐婉芳; 林洋洋; 周万军

    2012-01-01

    目的 建立并评价1种纯合α0-地中海贫血排除性无创产前诊断的等位基因特异性实时荧光PCR技术(AS-qPCR).方法 用PCR微测序技术,检测SEA高风险夫妇基因缺失区内9个SNP以确定双亲差异位点;然后以AS-qPCR技术检测孕妇血浆中父源差异SNP位点,判断父方是否将正常单倍型遗传给胎儿.结果 167个家系中,160个家系找到1个或多个有双亲差异的SNP位点,检测率为98.16%;94例检测到父源性正常等位基因SNP而免于创伤性产前诊断,检出率57.67%;所有家系的绒毛或羊水基因检测结果与本方法的符合率为100%.结论 采用AS-qPCR检测孕妇血浆游离DNA中双亲差异SNP位点的方法,在孕早期即可进行纯合α0-地中海贫血的排除性无创产前诊断,可使约50%高风险孕产妇免于创伤性产前诊断.%Objective To establish and evaluate an allele-specific real-time fluorescence PCR ( AS-qPCR) assay for non-invasive exclusive prenatal diagnosis of homozygous a -thalassemia. Methods Among 9 SNPs within the SEA deletion range, the different SNPs between parents were determined with PCR micro-sequencing technology. The paternal SNP was detected in maternal plasma DNA with AS-qPCR to determine whether the paternal normal haplotype had been inherited to the fetus. Results Among 167 families, 160 were found to have one or more parents-different SNPs with the detection rates over 98. 16%. The paternal normal SNPs were detected in 94 maternal plasma DNA. In this way, they avoided invasive prenatal diagnosis with a detection rate of 57.67%. These results were 100% coincidence with the results of CVS or amniocentesis. Conclusion Using AS-qPCR to detect the parents-difference SNPs in maternal plasma DNA in the early stage of gestation, is a non-invasive exclusive prenatal diagnosis of homozygous a?thalassemia. This method can make about 50% high-risk pregnant women to avoid invasive prenatal diagnosis.

  19. Familial adenomatous polyposis.

    Science.gov (United States)

    Half, Elizabeth; Bercovich, Dani; Rozen, Paul

    2009-01-01

    , clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program. PMID:19822006

  20. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling, and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome. Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform. Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.

  1. Prenatal diagnosis of oculocutaneous albinism type Ⅳ and discovery of a novel mutation%眼皮肤白化病Ⅳ型产前基因诊断及一种MATP基因新突变

    Institute of Scientific and Technical Information of China (English)

    逄婷; 雷洁; 郑辉; 徐蓓; 蒋玮莹; 李洪义

    2011-01-01

    Objective To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. Methods PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at midpregnancy. Results The three patients were all OCA4, whose genotypes were G349R/c. 870delC, G349R/P419L, G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation. Conclusion This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c. 870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.%目的 对3例眼皮肤白化病(oculocutaneous albinism,OCA)患儿进行分型诊断,并在此基础上开展OCA4产前基因诊断研究,为临床OCA遗传咨询和产前诊断提供指导.方法 应用聚合酶链反应及DNA序列测定技术,确定先证者及其父母的基因型后,取绒毛或羊水进行产前基因诊断.结果 3例患儿均为OCA4.家系1患儿母亲后来两次怀孕,第1次诊断为患儿,已选择流产,再次怀孕时诊断为父源G349R致病基因携带者.家系2产前诊断结果显示胎儿既未获得父源突变,也未获得母源突变.家系3产前诊断结果显示胎儿仅获得父源G349R突变.结论 检出MATP基因3种已报道的OCA4致病性突变G349R、D160H和P419L,发现1

  2. Rastreamento da síndrome de Down com uso de escore de múltiplos parâmetros ultra-sonográficos Ultrasound screening for Down syndrome using a multiparameter score

    Directory of Open Access Journals (Sweden)

    Victor Bunduki

    1998-10-01

    Full Text Available Objetivos: calcular a sensibilidade, especificidade e posteriormente os valores preditivos positivo e negativo dos escores ultra-sonográficos na síndrome de Down. Pacientes e Métodos: a sensibilidade e especificidade dos sinais ultra-sonográficos para a síndrome de Down foram calculadas por meio de escores em um estudo prospectivo realizado em população de alto risco para aneuploidia, entre a 16a e 24a semanas de gestação, que se mostrou desfavorável aos procedimentos invasivos após aconselhamento genético. Os sinais e os valores para a confecção dos escores foram: relação do comprimento do fêmur/pé 5 mm (2, diâmetro pielocalicial ³ 5 mm (1, ossos próprios do nariz Purpose: to calculate sensitivity, specificity and positive and negative predictive values for multiparameter ultrasound scores for Down's syndrome. Patients and Methods: sensitivity and specificity for Down syndrome were calculated for ultrasound scores in a prospective study of ultrasound signs from 16 to 24 weeks in a high-risk population who denied invasive procedures after genetic counselling. The signs and scores were: femur/foot length 5 mm (2, pyelocaliceal diameter > 5 mm (1, nasal bones < 6 mm (1, absent or hypoplastic fifth median phalanx (1 and major structural malformations (2. Complete follow-up was obtained in each case. Genetic amniocentesis was proposed in the case of score 2 or more. Results: a total of 963 patients were examined from October 93 to December 97 at a mean gestational age of 19.6 (range 16 -24 weeks. Women's age ranged from 35 to 47 years (mean 38.8 and 18 Down syndrome cases were observed (1.8%. Sensitivity was 94.5% (17/18 for score 1 and 73% (13/18 for score 2 (false positive rate of 9.8% for score 1 and 4.1% for score 2. Individual sign sensitivity and specificity were: femur/foot = 16.7% (3/18 and 96.8% (915/945; nasal bones = 22.2% (4/18 and 92.1% (870/945; nuchal fold = 44.4% (8/18 and 96.5% (912/945; pyelic diameter = 38

  3. 蛋白质组学在产前筛查与诊断中的应用%Application of Proteomic Technologies for Prenatal Screening and Diagnosis

    Institute of Scientific and Technical Information of China (English)

    王成东

    2013-01-01

    母血胎儿非整倍体筛查是减少和避免缺陷儿出生的有效手段,但其检出率和假阳性率有待进一步改善,以减少羊水穿刺等侵入性检查.以质谱为基础的蛋白质组学技术的蓬勃发展为该病相关标记物的发现提供了新的研究平台.通过对比正常与非整倍体胎儿母血蛋白质组的变化就能发现一个或一组候选标记物,有望改良目前的筛查方法或发展一种非侵袭性诊断方法.近年来,利用蛋白质组学技术筛选母血和羊水中胎儿非整倍体异常标记物的研究进展迅速,多数研究认为增加新的标记物能明显改善目前的常规筛查方法.然而,为了取得最大的临床诊断效能,应该选择一组潜在标记物在染色体正常与异常的妊娠妇女血液或羊水中进行大样本的对比分析.%Current screening for fetal aneuploidies relies mainly on biochemical markers from maternal blood to reduce the frequence of abnormal fetal,and the accuracy and false positive rate needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures,such as amniocentesis.Advances in technologies associated with mass spectrometry-based proteomic techniques have added a new research platform to the field of biomarker research.Comparisons of proteomes of normal fluids with those from aneuploidy pregnancies will allow for the identification of either one protein marker or a panel of candidate markers for prenatal screening of fetal aneuploidies that could be usefully employed for diagnostic purposes or improvement of the current screening methods.Proteomics-based indentification of biomarkers for fetal abnormalities in maternal plasma or amniotic fluid has made significant progress in the last several years.Many researches have demonstrated that discovery of additional markers via quantitative proteomic comparisons could drastically improve current conventional screening.However,for maximum diagnostic ability

  4. 「胚胎植入前基因診斷」之憲法問題Constitutional Issues of “Preimplantation Genetic Diagnosis”

    Directory of Open Access Journals (Sweden)

    陳仲妮 Chung-Ni Chen

    2009-12-01

    Full Text Available 為人父母即使不不奢求「望子成龍,望女成鳳」,至少也希望生下健康的下一代,特別是本身是重大遺傳性疾病的患者。這在過去,僅能藉由懷孕後的絨毛膜或羊膜穿刺等技術進行檢測。上世紀末,本世紀初以來,透過「胚胎植入前基因診斷」,讓「天擇」變成有「人擇」的可能。父母在胚植入子宮前,就可預先篩選「健康」的胚胎。從優生學的角度觀察,這無疑是一大福音;然若全面開放這種「扮演上帝」的技術,懷孕將如同在胚超級市場採購,甚至還有「訂製」的可能,更遑論將碰觸「人性尊嚴」、「生命權」及「生育自決權」等橫跨宗教、倫理、醫學及法律等領域,既嚴肅又難解的課題。對此,世界各國目前的態度不一。本文將從憲法的角度探討此議題,並提出個人淺見。 A healthy baby is not a granted wish for parents especially for those suffering from congenital/inherited disorders themselves. In the past, amniocentesis or chorionic villus sampling has been done at 16 wk- or 10 wk-fetus for prenatal diagnosis. From the end of last century to the beginning of this century, timing of performing this type of early diagnosis was pushed further forward by the development of “preimplantation genetic diagnosis (PGD”. This means that parents can choose “healthy” embryos even before they implanted into a uterus. From the view of eugenics, it is a big progress. However, if people abuse this new technology, it may lead to a horrifying situation: everybody can play God’s role – to choose or even order “desired” embryos which maybe healthier, with the right sex, or even with more pleasant or intelligent characters, instead of letting them go through “natural selection” process. Moreover, this human selection process would create unprecedented and very difficult ethical issues of human dignity, fetal rights to

