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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)

    ... who are at increased risk of having a child with birth defects. This includes women who: Will be 35 ... or after your pregnancy What special needs your child may have after birth What other options you have about maintaining or ...

  4. 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: ...

  5. 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 ...

  6. Traumatic prenatal sigmoid perforation due to amniocentesis

    Energy Technology Data Exchange (ETDEWEB)

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

    2001-06-01

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

  7. [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

  8. 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). 884.1550 Section 884.1550 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN... gestation for antepartum diagnosis of certain congenital abnormalities or anytime after 24 weeks...

  9. 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

  10. 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...

  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. Phthalates and Perfluorooctanesulfonic Acid in Human Amniotic Fluid: Temporal Trends and Timing of Amniocentesis in Pregnancy

    OpenAIRE

    Jensen, Morten Sondergaard; Norgaard-Pedersen, Bent; Toft, Gunnar; Hougaard, David M.; Bonde, Jens Peter; Cohen, Arieh; Thulstrup, Ane Marie; Ivell, Richard; Anand-Ivell, Ravinder; Lindh, Christian; Jönsson, Bo A

    2012-01-01

    Background: Measures of prenatal environmental exposures are important, and amniotic fluid levels may directly reflect fetal exposures during hypothesized windows of vulnerability. Objectives: We aimed to detect various phthalate metabolites and perfluorooctanesulfonic acid (PFOS) in human amniotic fluid, to study temporal exposure trends, and to estimate potential associations with gestational week of amniocentesis and maternal age and parity at amniocentesis. Methods: We studied 300 randoml...

  14. Cortisol and Anxiety Response to a Relaxing Intervention on Pregnant Women Awaiting Amniocentesis

    OpenAIRE

    Ventura, T; Gomes, MC; Carreira, T

    2012-01-01

    Background: Stress and anxiety during pregnancy have been associated with premature and low birth weight babies, presumably through fetus over exposion to glucocorticoids. Antenatal stress also seems to have long-term effects upon infant development and adult health. However, medication for stress may carry risks to the expectant mother, therefore the efficacy of nonpharmacological interventions should be investigated. Methods: Pregnant women (n = 154) awaiting amniocentesis, were ra...

  15. 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

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    Bagherizadeh E

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Dragoslav Bukvic

    2011-05-01

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

  19. 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.

  20. 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.

  1. 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.

  2. 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。

  3. 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

  4. 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

  5. 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),

  6. 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.

  7. Amniocentesis in the West Midlands: report on 1000 births

    OpenAIRE

    Webb, Tessa; Edwards, J H; Cameron, A. H.; Crawley, J Margaret; Hulten, Maj; Rushton, D. I.; Thompson, R. A.

    1980-01-01

    Two laboratories in the West Midlands have monitored 1000 `at risk' pregnancies. Of these 57% were referred for chromosomal indications and 43% for possible neural tube defects. The largest at risk groups (both 37%) were those mothers who had already had a pregnancy resulting in a baby with a neural tube defect (21% spina bifida and 16% anencephaly), and those who were referred because of the increased risk of Down's syndrome in pregnancies where the mother was over 35 years old. Six percent ...

  8. Medico-legal and ethical approach to the legal interruption of pregnancy after aspiration biopsy of the chorionic villi and early amniocentesis.

    Science.gov (United States)

    Beric, B; Krstic, A; Popovic, D; Cvejic-Jancic, O

    1988-01-01

    According to article 191 of the 1974 Yugoslavian Constitution, men have the right to decide freely on the birth of a child. According to the Law of conditions and proceedings for permitting abortion (1978), pregnant women are allowed to make the decision to abort freely up to the 10th week of pregnancy. Between the 10th and 20th week there are medical, eugenic, and moral indications for abortion; medical indication being disease or a high risk to the other of the mother; eugenic indications being heredity deformities in the fetus or heavy abnormalities; and moral indications being pregnancies caused by the commission of a crime like rape or incest. In the region of Vojvodina, population 2 million, there were 25,000 live births and twice as many abortions. The traditions of Yugoslavia are that fetuses have a right to life including a high quality of life free from disease and genetic abnormalities. Doctors are relied upon to take the greatest responsibility in terms of doing the ethical things for a pregnant woman and the fetus. Modern medical technology allows doctors and patients to have ever greater amounts of information so that an informed decision can be made about the health and well being of the mother and the fetus. PMID:2979476

  9. 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...