  5. Prenatal diagnosis in 311 cases of mid-gestation women%311例孕中期羊膜腔穿刺产前诊断研究

    Institute of Scientific and Technical Information of China (English)

    李聪敏; 张华; 王艳丽; 焦倩谦; 郝戈芳

    2011-01-01

    目的 通过孕中期羊膜腔穿刺羊水染色体核型分析结果,探讨胎儿染色体异常的临床高危因素,提高临床医师对羊水染色体核型分析产前诊断指征的认识.方法 对311例孕16~28w有产前诊断指证的孕妇在B超定位下行羊膜腔穿刺术,抽取羊水进行培养、G显带染色及染色体核型分析.结果 共检出染色体核型异常13例,占4.18%.其中孕妇或丈夫为染色体异常者中5例(5/6),高龄孕妇(年龄≥35岁)中4例(4/161),有21-三体或18-三体生育史孕妇中1例(1/30),年龄<35岁,唐氏综合征血清学筛查高危孕妇中2例(2/87),畸形儿生育史孕妇中1例(1/1),单纯超声"软指标"及无产前诊断指征自愿要求孕妇中未检出染色体核型异常.结论 羊水染色体核型分析是诊断胎儿染色体病的有效手段.夫妇有一方为染色体异常、孕妇高龄、唐氏综合征血清学筛查高危、非整倍体儿及畸形儿生育史均为胎儿染色体异常的临床高危因素,应引起临床医师的高度重视.%Objective: By analizing karyotypo with amniotic cavity in mid- gestation women, to explore clinical risk factors of fetal chromosomal abnormalities and improve the understanding of clinical physicians to the prenatal diagnosis indication of karyotype analysis in amniotic fluid. Methods: 311 cases women with 16 ~ 30 pregnant weeks undergo amniocentesis monitored by B -orientation. extract amniotic fluid to culture, and performed the G - banding staining for karyotype analysis. Results: 13 cases of chromosomal abnormalities were diagnozied, accounting for4. 18%. Among them, 5 cases in pregnant woman or her spouse (5 / 6), 6 cases in advanced - age pregnant women (4 / 161 ), 1 case in the women with a reproductive history of 21 - or 18 trisomy ( 1 / 30),2 cases in women under 35 years old and with a history of high risk of Down syndrome (2 / 87 ), 1 case in women with a reproductive history of deformed children. No cases were

  6. 妊娠中期唐氏筛查在高龄孕妇产前诊断中必要性探讨%Approach the necessary of prenatal screening about down syndrome from of advanced materal age in pregnancy trimester

    Institute of Scientific and Technical Information of China (English)

    宋桂宁; 梁梅英; 张颜秋; 张璘; 徐红; 任梅宏

    2011-01-01

    Objective Approach the meaning of prenatal screening about down syndrome in prenatal diagnosis form pregnant women of advanced maternal age. Methods Amniocentesis were performed in 899 pregantwomen of advanced materal age with the indiations of prenatal diagnosis during 17-24 gestationalweeks and fetal chromom alkarynotypeswere examined in amniotic fluid.Results 6 abnomal chromosomal karyotypes were found in146 pregnantwomen with an increased risk of DS(≥1/270)(chose alpha-fetoprotein(AFP)and free E3 (uE3)and free β-hCG) .Patients with an increased risk of DS(≥1/270).(.Trisomy 21 was 4.11%(6/146 ) .12 abnomal chromosomal karyotypes were found in 753 pregnantwomen without prenatal screening.Trisomy 21 was 0.67%(5/750 ) .Conclusion It is higher effectiness among women of advanced maternal age about prenatal screening than without prenatal screening among women of advanced maternal age in pregnancy trimester.To suggest prenatal screening among women of advanced materal age in pregnancy trimester.%目的 探讨唐氏筛查在高龄孕妇产前诊断中的意义. 方法有产前诊断指征的高龄孕妇899人,孕中期17-24周行羊膜腔穿刺,取羊水检查胎儿染色体.结果 发现染色体异常6例在146例唐氏综合症筛查阳性(即孕妇血清甲胎蛋白(AFP)和游离性雌三醇(uE3)以及游离人绒毛膜促性腺激素(β-hCG)三联指标检测,将三联指标测定值输入唐氏综合征风险计算软件,以1/270为高危切割值,≥1/270确定为唐氏综合征筛查阳性)的高龄孕妇中,发现染色体异常6例唐氏综合征发生率为4.11%(6/146),高龄孕妇中未行唐氏筛查人数750人次,染色体异常人数12人,唐氏综合征发生率0.67%(5/750). 结论对高龄孕妇行孕中期血清血液筛查胎儿唐氏综合征,其筛查效率高于孕中期未行血清血液筛查的高龄孕妇,建议对高龄孕妇行孕中期胎儿唐氏综合征产前筛查.

  7. Toward a reconceptualization of "choice": challenges by women at the margins.

    Science.gov (United States)

    Luthra, R

    1993-01-01

    It has been suggested that recent first world and third world feminist movements have gained impetus from a shared emphasis on "body politics" (abortion, rape, and domestic violence). It has been made clear by other writers, however, that first and third world women (including women of color in the first world) have very different conceptions of which policies and practices should be pursued to change their reproduction experiences (because the overriding experiences of their entire lives are so very different). Likewise, the concept of "the right to choose" has been challenged on the grounds that it ignores the external conditions (such as economics) which, in fact, dictate "choice." Eugenics also influences which "choices" are promoted among populations considered "undesirable." The dilemmas associated with reproductive choices are further highlighted by debate about the use of amniocentesis in India for sex determination and female feticide. At the center of this debate is whether calling for a ban on this practice would support or violate a woman's choice. The rhetoric of choice arose in the first place because women who wanted to end a pregnancy had "no choice" but to seek illegal abortions. However, working class women and Black women in the US object to the narrowness in the abortion rights agenda dictated by the use of this term. To assert women's "choice" absolves all others of the responsibility for a pregnancy. The "choice" concept is also vulnerable to political manipulation. "Choice" also evades ethical problems such as sex selection. Disabled feminists have also pointed out that it is as important to create conditions which include "the choice to have a disabled child" as it is to choose not to be a mother. Can feminists oppose the selective abortion of female fetuses while leaving the choice to abort a defective or unwanted fetus of either sex up to the mother? Objection to sex determination can be categorized as consequentialist (based on various

  8. The analysis of drug use in induction of scar uterine mid pregnancy%瘢痕子宫中期引产用药分析

    Institute of Scientific and Technical Information of China (English)

    王磊娜

    2014-01-01

    Objective:To investigate the effect of mifepristone combined with ethacridine lactate and carboprost methylate suppositorites in terminating scar uterine mid pregnancy.Methods:215 cases with scar uterine pregnancy 20~27 weeks were selected.They were randomly divided into the study group with 110 cases and the control group with 105 cases.The study group were given oral mifepristone 25mg,injection of rivanol 100mg by transabdominal amniocentesis after taking 150mg medication, anal saika forefront of methyl suppository after delivery.The control group were only given injection of ethacridine 100 mg abdominal amniotic cavity and intramuscular injection of oxytocin after delivery. Observe the time from givening medication to embryo placental delivery,placental delivery time,amount of bleeding at 2 hours and 24 hours after delivery of two groups.Results:There was no statistically difference in the success rate of induced labor of two groups (P>0.05).The time from givening medication to embryo placental delivery,placental delivery time,amount of bleeding at 2 hours and 24 hours after delivery of the study group were better than that of the control group.The difference was statistically significant(P<0.05).Conclusion:Using of mifepristone combined with ethacridine lactate and carboprost methylate suppositorites in mid-term pregnancy uterine scar induced labor was safe and effective,after exclusion of medication contraindications.%目的:探索米非司酮联合依沙吖啶及卡前列甲酯栓终止妊娠中期瘢痕子宫的效果。方法:选择瘢痕子宫再次妊娠20~27周215例,随机分为研究组110例和对照组105例。研究组口服米非司酮25mg,服药150mg后经腹羊膜腔注入依沙吖啶100mg,产后肛塞卡前列甲酯栓;对照组单用依沙吖啶100 mg 经腹羊膜腔注入,产后肌注缩宫素。观察两组患者用药至胚胎娩出时间、胎盘娩出时间、产后2小时出血量及产后24小时出血量。结果:两

  9. Clinical analysis of 35 congenital cystic adenomatoid malformation (CCAM) of the lung in fetal%胎儿先天性肺囊性腺瘤样畸形35例临床分析

    Institute of Scientific and Technical Information of China (English)