  10. 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.

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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: ...

  15. 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 ...

  16. 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

  17. 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.

  18. 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,…

  19. 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...

  20. 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...

  1. 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

  2. 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

  3. [The fertility of trisomy 21 sufferers. One case (author's transl)].

    Science.gov (United States)

    Grall, J Y; Le Goux, A M; Le Marec, B; Picard, F; Larget-Piet, L; Dubois, J

    A case of pregnancy in a patient with trisomy 21 with birth of a hypotrophic infant, with a normal caryotype but multiple malformations. This case illustrates the limitations on antenatal diagnosis by amniocentesis. Study of the literature confirms the unfavourable foetal prognosis as a result of the risk of transmission of the chromosomal abnormality and, secondly, the prevalence of incest. PMID:151263

  4. 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...

  5. Invasive prenatal diagnostic practice in Denmark 1996 to 2006

    DEFF Research Database (Denmark)

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

    2009-01-01

    The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic vil...

  6. 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

  7. Radioimmunoassay of alpha-foeto protein in the amniotic fluid in normal and pathological pregnancies

    International Nuclear Information System (INIS)

    A radioimmunoassay of AFP was developed and the normal amniotic concentrations of this protein were measured as a function of the gestation age. The specific reagents used included a rabbit anti-AFP serum and a highly purified preparation of AFP labelled with 125I, which also served as a standard. Amniotic fluid was drawn off by amniocentesis between the 11th and 40th week following the last menstrual period. Samples of amniotic fluid were also obtained in 2 cases of foetal death in utero and 3 cases of anencephaly. The normal amniotic AFP concentration limits were particularly well established between the 14th and 18th weeks, an ideal period to perform an amniocentesis both from a technical viewpoint and with regard to the bulk of information obtainable for the antenatal diagnosis of many congenital diseases. The concentrations observed in pathological cases were distinctly higher than the upper 95% confidence limit of normal values for the gestation age considered

  8. 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...

  9. 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...

  10. 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...

  11. 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

  12. Prenatal Testing - Multiple Languages: MedlinePlus

    Science.gov (United States)

    ... Chinese - Simplified (简体中文) Chinese - Traditional (繁體中文) French (français) Hindi (हिन्दी) Japanese (日本語) Korean (한국어) Portuguese (português) ... grossesse - français (French) Bilingual PDF Health Information Translations Hindi (हिन्दी) Amniocentesis हिन्दी (Hindi) Bilingual PDF ...

  13. 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 ...

  14. Rapid Detection of Group B Streptococcus and Escherichia coli in Amniotic Fluid Using Real-Time Fluorescent PCR

    OpenAIRE

    David Stamilio; Stephen Golden; David Streitman; Sara Stassen; Oswald Johnson; Camille Blackmon; Wifred Dela Cruz; Michele Straka

    2004-01-01

    OBJECTIVE: To establish reliability and validity of real-time fluorescent PCR for early detection of bacterial invasion of the amniotic cavity. METHODS: Amniotic fluid samples from 40 patients undergoing mid-trimester genetic amniocentesis were incubated for 6 h at 37 degrees C and were cultured on media specific for group B streptococcus (GBS) and E. coli. Concurrently, samples were analyzed with real-time fluorescent PCR (Roche LightCycler) using DNA primers and probes designed to detect th...

  15. Comparison of Polyfluoroalkyl Compound Concentrations in Maternal Serum and Amniotic Fluid: A Pilot Study

    OpenAIRE

    Stein, Cheryl R.; Wolff, Mary S.; Calafat, Antonia M.; Kato, Kayoko; Engel, Stephanie M.

    2012-01-01

    The extent to which polyfluoroalkyl compounds (PFCs) are detectable in amniotic fluid is unknown. Using paired samples from 28 women, we compared the concentration of 8 PFCs measured in serum, the standard matrix for assessing human exposure, amniotic fluid from routine amniocentesis, and urine. Perfluorooctanoate (PFOA), perfluorononanoate (PFNA), perfluorooctane sulfonate (PFOS), and perfluorohexane sulfonate (PFHxS) were detected in all maternal serum samples. The number of amniotic fluid ...