    张莺; 康媛; 李笑天

    2012-01-01

    Objective To investigate the clinical feature and prognosis of congenital cystic adenomatoid malformation ( CCAM) of the lung in fetal. Methods From February 2004 to July 2009,35 fetuses diagnosed with CCAM by prenatal-ly ultrasonic examinations in Obstetrics and Gynecology Hospital Affiliated to Fudan University were analyzed retrospectively. Ultrasound monitored the changes of the lesion size and the complications. Results The ultrasonic examination indicated that IS of 35 cases were classified as type I , 11 as type Ⅱ ,8 as type Ⅲ and 1 was type I combined with type Ⅲ. 14 cases were accompanied with mediastinal or heart shifting, 3 cases with polyhydramnios, 3 cases with the thickening of nuchal translucency, 1 case with hydrocephalus,2 cases with fetal growth retardation, 1 case with fetal hydrops and ascites, 1 case with polyhydramnios and digestive systerm malformation. 7 of 35 cases underwent amniocentesis and all of the chromosomal karyotype were normal. 8 cases could not be continued to follow up after the first ultrasonic examination. In the follow-up group, one fetus with hydrops and ascites died intrauterine at 29 weeks, 11 women terminated their pregnancies, 15 cases delievered. Of 15 infants, lesions of 6 cases disappeared at pregnancy, 4 cases disappeared postnatal-ly, lesions of 2 cases still existed, 3 cases were not followed up. 15 infants were healthy. Conclusion Fetal hydrops and ascites are the unfavourable factors for the CCAM prognosis. If fetuses are not complicated with hydrops, ascites and other malformations, the prognosis of CCAM is good, these women should be advised to continue their pregnancies.%目的 探讨胎儿先天性肺囊性腺瘤样畸形( CCAM)的临床特点和预后.方法 回顾性分析2004年2月至2009年7月在复旦大学附属妇产科医院经产前超声诊断为CCAM的35例胎儿的临床资料.超声监测CCAM病灶大小及并发症的变化.结果 超声检查提示:Ⅰ型15例,Ⅱ型11例,Ⅲ型8

  10. 2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis%2475例胎儿染色体核型检测及产前诊断指征分析

    Institute of Scientific and Technical Information of China (English)

    陈桂兰; 唐芳; 屈艳霞; 唐盈; 卢航; 江帆; 黄丽娟; 吴伟雄

    2015-01-01

    目的:通过分析广州市出生缺陷干预工程中产前筛查高危孕妇的染色体核型及产前诊断指征,探讨广州市高危孕妇的胎儿常见异常核型、产前诊断指征以及妊娠结局。方法对2010年1月至2012年9月通过该所转诊的2475例产前筛查高风险的孕妇进行羊膜腔或脐静脉血穿刺,细胞培养及染色体制片,G 显带分析,产后随访。结果检测出染色体异常38例(21-三体12例,性染色体异常9例,平衡易位7例,18-三体 5例,倒位 2例,缺失 2例,三倍体1 例),异常率为1.54%;检测出染色体多态132例[1,9,16qh+60例,Inv(9)30例,D/Gs+25例,Y 多态17例]。进行产前诊断的指征中,唐氏血清学筛查高风险因素668例、高龄因素449例、B 超筛查异常因素158例、不良孕产史因素38例。结论21-三体是本文比例最高的异常核型,唐氏血清学筛查高风险是最主要的产前诊断原因,对高危孕妇行胎儿染色体核型分析检测和系统 B 超排畸筛查均至关重要。%Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced

  11. Analysis of Prenatal diagnosis results of trisomy 18 fetus%18-三体综合征胎儿的产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    韩瑾; 何平; 廖灿; 张蒙; 甄理; 杨昕; 潘敏; 李东至; 易翠兴; 袁思敏; 钟慧珠

    2016-01-01

    Objective To assess clinical application of prenatal diagnosis in trisomy 18 during pregnancy.Methods A total of 13 354 cases received invasive prenatal diagnosis at Prenatal Diagnosis Center,Guangzhou Woman and Children′s Medical Center between January 2010 and August 2014. Among them, 95 fetus were diagnosed as trisomy 18.Three prenatal diagnostic methods included chorionic villi biopsy (1 1-13 +6 gestational weeks),amniocentesis (1 6-24 gestational weeks)and percutaneous puncture of umbilical cord (> 24 gestational weeks).The indications of prenatal diagnosis, abnormal karyotype of chromosome of fetus, and ultrasonic abnormal manifestations of 95 cases with trisomy 18 were analyzed.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Guangzhou Woman and Children′s Medical Center.Informed consent was obtained from each participates.Results ① Indications:46 cases (48.5%)of 95 cases were high risk in the first trimester screening,47 cases (48.4%)were high risk in the second and third trimester,the remaining 2 cases of indications were high risk in non-invasive prenatal test (NIPT)and carriers ofα-thalassemia.Furthermore,among 95 cases with trisomy 18,33 pregnant women underwent chorionic villi biopsy, 46 underwent amniocentesis, and other 1 6 underwent percutaneous puncture of umbrlical cord.② Chromosome karyotypes:except of 91 cases (95.8%)simple karyotype of trisomy 18,4 cases (4.2%)were chromosome mosaic.Among them, 2 cases of mosaic ratio than 20% were found structure abnormalities in the first trimester screening. One in 1 1.0% was high risk in the second trimester screening.One in 8.0% had no findings in the first and second trimester screening,while had fetal growth restriction (FGR)in the third trimester.③ The main ultrasound findings in the first trimester of 38 cases (82.6%)were nuchal translucency (NT)thickening,nasal bone absence or hypoplasia,cystic hygroma,omphalocele and anencephaly, another 40

  12. 1075例产前诊断中32例染色体异常胎儿预后分析%The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    覃婷; 田矛; 莫伟英; 施月秋

    2011-01-01

    目的 探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型.结果 总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%.其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位.46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征.46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人.47,XXY 1例,产前诊断指征为胎儿双肾盂分离.唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人.47,XYY 2例,产前诊断指征为唐氏征高危1人,高龄1人.47,XXY/46,XX 1例,产前诊断指征为唐氏征高危.18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人.结论 夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样.唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇.孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷.%Objective:To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis, and fetal prognosis. Methods: To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004 - August 2009. Results:In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2. 97%. There was one case of 45 ,XY,t(21 ;14) ,two cases of both fetuses of 46,XX,22

  13. 基于 Ion Proton 半导体测序平台的无创产前基因检测技术的可行性研究%The feasibility study of Ion Proton semiconductor sequencing platform in the non-invasive prenatal genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    张展; 齐佳会; 刘丽莎; 张琳琳; 贾莉婷; 李莹; 赵小辰; 杜尚珂; 于海洋; 张志英

    2014-01-01

    Objective To evaluate the feasibility of apply Ion Proton semiconductor sequencing platform in non-invasive prenatal genetic diagnosis .Methods Totally 1 000 pregnant women with a singleton pregnancy of 12-32 weeks gestation were selected from the Third affiliated Hospital of Zhengzhou University from Jan to Dec 2013.Using noninvasive prenatal genetic diagnosis based on Ion Proton semiconductor sequencing platform to study their cffDNA .In parallel, 72 pregnant women received invasive prenatal diagnosis by traditional chromosomal analysis with amniocentesis chorionic villus sampling .Results It′s shown that 18 out of 1 000 (1.8%) pregnant women underwent the noninvasive prenatal genetic testing had a high risk for aneuploid chromosomes , including 7 cases of 21-trisomy, 4 cases of 18-trisomy, 2 cases of 13-trisomy, 4 cases of sex chromosomal abnormality , and 1 case of 15-trisomy.It demonstrated that the rate and accuracy of fetal 21-trisomy, 13-trisomy and 18-trisomy by non-invasive prenatal genetic testing were both 100%without misdiagnosis , the rate of detection for sex chromosomal abnormality was 2/2 with a false positive rate of 1/3.However, the 15-trisomy predicted by the non-invasive prenatal diagnosis in a woman was finally proved to be a false positive .Based on the results by karyotyping (55/55) as well as follow-ups (493/493), the specificity of the non-invasive prenatal diagnosis for detection of 21-trisomy, 18-trisomy and 13-trisomy was 100%.One Ion PITM chip could detect 12 to 15 samples in 1.5 h and the whole process of noninvasive detection could be completed in 1 to 1.5 days.Conclusions The non-invasive prenatal diagnosis by Ion Proton semiconductor sequencing platform could provide fast and accurate detection of fetal aneuploidy .The benchtop high-throughput sequencing platform has laid the foundation for the independent application in clinical settings for fetal aneuploidy detection .%目的:探讨基于Ion Proton半导体测序平台的

  14. Value of second trimester serological screening of Down syndrome in pregnant women with advanced age%中孕期唐氏综合征血清学筛查在高龄孕妇中的应用价值探讨

    Institute of Scientific and Technical Information of China (English)

    刘春燕; 何斌; 韩代文; 刘之英; 赖怡; 秦利; 袁粒星; 刘珊玲; 王和

    2016-01-01

    ).From January to December 2012,a total of 10 881 cases of young pregnant women (expected age of delivery0.05).Results ①Among 1 571 cases of pregnant women in advanced age group,121 cases were in high-risk of DS serological screening,and 4 cases were diagnosed as DS;1 450 cases were in low-risk of DS serological screening,and no fetal DS was found.Among 10 881 cases of pregnant women in young group,759 cases were in high-risk of DS serological screening,and 6 cases were diagnosed as DS;10 122 cases were in low-risk of DS serological screening,and 1 case were diagnosed as DS postnatally.② In advanced age group,the false positive rate of DS serological screening was 7.4% (1 1 7/1 571),the young group was 6.9% (753/10 881),and the difference was not statistically significant (χ2 = 0.587,P = 0.444 ).③ In advanced age group,DS serological screening efficiency was 3.3% (4/121 ),which was significantly higher than that of young group (0.8%, 6/759 ), and the difference was statistically significant (χ2 = 3.870, P = 0.049 ). Conclusions The three-marker (β-hCG,AFP and uE3 )test is an effective screen strategy for second trimester serological screening of DS in pregnant women with advanced age.It can reduce the rate of genetic amniocentesis.

  15. 广西地区15413例产前诊断中异常核型的分析性研究%Abnormal Karyotypes in 15 413 Cases with Prenatal Diagnosis in Guangxi Province, China:a Retrospective Study

    Institute of Scientific and Technical Information of China (English)

    黄红倩; 李萌; 费冬梅; 刘天盛; 张海燕; 陈秋莉; 欧阳鲁平; 刘孙荣

    2013-01-01

    Objective: To analyze retrospectively the abnormal karyotypes, and the indications of prenatal diagnosis, and to follow-up survey those fetuses with abnormal karyotypes, so as to provide references for genetic counseling. Methods: Chromosomal karyotype analysis was performed in 15 413 cases with the indications of prenatal diagnosis, using fetal samples by amniocentesis or umbilical cord puncture with the informed consent. Total 220 pairs with abnormal karyotype fetuses were surveyed follow-up by phone, and their child were checked chromosomal karyotypes using peripheral blood samples. Results: Total success rate of cell culture was 99.6%(15 349/15 413), including 99.76%(11 299/11 326) in amniotic fluid samples and 99.1%(4 050/4 087) in umbilical cord blood samples. The rate of chromosomal abnormalities was 11.20%(1 719/15 349), including 8.70% (1 335/15 349) normal polymorphism, 1.72% (264/15 349) abnormal number of chromosomes and 0.79% (121/15 349) structural abnormalities of chromosomes. Classified according to the indications of prenatal diagnosis, the rates of chromosomal abnormalities were as follows, 10.67% (879/8 236) Down′s syndrome, 9.76% (128/1 312) elderly pregnant women, 12.27%(138/1 125) history of adverse pregnancy, 11.40%(124/1 087) abnormality found by B-ultrasound, 23.91%(132/552) abortion due to fetal malformation. In those chromosomal abnormalities, 108 abnormal karyotypes were from mothers, 69 from fathers, 43 from spontaneous abnormalities. Conclusions: The prenatal diagnosis and chromosomal analysis in those high-risk pregnant women are helpful to reduce birth defects.%目的:分析产前诊断中异常核型与指征的关系及异常核型胎儿的调查随访,为遗传咨询提供可靠的依据。方法:对15413例具有产前诊断指征的妊娠妇女在知情同意的情况下,经B型超声引导行羊膜腔穿刺或脐带血穿刺,经培养处理后进行染色体核型分析。有220对胎儿核型异常的父母在知

  16. Avaliação da maturidade pulmonar fetal pela contagem dos corpos lamelares no líquido amniótico Evaluation of fetal lung maturity by lamellar bodies counting in amniotic fluid

    Directory of Open Access Journals (Sweden)

    Beatriz Maykot Kuerten Gil

    2010-03-01

    Full Text Available OBJETIVO: comparar o teste de contagem de corpos lamelares (CCL no líquido amniótico com o teste da polarização fluorescente (PF como parâmetro diagnóstico para avaliação da maturidade pulmonar fetal. MÉTODO: estudo transversal, analítico e controlado realizado com 60 gestantes atendidas no período de março de 2002 a dezembro de 2007. Foram colhidas amostras de líquido amniótico e realizados os testes de CCL e PF (TDxFLM II, considerados de referência, e comparados à presença ou ausência da Síndrome do Desconforto Respiratório (SDR. Foram estabelecidos valores de corte para maturidade de 30 mil corpos lamelares/µL para o teste da CCL e 55 mg/g de albumina para o PF. Foram avaliadas as características maternas e perinatais, a evolução neonatal e o desempenho dos testes diagnósticos para predição da maturidade pulmonar fetal. Na análise estatística, foram utilizadas medidas descritivas e calculados os valores referentes à sensibilidade, especificidade, valor preditivo positivo e negativo dos testes, considerando-se significativos valores de pPURPOSE: to compare the lamellar body number density (LBND count in amniotic fluid using the fluorescent polarization (FP test as a diagnostic parameter for the assessment of fetal pulmonary maturity. METHOD: this was an analytical, controlled cross-sectional study conducted on 60 pregnant women from March 2002 to December 2007. Amniotic fluid specimens were obtained by amniocentesis or at the time of caesarean section, and submitted to the LBND and FP tests (TDxFLM®, Abbott Laboratories, the latter considered to be a reference test, and compared in terms of the presence or absence of respiratory distress syndrome (RDS. Cut-off values for maturity were established at 30,000 lamellar bodies/µL for the LBND test and 55 mg/g albumin for the FP test. Maternal and perinatal characteristics and neonatal evolution were evaluated, and the performance of the diagnostic tests regarding

  17. 34例系统性红斑狼疮患者行中期引产术临床分析%Analysis of Mid-trimester Termination of Pregnancy in 34 Women with Systemic Lupus Erythematosus

    Institute of Scientific and Technical Information of China (English)

    陈蔚琳; 金力; 刘欣燕; 彭萍

    2013-01-01

    .The abortion methods included:3 cases with dilatation and evacuation in 12-16 weeks of pregnancy;Two cases with medical procedures with mifepristone plus misoprostol; Twenty-five cases with amniocentesis after injection of ethacridine into amniotic sac in 17-28 weeks of pregnancy;Four cases with cesarean section.There are no difference between two groups in pregnant week and method of abortion.Lupus flares during pregnancy of the inevitable group (16/19) was more than that of the evitable group(6/15,P<0.05).One massive hemorrhage happened in the dilatation and evacuation.There were no more complications.Conclusious:The midtrimester induced abortion was safe for SLE women under SLE well-controlled,but the operation should be valued as high risk.Those SLE patients should be given timely and accurate family planning guidance in case of those concomitant risks during unintended pregnancy.

  18. 妊娠中期血清标记物检测在唐氏综合症产前筛查中的探讨%To investigate the serum marker pregnancy detection in prenatal screening for Down syndrome

    Institute of Scientific and Technical Information of China (English)

    袁晃堆

    2015-01-01

    Objective:To study the analysis of second trimester maternal serum marker for prenatal screening of Down's syndrome and the significance. Methods:The selection of 2012.10-2013.10 in our hospital during the application of resolution immunofluorescence assay was used to detect 2468 cases of 15-20+6 weeks pregnant women were detected serum Free-, P-HCG, AFP markers and content, combined with maternal age, gestational weeks, single twins, smoking history, body mass, whether patients with diabetes, previous factors without abnormal pregnancy history, the use of Life Cycle 3 version of the system risk assessment.Results:The 2468 cases of pregnant women, screening out the abnormal chromosome 138 cases of pregnant women with high risk pregnancy, including 34 cases of pregnant women were amniocentesis antenatal examination, diagnosis of Down syndrome (English referred to as DS) in 8 cases, 1 cases of trisomy 18-syndrome, 4 cases of other fetal chromosomal abnormalities. DS maternal fetal blood AFP, free three female alcohol content was significantly lower than that in normal pregnant women;Free-beta-HCG was significantly higher than that of normal pregnant women, the difference was statistical y significant P<0.05. Trisomy 18-fetal maternal blood AFP, free three female alcohol, Free-beta-HCG was obviously lower than that of normal pregnant women, the difference was statistical y significant P<0.05. Conclusions:The second trimester serum marker examination can be used as an important index prediction of fetal chromosomal abnormalities, and take effective measures in a timely manner through the prenatal diagnosis, can significantly reduce the birth defects, to help students work.%目的:研究分析妊娠中期血清标记物在产前筛查唐氏综合症的意义。方法:择取2012.10-2013.10期间在我院应用实践分辨免疫荧光法检测的2468例孕15-20+6周的孕妇,均进行血清Free-β-HCG、AFP标记物含量检测,并结合孕妇的年龄、孕周

  19. 高龄孕妇应用快速产前诊断方法的可行性%Feasibility of rapid prenatal diagnosis in advanced maternal age women

    Institute of Scientific and Technical Information of China (English)

    马京梅; 潘虹; 付杰; 于丽; 王玲; 杨慧霞

    2014-01-01

    Objective To analyze the feasibility of rapid prenatal diagnosis in the advanced maternal age women with or without positive serologic screening results.Methods We conducted a retrospective study of the women who underwent a mid-trimester amniocentesis in Peking University First Hospital from January 1,2001 to December 31,2012.Maternal age,indication for invasive prenatal diagnosis,karyotyping and pregnancy outcome were documented.Using a young population with high risk in serologic screening (S) as the standard,chromosome abnormalities in the advanced maternal age (A) group and the advanced maternal age with high risk in serologic screening (A+S) group were compared with the S group.Chromosome abnormalities were divided into detectable (D) and undetectable (U) during rapid prenatal diagnosis.Results Of 9 606 cases,222 (2.3%,222/9 606) cases with chromosome abnormalities were detected,23.0% (51/222) of which were undetectable by rapid prenatal diagnosis.The detection rate of detectable chromosome abnormalities was 1.8% (57/3 177) in group A,1.4%(13/925) in group A+S,and 1.8%(57/3 250) in group S (x2=0.662,P>0.05).The rate of undetectable chromosome abnormalities was 0.5% (15/3 177) in group A,0.3% (3/925) in group A+S,and 0.5% (16/3 250) in group S (x2=0.452,P>0.05).The most common indications for undetectable chromosome abnormalities in the young population were abnormal history of pregnancy,abnormal family history and chromosome abnormality history (16.4%,9/55),and abnormal ultrasound in the advanced maternal age population (4.4%,3/68).Conclusions The performance of rapid prenatal diagnosis in the advanced maternal age population with or without high risk in screening without abnormal findings in ultrasound,was similar to the young population with high risk in screening.Fluorescent in situ hybridization may be integrated into the strategy of prenatal diagnosis for this group of women.%目的 探讨在单纯高龄或高龄合并血清学