  16. Maternal alpha-fetoprotein screening: two years' experience in a low-risk district

    OpenAIRE

    1981-01-01

    Over a two-year period, 3479 pregnant women in the Kings' Lynn Health District were screened for neural tube defects by estimation of maternal serum alpha-fetoprotein. Most pregnancies were scanned by sonar for fetal maturity. Eight women had fetuses with open neural tube defects; four with anencephaly were associated with very high alpha-fetoprotein values. Of the four with open neural tube defects without anencephaly, only one was detected by screening and confirmed after amniocentesis. One...

  17. 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...

  18. Second trimester amniotic fluid cytokine concentrations, Ureaplasma sp. colonisation status and sexual activity as predictors of preterm birth in Chinese and Australian women

    OpenAIRE

    Payne, Matthew S.; Feng, Zhenhua; Li, Shaofu; Doherty, Dorota A; Xu, Biyun; Li, Jie; Liu, Lenan; Keelan, Jeffrey A.; Zhou, Yi Hua; Dickinson, Jan E.; HU, YALI; Newnham, John P.

    2014-01-01

    Background This study tested if second trimester amniotic fluid cytokine levels, Ureaplasma sp. colonisation and sexual activity predict preterm birth and explain the differential preterm birth rates in Chinese compared to Australian women. Methods Amniotic fluid was collected by amniocentesis (Chinese 480, Australian 492). Cytokines were measured by multiplex assay and Ureaplasma sp. DNA was detected by PCR analysis. Lifestyle factors, including history of smoking and sexual activity during ...

  19. 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...

  20. 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...

  1. 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...

  2. Amniotic fluid stem cells from second and third trimester, comparison and potency for regenerative medicine

    OpenAIRE

    Schiavo, Andrea Alex

    2013-01-01

    Amniotic Fluid Stem Cells (AFSCs) can be isolated from the amniotic fluid after amniocentesis that pregnant women undergo during the second trimester of pregnancy, this population has already been characterised and share common features between embryonic stem cells and adult mesenchymal stem cells. AFSCs are identified by specific markers; this study – as already published – focuses on the CD117 (c-Kit) positive fraction of AFSCs. Those cells are of great interest for regenerative medicine pu...

  3. 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...

  4. 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, ...

  5. 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...

  6. 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...

  7. 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...

  8. 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...

  9. 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 ...

  10. 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

  11. 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...

  12. 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...

  13. Why Do Parents Prefer to Know the Fetal Sex as Part of Invasive Prenatal Testing?

    OpenAIRE

    Kooper, Angelique J.A.; Pieters, Jacqueline J. P. M.; Eggink, Alex J.; Ton B. Feuth; Ilse Feenstra; Wijnberger, Lia D. E.; Rijnders, Robbert J. P.; Quartero, Rik W. P.; Boekkooi, Peter F.; van Vugt, John M. G.; Smits, Arie P.T.

    2012-01-01

    Objectives. The aim of this study was to determine whether prospective parents, primarily referred for prenatal diagnosis to exclude Down syndrome, prefer to know the fetal sex as part of invasive testing. Methods. In this prospective study 400 pregnant women undergoing amniocentesis were invited to answer a questionnaire, including information about demographic factors, current pregnancy, and previous children. In two open-ended questions they were asked why they wanted to know the fetal sex...

  14. 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...

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. 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

  1. [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

  2. 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.

  3. 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.

  4. 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.

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

    DEFF Research Database (Denmark)

    Philip, J; Bang, J; Madsen, Mette

    1977-01-01

    Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those with...... no increased risk (1.4%). Findings in several other studies seem to confirm that there is no significant difference between the risk groups in the proportion of abnormalities found. This suggests that our current risk groups may not be the right ones, but a much larger study is needed to confirm this....

  6. 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.

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

    International Nuclear Information System (INIS)

    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.

  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. 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

  10. 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...

  11. Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

    OpenAIRE

    Bogart, M H; Bradshaw, C L; Jones, O W; Schanberger, J E

    1986-01-01

    A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 months, at which time linear growth dropped below the 5th centile. In addition, there was delayed spe...

  12. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

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

  13. Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome.

    Science.gov (United States)

    Perez-Carbajo, Esther; Zapardiel, Ignacio; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality. PMID:25789188

  14. 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 ...

  15. Tecnología médica en el embarazo. Usos y representaciones

    OpenAIRE

    Montes-Muñoz, Mª Jesús; Martorell-Poveda, Mª Antonia; Conti-Cañada, Mª José; Jiménez-Herrera, María F.