  20. Concentrations of cytokines in the mid-trimester amniotic fluid of normal pregnancy%正常妊娠中期羊水细胞因子水平分析

    Institute of Scientific and Technical Information of China (English)

    刘乐南; 冯振华; 李洁; 戴毅敏; 朱海燕; 许碧云; 周乙华; 胡娅莉

    2014-01-01

    Objective The concentration of cytokines in the amniotic fluid ( AF) may reflect the immune state of maternal-fetal interface .This study aimed to investigate the level of inflammation -related cytokines in the mid-trimester AF of normal pregnant women. Methods This study included 263 pregnant women undergoing mid-trimester genetic amniocentesis , and all of them had normal pregnancy outcomes .Using MILLIPLEX MAP and Luminex, we measured the concentrations of interleukin IL-10, IL-1β, IL-6, monocyte chemotactic MCP-1, and tumor necrosis factor TNF-αin the AF collected from the women at 18-22 +6 weeks′gesta-tion.We analyzed the correlation of their concentrations with maternal age , gestational age , and fetal gender by rank sum test . Results The median concentrations of IL-10, IL-1β, IL-6, MCP-1, and TNF-αin AF at mid-trimester were 7.91, 0.97, 78.15, 1 135.57, and 8.47 pg/mL, respectively.The levels of IL-10 and IL-1βwere higher in the pregnancies with male fetuses than in those with female fetuses (8.54 and 1.18 pg/mL vs 7.72 and 0.85 pg/mL, P=0.043 and 0.008).Maternal age or gestational week at the mid-trimester exhibited no influence on the concentrations of the 5 cytokines. Conclusion The levels of IL-10, IL-1β, IL-6, MCP-1 and TNF-αremain stable in AF at mid-trimester and the former 2 are higher in pregnancies with male fetuses .%目的:人类妊娠过程中,羊水中细胞因子浓度可反映母胎界面炎症免疫状态。文中旨在了解正常孕妇中孕期羊水中炎症相关细胞因子的水平以反映正常妊娠中期母胎界面炎症免疫状态。方法研究263名孕妇妊娠中期(18~22+6周)因产前诊断行羊膜腔穿刺采集的羊水,随访证实最终妊娠结局正常。用高灵敏MILLIPLEX MAP试剂及Luminex仪检测羊水中白细胞介素(interleukin, IL)-10、IL-1β、IL -6、单核细胞趋化蛋白(monocyte chemotactic protein, MCP)-1和肿瘤坏死因子( tumor necrosis factor , TNF

  1. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

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    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  2. 无创产前基因测序在胎儿染色体非整倍体基因检测中的临床应用%The application of non-invasive prenatal genetic sequencing for fetal chromosomal aneuploidy

    Institute of Scientific and Technical Information of China (English)

    翁慧男; 梁嘉颖; 曾伟宏; 汤惠霞; 孙怡; 马将军

    2015-01-01

    1 to January 2013 were selected.Inclusion criteria:advanced age,prenatal screening for high risk,and fetal abnormality indicated by color ultrasonography,agreeing with non-invasive prenatal genetic testing.After non-invasive prenatal genetic testing, the pregnant women with positive result underwent cell culture and chromosomal karyotyping.Following the situations after deliv-ery were designed as the final criteria for definite diagnosis of fetal chromosomal aneuploidy.Results A total of 1 865 pregnant women underwent non-invasive prenatal genetic testing,of which 21 pregnant women were found with positive result,including 14 pregnant women with trisomy 21,5 pregnant women with trisomy 18,2 pregnant women with trisomy 13.The results of chromo-somal karyotyping after amniocentesis or umbilical cord blood puncture were designed as golden standard.Among the women with trisomy 21,one woman refused the prenatal diagnosis,self induced labor and could not be confirmed karyotype.No false positive case was found among the women with trisomy 18 and 13.No missed diagnosis was found among the pregnant women with negative result during follow-up after delivery.Through statistical analysis of non-invasive prenatal fetal genetic testing,the sensitivity for the trisomy 21 was 100%,and the accuracy was 92.9%.The sensitivity and accuracy for the trisomy 18 and 13 were 100%.Conclu-sion Non-invasive prenatal genetic testing can improve the diagnostic efficacy before delivery,reduce the birth of ill infants,and it is a quick,safe,easy-accepted and reliable prenatal diagnostic method,which is worthy to be popularized and an inexorable trend of development in the future.

  3. 软骨发育不全家系产前诊断与基因突变分析%Prenatal diagnosis and mutation analysis of fibroblast growth factor receptor 3 gene in achondroplasia

    Institute of Scientific and Technical Information of China (English)

    郝胜菊; 闫有圣; 李静; 郑雷; 张钏; 梁济慈; 陈雪

    2016-01-01

    Objective To explore the value of prenatal genetical diagnosis by mutation analysis of achondroplasia (ACH) fibroblast growth factor receptor 3 (FGFR3) gene.Methods Genomic DNA from nine ACH patients and their parents in Gansu Maternal and Child Health Hospital from July,2010 to December,2014 was prepared for polymerase chain reaction.Direct sequencing revealed the samples were performed after amplification of exon 10 of FGFR3 containing the potential mutation.Fetal DNA was extracted from cells in both amniotic fluid and umbilical cord,and then exon 10 of FGFR3 was also tested.Three fetuses with short-limb dysplasia were also included and prenatal diagnosis was offered to them through amniocentesis or cordocentesis.Results Prenatal ultrasonography test showed shorter femoral length,which was less than 2-3 standard deviation of normal reference dysplasia fetal performance for femoral short.Femur length is lower than 2-3 standard deviation minus normal value,and discrepancy in biparietal diameter compared with fetuses at the same gestational age.In the four families with one ACH parent,c.1138G > A heterozygous mutation was detected in all of the four mothers,while two fetuses among them showed c.1138G > A heterozygous mutation mutation and the other two were normal.There were other two fetuses with c.1138G > A heterozygous mutation from other two families,one's father had c.1138G > A heterozygous mutations,but not the mother,the other had c.1138G > A heterozygous mutations in both the mother and father.Among the three families with unaffected parents but each had a de novo c.1138G > A mutation child,no mutation of c.1138G > A genotype was detected in their fetuses,neither in the three fetus with short limb dysplasia.Four fetuses with a c.1138G > A mutation and three with short-limb dysplasia were terminated.The other five fetuses whose genotype was normal were born and healthy with normal phenotype at one-year-old follow-up.Conclusion FGFR3 genetic

  4. Avaliação da maturidade pulmonar fetal em gestações de alto risco Prenatal diagnosis of fetal lung maturity in high-risk pregnancies

    Directory of Open Access Journals (Sweden)

    Wladimir Taborda

    1998-07-01

    in 121 consecutive high-risk gestations at the São Paulo Hospital from January 1990 to January 1995. Delivery occurred within 3 days of fetal lung maturation testing. This is a prospective study in which the sensitivity, specificity, positive (PPV and negative predictive value (NPV of all the tests were determined. Neonatal respiratory outcome and amniocentesis results were stratified by gestational age for comparison. The distribution of the studied population according to maternal pathology was diabetes mellitus (48, hypertensive disorders (41, Rh isoimmunization (14 and miscellaneous (18. Respiratory distress (RD was present in 33 infants (27.2%, mainly in the diabetic group. There was no false negative using lung profile (all patients and foam stability tests among hypertensive pregnancies (specificity 100%, but there were about 20% to 50% false positives in the other tests. Overall, all four tests had a low PPV: 23% for foam test, 51% for L/S ratio, 63% for PG, 61% for lung profile, and high NPV: 92% for foam test, 88% for L/S ratio, 89% for PG and 100% for lung profile. All tests had less accuracy in the diabetic pregnant women. This study shows that the presence of PG and L/S ratio > 1.7 in the amniotic fluid of high-risk pregnancies confirms maturity with a very low risk to develop RD and that the foam stability test was useful as a first-line test to predict the absence of surfactant-deficient respiratory distress syndrome, particularly in hypertensive pregnant women.