    2009-01-01

    El embarazo está considerado socialmente como una situación de riesgo, por lo que las mujeres deben someterse a diferentes técnicas, con la finalidad de su detección precoz. En este trabajo analizamos dos de ellas: la ecografía y la amniocentesis con el objetivo de conocer sus usos y las representaciones que de ellas se desprenden. El análisis se realiza a partir del relato de la experiencia de doce mujeres embarazadas y dos médicos ecografistas. Encontramos que con la práctica de estas técni...

  16. [Prenatal diagnosis and obstetric management in association of hydramnios and homozygosity].

    Science.gov (United States)

    Zienert, A; Bollmann, R; Schilling, H; Chaoui, R; Witkowski, R; Altmann, G

    1989-06-01

    The patient was referred to hospital in the 29th week of gestation owing to polyhydramnions. Ultrasonography revealed isolated left-sided hypertrophy (from foetal chest to the lower extremity) with subcutaneous lymph cysts. Amniocentesis for genetic examination revealed a chromosomal disorder showing homozygous t(13q, 14q) translocation. This extremely rare anomaly could be explained only and was finally proven by a father-daughter incest. The authors underline the necessity of karyotyping as well as the ultrasonic exclusion of foetal malformations in patients with polyhydramnions. PMID:2663621

  17. 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...

  18. [Prenatal diagnosis of five cases of monochorionic-diamniotic twins discordant for karyotype analysis].

    Science.gov (United States)

    Wu, Jianzhu; Zhou, Yi; Lin, Shaobin; Chen, Baojiang; Xie, Yingjun

    2015-10-01

    OBJECTIVE To explore the mechanism and diagnostic method for monochorionic-diamniotic twins discordant for karyotype analysis. METHODS Dual amniocentesis was performed on five pairs of monochorionic-diamniotic twins, which all consisted of a normal twin and one with multiple malformations revealed by ultrasound. Karyotype analysis was performed on amniocytes derived from each of the twins. Zygosity was also determined with DNA extracted from amniocytes with 16 polymorphic microsatellite markers. RESULTS Three cases of 45,X, one case of 47,XX,+9 and one case of 47,XY,+18 were detected among the abnormal twins, while the normal fetuses all had a normal karyotype. DNA analysis suggested that, in all cases, the twins have shared the 16 polymorphic microsatellite markers, which confirmed their monozygosity. CONCLUSION Monochorionic-diamniotic twins may be discordant for karyotyping, for which anaphase lagging, chromosomal non-disjunction and trisomy rescue may be the underlying reasons. As a simple method, dual amniocentesis can be used to obtain amniotic fluid samples for karyotype analysis and determination of zygosity for such twins. PMID:26418994

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

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    Borna Sedigheh

    2009-10-01

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

  1. 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

  2. Bruk av amniocenteser og chorionbiopsier i Norge

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    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

  3. 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

  4. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    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...... unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome......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...

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

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

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

  6. Pathohistological changes in fetuses with cystic fibrosis

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    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.

  7. 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.

  8. Midtrimester fetal herpes simplex-2 diagnosis by serology, culture and quantitative polymerase chain reaction.

    Science.gov (United States)

    Curtin, William M; Menegus, Marilyn A; Patru, Maria-Magdalena; Peterson, C Jeanne; Metlay, Leon A; Mooney, Robert A; Stanwood, Nancy L; Scheible, Amy L; Dorgan, Angela

    2013-01-01

    The acquisition of herpes simplex virus (HSV) in utero comprises a minority of neonatal herpes infections. Prenatal diagnosis is rare. We describe a midtrimester diagnosis of fetal HSV-2 infection. Ultrasound at 20 weeks for elevated maternal serum α-fetoprotein (MSAFP) showed lagging fetal growth, echogenic bowel, echogenic myocardium, and liver with a mottled pattern of echogenicity. Amniocentesis demonstrated normal karyotype, elevated AFP and positive acetylcholinesterase. Culture isolated HSV-2 with an aberrant growth pattern. Maternal serology was positive for HSV-2. Quantitative DNA polymerase chain reaction (PCR) showed 59 million copies/ml. Fetal autopsy demonstrated widespread tissue necrosis but only sparse HSV-2 inclusions. Fetal HSV-2 infection can be suspected when an elevated MSAFP accompanies ultrasound findings suggesting perinatal infection. Maternal HSV serology, amniotic fluid culture and quantitative PCR are recommended for diagnostic certainty and counseling. PMID:23075531

  9. The relationship of ceruloplasmin and neural tube defects

    Directory of Open Access Journals (Sweden)

    Çağlar Yazıcıoğlu

    2010-06-01

    Full Text Available Objective: To compare the levels of ceruloplasmin (cp in the amniotic fluids and maternal bloods of second trimester fetuses with and without neural tube defects (NTD.Materials and Methods: 66 pregnant women were included in the study. Amniocentesis was performed in 32 women in a patient group diagnosed as NTD or anencephaly and 34 pregnants in a control group with positive Down Syndrome screening test. Maternal bloods were also taken. Cp was measured with Erel’s ceruloplasmin measurement method.Results: The cp levels of the amniotic fluid of patients and controls were not statistically different (p>0.05. The cp levels of the maternal bloods were not different in two groups (p>0.05.Conclusion: As an antioxidant, no relation was found between cp and NTD.

  10. 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.

  11. 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.

  12. Fetal Sonography for the Detection of Chromosomal Abnormality

    International Nuclear Information System (INIS)

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

  13. Fetal Sonography for the Detection of Chromosomal Abnormality

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-06-15

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

  14. Leiomyoma in pregnancy: Echosonographic mimicry

    Directory of Open Access Journals (Sweden)

    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.

  15. 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

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Diagnóstico prenatal del retraso de crecimiento intrauterino mediante marcadores bioquímicos: IGF-I, IGFBP-I, Leptina y AFP.

    OpenAIRE

    Gómez Roig, Ma. Dolores

    2002-01-01

    Diferentes estudios intentan relacionar marcadores bioquímicos con el estado nutricional fetal, capaces de discernir de forma más precoz aquellos fetos que presentarán una situación más comprometida. El disponer de la amniocentesis, como técnica de diagnóstico prenatal, permite estudiar estos marcadores bioquímicos en etapas más tempranas del embarazo, así como su implicación en la fisiopatología del RCIU. HIPÓTESIS DE TRABAJO: La determinación de IGF-I, IGFBP-I, Leptina, y AFP en etapas tem...

  19. [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

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

    Directory of Open Access Journals (Sweden)

    Ori Shen

    2014-04-01

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

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

    Science.gov (United States)

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

    2016-03-01

    Fetal lymphangioma is a hamartomatous congenital anomaly of the lymphatic system, which is embracing the fetal skin (sometimes mucous membranes) and the subcutaneous tissue. The general consensus is that it occurs as a result of failure in lymphatic drainage. A 36-year-old pregnant woman was referred to our perinatology clinic at 22 weeks' gestation, because of a fetal right-sided axillary mass revealed by ultrasonography. The mass measuring 5x7x7cm in three dimensions had a multilocular structure without colour Doppler flow and well-circumscribed borders. Amniocentesis revealed a normal constitutional karyotyping. Lymphangioma was considered as prediagnosis. A healthy female baby weighing 3470 grams was delivered at term. Neonatal examination and the postnatal MRI confirmed the diagnosis. The baby is still on follow-up with the medical treatment of Sirolimus an anti-proliferative drug, and the mass got smaller significantly in 8 months after delivery. PMID:27134953

  2. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

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

  3. 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

  4. Prenatally diagnosed de novo complex chromosome rearrangements: Two new cases and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Ruiz, C.; Grubs, R.E.; Jewett, T. [and others

    1994-09-01

    Complex chromosome rearrangements (CCR) are rare structural rearrangements involving at least three chromosomes with three or more breakpoints. Although there have been numerous reports of individuals with CCR, most have been ascertained through the presence of multiple congenital anomalies, recurrent pregnancy loss, or infertility. Few cases have been ascertained prenatally. We present two new cases of prenatally ascertained CCR. In the first case, an amniocentesis revealed an apparently balanced de novo rearrangement in which chromosomes 5, 6 and 11 were involved in a three-way translocation: 46,XY,t(6;5)(5;11)(q23;p14.3;q15;p13). The pregnancy was unevenful. Recently, at the age of 9 months, a physical and developmental evaluation were normal but, height, weight, and head circumference were below the 5th percentile. In the second case an amniocentesis revealed an unbalanced de novo rearrangement involving separate translocations and an interstitial deletion: 46,XY,del(6)(q25.3q27),t(3;8)(p13;q21.3),t(6;18)(p11.2;q11.2). A meconium plug was present at birth and at 6 months of age surgery for Hirschsprung`s disease was required. Currently, at 10 months of age, the patient has hypotonia and developmental delay. The paucity of information regarding prenatally diagnosed CCR poses a problem in counseling families. Of the four prenatally diagnosed balanced de novo CCR cases, three had abnormal outcomes. In a review of the literature, approximately 70% of the postnatally ascertained balanced de novo CCR cases were associated with congenital anomalies, growth retardation and/or mental retardation. More information regarding the outcome of prenatally ascertained balanced de novo CCR is required for accurate risk assessment.