  5. Efficiency of introduction of medical technologies on rendering medical care to population of the Gomel area suffering from Chernobyl accident

    International Nuclear Information System (INIS)

    The main task of the medico-genetic Centre is the reduction of frequency of heritable and congenital pathology. With this purpose, the complex programme of prenatal diagnostic of congenital and heritable pathology of a fetus is implemented, which allows annually to detect and induce prematurely more than 100 pregnancies with non-curable forms of congenital defects of a fetus. The following has been developed and introduced in the Centre: the program of mass ultrasonic screening of pregnant women in the 1st and 2nd trimester for detection of congenital defects of the fetus; the program of two-parameter screening of pregnant women in the 1st trimester of the pregnancy, focused mainly at prenatal diagnostic of Down's syndrome; the prenatal karyotyping of the fetus in the 1st and 2nd trimesters of pregnancy by all methods (villous chorion biopsy, amniocentesis, placentocentesis, cordocentesis) is introduced; It allows to detect prematurely up to 32 % of all cases of congenital heart diseases and up to 53 % of all cases of Down's syndrome (average republican indicator of the latter - 32,6 %). The Gomel medico-genetic Centre performs monitoring of congenital defects in the region to develop the Republican register of congenital defects of development. The indicator of infantile death rate for 5 years has decreased from 15,2 per 1,000 newborn in 1998 to 9,0 per 1,000 newborn in 2002. The indicator of primary morbidity of children for the last years has been stabilized and made in 2002 135,342 per 100,000 children (in this Republic - 141,050 per 100,000 children). In Gomel region, among medical consequences of the Chernobyl catastrophe, the growth of thyroid gland pathology is to be marked. In the structure of diseases of thyroid gland, endemic goiter is the main. Of special attention is the increase of nodular goiter cases. The appearance of nodular goiter in the period 1987 - 2001 increased in 7,5 times. The nodular goiter cases in children below 14 in 1986

  6. Down analysis of 7859 cases of second trimester screening and prenatal diagnosis in Huaihua Region%怀化地区7859例孕中期唐氏筛查和产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    唐勇; 冯宗辉; 向文秀; 李金英

    2011-01-01

    目的 探讨孕中期唐氏筛查和产前诊断对检出胎儿染色体异常和妊娠不良结局的临床价值.方法 应用时间分辨荧光免疫法对7859例孕中期(14-20周)妇女进行血清标记物三联方案(hAFP+free-β-hCG+uE3)检测.筛查结果应用Muhical软件计算21三体、18三体综合征和开放性神经管畸形的风险(rish)概率.对于高风险孕妇经遗传咨询,知情同意,自愿选择行产前诊断,于孕18-24周左右在超声引导下进行羊膜腔穿刺,抽取羊水培养进行胎儿染色体核型分析.并继续追踪胎儿和孕妇情况.结果 在7859例孕妇中,筛查到高风险732例,唐氏筛查阳性率为7.65%(601/7859).其中367例接受羊水或脐血穿刺产前诊断,占筛查高风险孕妇的50.13%(367/732);发现胎儿染色体异常16例,异常检出率4.36(16/367),其中6例唐氏综合征、5例18-三体综合征、4例Turner's综合征、1例9号染色体臂间倒位.唐氏筛查高风险和低风险组不良妊娠结局分别为6.15%和1.46%,呈显著性差异(<0.05).结论 孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标.结合羊水培养或脐血培养等产前诊断技术和方法,对预防先天缺陷儿出生、提高人口素质有重要临床应用价值.%Objective: To investigate the second trimester prenatal diagnosis of Down's screening and detection of fetal chromosomal abnormalities and the clinical value of adverse outcomes of pregnancy. Methods; The time-resolved fluorescence immunoassay 7, 859 cases of second trimester (14-20 weeks) women with serum markers triple regimen (hAFP + free - β - hCG + uE3) detection. Application software to calculate screening results Multical trisomy 21, trisomy 18 syndrome and open neural tube defects risk (rish) probability. For high-risk pregnant women by genetic counseling, informed consent, voluntarily choose to prenatal diagnosis, the pregnancy at 18 -24 weeks amniocentesis under ultrasound guidance, taking

  7. Isolation and characterization of amniotic fluid-derived stem cells in Turner’s syndrome%Turner综合征羊水干细胞的分离及特征*★◆

    Institute of Scientific and Technical Information of China (English)

    龚余; 骆玉梅; 田霖; 刘海波; 陈欣洁; 孙筱放; 陈耀勇

    2013-01-01

      背景:羊水干细胞的分离培养及生物学特性相关研究取得了明显进展,但未见45,X/46,XX(Turner综合征)羊水细胞建系的报道。目的:建立体外培养人羊水来源干细胞的方法,初步探讨羊水干细胞的生物学特性。方法:孕中期羊膜腔穿刺获得1例染色体核型异常(45,X/46,XX)羊水标本,采用梯度稀释后低密度种植的方法获得羊水干细胞,体外传代培养,倒置显微镜观察细胞的贴壁生长情况,细胞染色体检查确认核型,流式细胞仪检测羊水干细胞特异性表面标志和细胞周期,进行成骨诱导分化及碱性磷酸酶染色和茜素红染色鉴定。结果与结论:羊水干细胞在体外培养体系中增殖迅速,核型为45,X/46,XX,流式细胞仪检测羊水干细胞表达CD29、CD44、CD90和CD105间充质干细胞表面标志,不表达造血干细胞标志CD45和CD34;大部分细胞处于 G1期,增殖能力强。羊水干细胞经成骨诱导分化后,碱性磷酸酶染色和茜素红染色阳性。结果可见该实验成功分离获得45,X/46,XX (Turner 综合征)羊水干细胞,其增殖能力强,表现间充质干细胞的特性。%BACKGROUND: Great progress has been achieved on studies on isolation, culture and biological characteristics of amniotic fluid-derived mesenchymal stem cel s. However, few studies are reported on amniotic fluid-derived mesenchymal stem cel s in 45, X/46, XX (Turner’s syndrome). OBJECTIVE: To develop a simple culture protocol to isolate amniotic fluid-derived mesenchymal stem cel s and investigate the biological characteristics of amniotic fluid-derived mesenchymal stem cel s. METHODS: We developed a gradient dilution culture protocol to isolate a population of 45, X/46, XX (Turner’s syndrome) amniotic fluid-derived mesenchymal stem cel s from second-trimester amniocentesis. The morphology of amniotic fluid-derived mesenchymal stem cel s was observed by

  8. Successful prenatal diagnosis following elimination of maternal cell contamination in a family with recessive dystrophic epidermolysis bullosa%成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

    Institute of Scientific and Technical Information of China (English)

    梁键莹; 陶炯; 张定国; 祁怀山; 杨丽萍; 杨祖菁; 虞荷莲; 姚志荣

    2009-01-01

    Objective To perform a DNA-based prenatal diagnosis in a family with recessive dys-trophic epidermolysis bullosa, and to develop a strategy to eliminate matemal cell contamination in arnniotic fluid samples. Methods Amniocentesis was carried out at gestation week 16, amniotic fluid culture was used to separate fetal cells from maternal blood cells. Peripheral blood was obtained from the proband, and her parents. Genomic DNA was extracted from peripheral blood and aminotic cells. Subsequently, PCR and direct sequencing were performed to detect pathogenic mutations in the COL7A1 gone. Karyotype analysis was used to confirm paternal information in amniotic fluid. Linkage analysis between micro-satellite markers was performed to confirm the fetal genotype. Resulta Centrifugation showed visible contamination of aminotic cells by blood cells. Direct sequencing revealed that the proband was a carrier of both maternal mutation, R525X in exon 12, and paternal mutation, R2610X in exon 105, while the fetus only carried the maternal mutation, R525X. The second direct sequencing and hapiotype analysis after elimination of mater-nal blood cells by amniotic fluid culture confirmed that the fetus was a carrier of maternal mutation with nor-real phenotype. The pregnancy continued and a clinically unaffected girl was born at gestation week 40.Conclusion The accuracy of DNA-based prenatal diagnosis could be improved by the combination of direct sequencing, amniotic fluid culture, karyotype analysis and linkage analysis, etc.%目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除

  9. 1000例孕妇孕中期唐氏筛查检测分析%Screening analysis on pregnant women with Down’s syndrome (Report of 1 000 cases)

    Institute of Scientific and Technical Information of China (English)

    段琳; 王淑仙; 王硕

    2013-01-01

      Objective To investigate the clinical value of second trimester Down’s syndrome screening. Methods The level of serum AFP and free-β-hCG of 1 000 pregnant women(14-21 weeks)were detected by time-distinguished fluorescence immunoassay. The value of serum markers combined with the maternal age , body weight, gestational age, race, past medical history and other factors were taken into account to conduct a comprehensive analysis by the screening software. Results In 1 000 cases of pregnant women, 22 cases were considered as high risk of Down’s syndrome, thereby the positive rate was 2.2%. All the positive cases of Down’s syndrome screening received amniocentesis, 1 case of which was Down’s syndrome, accounting for 4.55%;4 cases were 18-trisomy, accounting for 0.4%of all the cases;2 cases were of high risk of neural tube defect, accounting for 0.2% of all the cases; 12 cases of the pregnant women aged >35 year-old were of high risk, accounting for 1.2%of all the cases. Conclusion Maternal serum AFP and free-β-hCG level in second trimester are effective indicators for predicting abnormal fetal and adverse pregnancy outcomes. It’s an effective way to reduce the rate of congenital defect. Combining the detection of maternal serum AFP and free-β-HCG level with amniotic fluid or umbilical cord blood detection and B-ultrasonic examination may improve the effective rate of prenatal screening. Therefore, in order to give a good prenatal care and improve the quality of newborn babies it is necessary to popularize prenatal detection and make more pregnant women realize the importance of prenatal screening.%  目的探讨孕中期唐氏筛查检测的临床意义。方法应用时间分辨免疫荧光法对1000例孕14~21周妊娠妇女进行血清甲胎蛋白和游离β绒毛膜促性腺激素水平检测,将被测的孕妇血清标记物的数值结合孕妇的年龄、体重、孕周、种族、既往病史等因素输入到筛查软件中进行综

  10. Application of non-invasive prenatal DNA test in screening of Down's syndrome%无创 DNA产前检测技术在诊断胎儿唐氏综合征中的应用

    Institute of Scientific and Technical Information of China (English)

    王艳; 窦肇华; 蒋智; 王大伟; 侯朝辉; 于剑飞; 刘建; 曹志生; 夏超群; 张晋玚; 商微

    2014-01-01

    Objective:To explore application value of non-invasive prenatal test in screening of Down ' s syndrome through using high-throughput sequencing technique to test fetal free DNA in maternal Peripheral blood. Methods:A total of 115 cases with singleton pregnancies, whose fetuses were at high risk of Down's syndrome by prenatal serological and B ultrasound screening, were se-lected. Their plasma was sampled for the non-invasive prenatal DNA test, and amniotic fluid was also collected for the chromosome karyotype analysis, wherein the result of the latter was used as a "gold standard". The results of the non-invasive prenatal DNA test and the chromosome karyotype analysis were compared and analyzed. The percentage of fetal DNA in the total maternal circulating DNA was inferred by calculating the number of reads mapped to Y chromosome. Results: In the 115 cases, there were 15 cases judged as high-risk Down's syndrome for their fetuses and 100 cases judged as low-risk Down's syndrome for their fetuses through the non-inva-sive prenatal DNA tes;and in the 100 cases, their G band karyotypes were all normal, however, in the 15 case, 14 cases were finally diagnosed as Down's syndrome through the chromosome karyotype analysis. Conclusions:The new non-invasive prenatal DNA test for Down's syndrome has the same sensitivity and specificity with the chromosome karyotype analysis of the aminotic cells; it has the ad-vantages of safety, non-invasion, and high throughput, therefore, it has a wider clinical application value. However, a further amnio-centesis confirmation is definitely required for the high-risk case identified by the non-invasive prenatal test.%目的:利用高通量测序技术检测孕妇外周血中的胎儿游离 DNA,探讨唐氏综合征无创产前检测的应用价值。方法:选择唐氏综合征高风险而进行确定诊断的单胎孕妇115例,用孕妇血浆进行无创DNA产前检测。同时,采集羊水,进行染色体核

  11. Prenatal diagnosis of a de novo partial duplication of chromosome 21 associated with Down syndrome:a case report and literature review%新生21号染色体部分重复致胎儿唐氏综合征的产前诊断一例并文献复习

    Institute of Scientific and Technical Information of China (English)

    戚庆炜; 周希亚; 蒋宇林; 郝娜; 周京; 刘俊涛; 边旭明

    2013-01-01

    Objective:To report a case of de novo partial duplication of chromosome 21 associated with Down syndrome and review the literatures.Clinical data:A 29-year-old gravida 1,para 0 woman came to our clinic at 15 gestational weeks.The ultrasound showed the nuchal fold of 0.6 cm thickness.The maternal serum screening showed that the risk of fetal Down syndrome was 1/110.The amniocentesis was performed at 18 weeks of gestation.The interphase fluorescence in situ hybridization (FISH) showed three signals of the probe DSCR2:21q22.The karyotyping of the amniotic fluid cell was 46,XX,21p+.Results:The karyotyping of the blood lymphocytes from the parents was normal.The metaphase FISH analysis revealed that the segment of the 21p+ was 21q22 in origin.The array-based comparative genomic hybridization(aCGH)analysis demonstrated a 11.74 Mb duplication of 21q22.12-q22.3,a 1.31 Mb duplication of 21q21.3,a 1.33 Mb duplication of 21q21.1 and a 1.68 Mb deletion of 21q21.1-21q21.2.The parents opted to terminate the pregnancy.A malformed female fetus with some characterization of Down syndrome was delivered.Conclusions:FISH and aCGH analyses are useful in prenatal diagnosis of de novo alterations of small fragments of the chromosome.%目的 报道罕见的新生21号染色体部分重复致胎儿唐氏综合征的产前诊断一例,并对相关文献进行复习.临床资料 患者29岁,G1P0,孕15周超声发现胎儿颈后皱褶厚0.6 cm,孕16周母血清学筛查提示胎儿罹患唐氏综合征的风险为1/110,孕18周行羊膜腔穿刺术.采用DSCR2:21q22探针的羊水间期细胞荧光原位杂交(fluorescence in situ hybridization,FISH)分析发现在细胞核中出现3个杂交信号,但羊水细胞染色体核型分析结果为46,XX,21p+. 结果 孕妇夫妇外周血染色体核型分析未见异常,进一步行羊水中期分裂相FISH分析发现在一条21号染色体的短臂上出现了一个杂交信号.提取羊水细胞DNA行基于微阵列

  12. Correlation between Fetal Pyelectasis and Chromosome Aneuploidy: a Retrospective Study of 122 Cases%122例胎儿肾盂扩张与染色体非整倍体的关联性分析

    Institute of Scientific and Technical Information of China (English)

    商梅娇; 周祎; 鲁云涯; 陈涌珍; 陈宝江; 方群

    2013-01-01

    [Objective] To explore the correlation between fetal pyelectasis and aneuploidy. [Methods] A retrospective study of the karyotypes and delivery outcomes of selected 122 cases with fetal pyelectasis. Invasive prenatal procedures (amniocentesis or cordocentesis) were performed on all 122 patients with ultrasound guidance. [Results] Among the 122 fetal karyotypes, 87.7% (107/ 122) were normal karyotype, 4.9% (6/122) chromosomal abnormality and 7.4% (9/122) chromosomal polymorphism. All the cases were divided into four groups, Group Ⅰ (67 cases) with isolated pyelectasis, Group Ⅱ (34 cases) in association with one soft marker, Group Ⅲ (7 cases) complicated with two or more soft markers and Group Ⅳ (14 cases) accompanied with fetal structural malformation. From Group Ⅰ to Ⅳ , there were 94% (63 cases), 82.4% (28 cases), 100% (7 cases), and 64.3% (9 cases) with normal karyotypes, respectively; 4.5% (3 cases), 17.6% (6 cases), none case, and none case with chromosomal polymorphism; 1.5% (1 case), none case, none case, and 35.7% (5 cases, including 3 Down syndrome, 2 other abnormal karyotypes) with abnormal karyotypes. The 107 successfully followed-up newborns, including 87 boys and 20 girls, made the sexy ratio 4.35;1 (boy: girl). Eleven cases terminated pregnancy. In the 96 alive cases, 4 newborns were delivered prematurely, 92 were termly, 35 eutocia, and 61 cesarean; the average born gestational weeks was 39.1 weeks. Surgeries were carried out on 10 newborns because of hydronephrosis without relieving or exacerbation. [Conclusion] Isolated pyelectasis should not be a direct indication of invasive prenatal procedures. However, when fetal pyelectasis is accompanied with other soft markers or fetal structural malformation, invasive prenatal procedures for aneuploidy is advocated. The urinary system function should be followed up closely after birth, and the majority of the pyelectasis fetuses have satisfying prognosis.%[目的]探讨胎儿肾盂扩张在染

  13. Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester%孕中期羊水细胞染色体核型分析及其异常核型发生率的比较

    Institute of Scientific and Technical Information of China (English)

    张月萍; 伍俊萍; 李笑天; 雷彩霞; 徐建忠; 殷民

    2011-01-01

    ,占全部异常核型的35.6%( 138/388),其次为常染色体平衡性结构重排为20.6% (80/388)、嵌合体为12.4% (48/388)、18三体为11.3% (44/388),其他较常见的异常核型包括常染色体非平衡性结构重排和45,X0,各为4.1%(16/388),47,XXY为3.9%(15/388)。(3)父母淋巴细胞核型分析:153个胎儿进行了其父母淋巴细胞的核型分析,并最终确定了胎儿异常核型来源:家族性异常58个,新发生的异常95个。78个胎儿的荧光原位杂交技术诊断结果与G显带核型全部一致,其中2个为21三体。结论不同检查指征孕妇的胎儿异常核型的构成不同;孕中期胎儿异常核型种类繁多,致畸风险与异常核型种类有关。%Objective To investigate the karyotypes of amiotic fluid cells and compare the incidence of chromosomal abnormality as well as to evaluate the clinical significance of abnormal karyotypes. Methods A total of 13 648 pregnant women came to Shanghai Jiai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fuclan University to do amniocentesis from September 1998 to November 2010, and 13 795 amniotic fluid specimens were successfully extracted and cultured, thus 13 795 fetuses received karyotype diagnosis. These fetuses were grouped according to different indications. If maternal age was ≥ 35, the fetuses were grouped into the advanced maternal age group (4065) ; and if maternal serum screening test revealed high-risk of trisomy 18 or trisomy 21, the fetuses were grouped into the high-risk serum screening group (6462) ; and those with abnormal signs of ultrasound screening were grouped into the abnormal ultrasound signs group (1539); and if either of the parents was with chromosome abnormalities, the fetus was grouped into the paternal/maternal abnormality group ( 108 ) ; whereas the remainder were grouped in other factors group ( 1621 ). The amniotic fluid cells were in-situ cultured on coverslips, harvested by conventional G-banded methods

  14. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.