  5. 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

  6. Contribution of Risk Factors to Extremely, Very and Moderately Preterm Births – Register-Based Analysis of 1,390,742 Singleton Births

    Science.gov (United States)

    Räisänen, Sari; Gissler, Mika; Saari, Juho; Kramer, Michael; Heinonen, Seppo

    2013-01-01

    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. PMID:23577142

  7. The role of FISH in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kulch, P.; Crandall, B.F.; Hsi, C. [Univ. of California, Los Angeles (United States)

    1994-09-01

    FISH provides a cytogenetic technique which is useful in defining de novo translocations, deletions, insertions, and marker chromosomes in prenatal diagnosis. While the cytogenetic interpretation may be improved with FISH, it may not resolve questions concerning prognosis and options which are genetic counseling issues. Two recent cases illustrate this. Case 1 involved a 45,X/46,X,+mar karyotype from amniocentesis. 22/50 cells had 46,X/46,X+mar; 28/50 cells had 45,X. The marker was smaller than a G. C banding did not confirm this as a Y. The father`s peripheral blood study was normal and his Y did not resemble the marker. It appeared likely that the marker was a structurally abnormal Y since male external genitalia were detected by fetal ultrasound. FISH using alpha- and classical (DYZ1/DYZ3) satellite Y-specific probes did not identify the marker as a Y. Case 2 was a fetus which had a de novo translocation 46,XX,t(3;11)(q26.3;q21) by amniocentesis and confirmed by UBS. FISH for the number 3 and 11 chromosomes confirmed this rearrangement. The parents were advised of the risk associated with a de novo balanced translocation. The possible prognosis for these two different fetuses was not changed by the FISH analysis. FISH, while helpful, is only one aspect of the studies done to provide more accurate genetic counseling to parents; the pregnancy/family history, fetal ultrasound, other possible prenatal studies and pregnancy outcome from perspective studies compose other important aspects that are not mutually exclusive.

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

    Directory of Open Access Journals (Sweden)

    Isabel Castro-Volio

    2011-12-01

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

  9. 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

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

    Institute of Scientific and Technical Information of China (English)

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

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Gekas J

    2014-07-01

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

  12. 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.

  13. Unexplained elevations of maternal serum alpha-fetoprotein.

    Science.gov (United States)

    Katz, V L; Chescheir, N C; Cefalo, R C

    1990-11-01

    Alpha-fetoprotein (AFP) is a commonly used prenatal screening test for congenital anomalies. However, when anomalies are excluded after high resolution ultrasound and/or amniocentesis, an elevated maternal serum AFP (MSAFP) has been found to be associated with a 2- to 4-fold increase in low birthweight resulting from both preterm delivery and intrauterine growth retardation. Unexplained MSAFP elevations are also associated with up to 10-fold increase of placental abruption and a 10-fold increase in perinatal mortality. Results from studies of over 225,000 screened pregnancies indicate that 20 and 38 per cent of women with an unexplained MSAFP elevation may have an adverse pregnancy outcome. Twin gestations with MSAFP elevations greater than four multiples of the median are associated with similar constellations of pregnancy complications. Maternal serum AFP elevations in women with pregnancy complications are most likely the result of a leak of AFP across the placenta. Optimum management of women with unexplained elevations has not yet been established; however, evaluation of fetal growth throughout gestation is important in these patients. PMID:1700347

  14. 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

  15. Girl child: her rights and law.

    Science.gov (United States)