    Science.gov (United States)

    Wilson, R Douglas; Gagnon, Alain; Audibert, François; Campagnolo, Carla; Carroll, June; Brock, Jo-Ann; Chong, Karen; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallee-Pouliot, Karine

    2015-07-01

    pathologie de possibles anomalies fœtales. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu’en juin 2014 au moyen d’un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. Valeurs : La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d’étude canadien sur les soins de santé préventifs (Tableau). Avantages, désavantages et coûts : Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l’anxiété, création d’anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l’accouchement d’un enfant présentant une morbidité reconnue. Recommandations 1. Les fournisseurs de soins de santé devraient

  15. Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies%新一代测序技术用于胎儿染色体非整倍体无创产前检测的研究

    Institute of Scientific and Technical Information of China (English)

    刘静; 王华; 席惠; 贾政军; 周玉春; 邬玲仟

    2015-01-01

    Objective To explore the value of next-generation sequencing for the non-invasive prenatal testing of fetal chromosomal aneuploidies.Methods Plasma from 4004 women with singleton pregnancy at a gestational age between 12~35+5 weeks was collected prior to amniocentesis between April 19th 2011 and December 31st 2013.The samples were divided into three groups:(1) High risk for Down syndrome by biochemical screening;(2) Advanced maternal age;(3) Abnormalities by ultrasound or other methods.Plasma DNA extracted from above samples was sequenced at low coverage.Positive results were verified against the karyotypes of the fetuses.For those with negative results,the fetuses were followed up by telephone call for at least six months after birth.Results Among 4003 samples subjected to non-invasive prenatal diagnosis,66 (1.65%) had a positive result.In group 1,22 cases of trisomy 21 (T21),3 cases of risomy 18 (T18),1 case of 13 trisomy (T13),8 cases of 45,X and 2 cases of other chromosomal abnormality were detected.In group 2,13 cases of T21,2 cases of T18,1 case of T13,5 cases of 45,X,2 cases of 47,XXN and 1 case of other chromosomal abnormality were detected.In group 3,1 case of T21,1 case of T18,1 case of T13,and 3 cases of 47,XXN were detected.For 55 samples underwent prenatal diagnosis,30 cases of T21 and 4 cases of T18 were discovered,which was consistent with the results of noninvasive prenatal diagnosis.For the 13 cases indicated as 45,X,3 were verified by karyotype analysis,2 were verified as mosaicism (45,X/46,XN),8 were 46,XN (false positives).For the 5 cases indicated as 47,XXN,2 were verified by karyotype analysis,the other 3 were 46,XN (false positives).Karyotypes of 3 cases suspected for other chromosomal abnormalities were all verified as 46,XN (false positive).Until May 1st 2014,telephone follow-up for those with negative screening results only identified a boy with facial abnormalities and developmental delay,which was similar to his older sister

  16. 降低出生缺陷关键技术及干预措施的研究%Study on key techniques and intervention in reducing birth defects

    Institute of Scientific and Technical Information of China (English)

    朱宝生; 林克萍; 陈红; 李苏云; 苏洁; 卢晓红; 贺静; 朱姝; 焦存仙; 章锦曼; 唐新华; 陶滢

    2011-01-01

    intervention. Results Approximately 30. 10% (1506/5004) of pregnant women were administered by oral folic acid during perinatal period. Two thousand three hundred and thirteen women with high risks of DS,ES, or NTD fetuses were observed among 27 660 undergoing maternal serum screening. Two thousand and ninety-six pregnant women including two twins pregnant women were performed cytogenetic analysis. Other 67 pregnant women at high risk of DMD, SMA, thalassemia, and G6PD accepted genetic counseling and prenatal gene analysis. Two thousand one hundred and sixty-three pregnant women (2165 fetuses) underwent prenatal examination. One hundred and two cases chromosome abnormalities, 17 cases NTD, 4 cases DMD, 1 cases α-thalassemia major were found. All of the 91 fetuses with major birth defects were terminated after genetic counseling. Another affected DS fetus in a twin pregnancy dead intrauterine at 24 gestational weeks. Thirty-two women bearing fetuses with balanced translocations or inversions continued their pregnancies. Totally 2071 normal term fetuses were born in the prenatal diagnosis group. Two fetuses with normal chromosome were lost within 1 week after amniocentesis. Four affected DS fetuses were born from their high risk mothers who refused further prenatal diagnosis service. In a random sampling follow-up cohort of 5000 mothers at low risk, none of affected child suffering target diseases was found. The DS detection rate of maternal serum screening was 84% (27/32), with the false positive rate was 6. 153% (1702/27 660).Conclusions Folic acid intake before conception and in the first trimester would reduce the risk of birth defects, only 1/3 reproductive women took folie acid actively. Maternal serum screening could effectively detect high risk of DS, ES and NTD. The genetic counseling is critical in women at high risk or who had family history of inherited disorders. The prenatal screening and diagnosis combined with routine obstetric care could reduce the

  17. 胎儿染色体核型异常的临床分析%Clinical analysis of fetal chromosomes karyotype abnormalities

    Institute of Scientific and Technical Information of China (English)

    林晓娟; 孙庆梅; 何晓春; 吴菊; 葛婷婷; 代维斯

    2016-01-01

    Objective To study the indications of prenatal diagnosis of fetal chromosome karyotype abnormalities,and provide the basis for prenatal diagnosis and clinical genetic counseling. Methods From October 2010 to April 2014,a total of 5 655 cases of pregnant women who received prenatal diagnosis of fetal karyotype analysis in Prenatal Diagnosis Center,Gansu Provincial Maternity and Child-care Hospital were selected as research subjects.The indications of prenatal diagnosis of the 5 655 cases of pregnant women contained high-risk indications of antenatal serological screening,such as trisomy 21 syndrome risk≥1/270 or trisomy 18 syndrome risk≥1/350 (2 482 cases),age ≥35 years old (1 889 cases),adverse pregnancy history (675 cases),chromosomal abnormalities of one of the couple (49 cases),prenatal ultrasound abnormalities (465 cases),and exposure to the poisonous and harmful substance,drugs that may cause teratogenicity and radical line (95 cases ).All the indications of prenatal diagnosis were uncrossed.Fetal chromosome karyotype abnormalities were diagnosed by amniocentesis. Different kinds of fetal chromosomes karyotype abnormalities, the number and detection rate,the relationship between fetal chromosome karyotype abnormalities and prenatal ultrasound abnormalities were analyzed by retrospective method.And the fetal chromosomes karyotype abnormalities detection rates of different indications of prenatal diagnosis were analyzed by statistical methods.The study protocol was approved by the Ethical Review Board of Investigation in Gansu Provincial Maternity and Child-care Hospital.Informed consent was obtained from each patient before receiving invasive prenatal diagnosis.Results ①Among the 5 655 cases of pregnant women who received invasive prenatal diagnosis,124 cases were detected as fetal chromosomal karyotype abnormalities,and the detection rate was 2.2%.Among 2 482 cases of pregnant women with high-risk indications,1 889 cases with age ≥ 35 years old,675

  18. 妊娠中期血清学三联筛查指标异常对孕妇发生不良妊娠结局的预测价值%Predictive value of abnormal second-trimester maternal serum triple screening markers for adverse pregnancy outcomes

    Institute of Scientific and Technical Information of China (English)

    胡祝明; 刘祥印; 李琳琳; 贾春澍; 李德军; 刘睿智

    2014-01-01

    孕妇的预产年龄、体质量和血清学三联筛查指标MoM值分别进行比较,差异均有统计学意义(P<0.01).(4)不良妊娠结局组孕妇血清学AFP MoM值>2.0、F-β-hCG MoM值>2.0、uE3 MoM值<0.5的发生率分别为7.95%(19/239)、23.85%(57/239)和4.18%(10/239);仅有两项指标MoM值异常的发生率为5.02%(12/239)、三联指标MoM值均异常的发生率为0.84%(2/239);健康孕妇组孕妇三联指标中仅有两项指标MoM值异常的发生率为0.14%(11/7 760)、三联指标MoM值均为异常的发生率为0.两组孕妇血清学三联筛查各指标MoM值异常发生率比较,差异均有统计学意义(P<0.01).结论 孕中期孕妇血清学三联筛查指标异常与不良妊娠结局发生有一定的相关性,孕中期血清学三联筛查对21三体、18三体和ONTD的检出有较高的实用价值.%Objective To investigate the predictive value of abnormal multiples of the median (MoM) of second trimester maternal serum triple screening (STMSTS) markers for adverse pregnancy outcomes.Methods 16 000 singleton pregnancies at 15+0 to 20+6 weeks' gestation who underwent STMSTS between July 2010 and January 2013 in the First Hospital of Jilin University were recruited.Maternal serum AFP,free β-hCG (F-β-hCG) and unconjugated estriol (uE3) levels were measured using time-resolved fluoroimmunoassay,and then convened to MoM.LifeCycle 3.2 software was used to calculate risk,and a risk value greater than 1 in 270 or 1 in 350 was considered as high risk for trisomy 21 syndrome (Down syndrome,DS) and trisomy 18 syndrome (Edwards syndrome,ES),respectively.MoM of AFP more than 2.5was considered high risk for open neural tube defect (ONTD).Amniocentesis and karyotyping,ultrasound screening were advised for high risk women.AFP,F-β-hCG higher than 2.0 MoM or uE3 lower than 0.5MoM was considered as abnormal,respectively.The MoM of STMSTS marker between women with adverse pregnancy outcome and with normal outcome was