    Gokhale, S D

    1995-01-01

    This article points out the disparity between India's laws to protect female children and their actual living conditions. It is asserted that the role of women needs to be strengthened and that equal rights are executed to the advantage of children. Equality must come at the very beginning of life. Girl children need access to health, nutrition, education, and other basic services. In India, girls are guaranteed an equal right to education, but fewer girls are enrolled in primary school, and very few girls go on to secondary schools. There is no enforcement of compulsory laws, which particularly disadvantage girls from poor families. Girls marry below the legal minimum age. Early childbearing shortens women's life expectancy and adversely affects their health, nutrition, education, and employment opportunities. Prevention of early child marriage should be strictly enforced. Amniocentesis is performed in order to determine the sex of the child and abort female fetuses. The Juvenile Justice Act of 1986 includes special provisions for the protection, treatment, and rehabilitation of girls under 18 years old and of boys younger than 16. This act protects girls trapped in brothels for child prostitution and protects any person engaged in an immoral, drunken, or depraved life. Juvenile Welfare Boards address the problem of neglected girls and offer special protective homes and supervision by probation officers. The act needs to strengthen noninstitutional services, such as sponsorship, family assistance, foster care, and adoption. Girl children grow to womanhood. Effective social development in childhood reaps rewards in adulthood. PMID:12157999

  16. 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.

  17. 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. PMID:22809468

  18. Expanding the phenotype of mosaic trisomy 20.

    Science.gov (United States)

    Willis, Mary J H; Bird, Lynne M; Dell'Aquilla, Marie; Jones, Marilyn C

    2008-02-01

    Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously been suggested. Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist. We have attempted to identify a set of findings for which any child diagnosed with mosaic trisomy 20 should be assessed or followed even in the presence of an apparently normal physical exam at birth. PMID:18203170

  19. Noninvasive prenatal diagnosis.

    Science.gov (United States)

    Cheng, Wei-Lun; Hsiao, Ching-Hua; Tseng, Hua-Wei; Lee, Tai-Ping

    2015-08-01

    Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited. PMID:26384048

  20. Public viewpoints on new non-invasive prenatal genetic tests.

    Science.gov (United States)

    Farrimond, Hannah R; Kelly, Susan E

    2013-08-01

    Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct "viewpoints" amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the "trivialisation of testing" and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies. PMID:23885055

  1. 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

  2. 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.

  3. 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.

  4. Aneuploidy among prenatally detected neural tube defects

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    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.

  5. 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

  6. 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

  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. 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.

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

    Science.gov (United States)

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

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA. PMID:27117661

  10. Levels of Adipokines in Amniotic Fluid and Cord Blood Collected from Dichorionic-Diamniotic Twins Discordant for Fetal Growth

    Science.gov (United States)

    Park, Joong Shin; Norwitz, Errol R.; Panyavatthanasinh, Sitthysack; Kim, Sun Min; Lee, JoonHo; Park, Chan-Wook; Kim, Byoung Jae; Jun, Jong Kwan

    2016-01-01

    Objective To compare the concentrations of adipokines in amniotic fluid (AF) and cord blood collected from discordant dichorionic-diamniotic (DCDA) twin fetuses. Study Design 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. Results 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; ptwins. In Cohort 2, the concentration of serpin E1 (median, 246.0 ng/mL vs 182.8 ng/mL; ptwins, but no difference was noted in adiponectin and leptin concentrations. Levels of adiponectin (median, 10425.5 ng/mL vs 11552.0 ng/mL; ptwins whereas cord blood concentrations of serpin E1 (median, 15.5 ng/mL vs 13.3 ng/mL; ptwins. Conclusion 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. PMID:27135745

  11. 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

  12. 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.

  13. 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.

  14. A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti.

    Science.gov (United States)

    Kim, Myung Joo; Lyu, Sang Woo; Seok, Hyun Ha; Park, Ji Eun; Shim, Sung Han; Yoon, Tae Ki

    2014-12-01

    The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages. PMID:25599040

  15. Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

    Science.gov (United States)

    Higuchi, Emily C; Sheldon, Jane P; Zikmund-Fisher, Brian J; Yashar, Beverly M

    2016-02-01

    Non-invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less support for individuals with Down syndrome. To assess the impact of NIPS on support for prenatal testing, decision-making about testing, and beliefs or attitudes about Down syndrome, we performed an Internet-based experiment using adults (N = 1,789) recruited through Amazon Mechanical Turk. Participants were randomly assigned to read a mock news article about NIPS, a mock news article about amniocentesis, or no article. The content in the two articles varied only in their descriptions of the test characteristics. Participants then answered questions about their support for testing, hypothetical testing decision, and beliefs and attitudes about Down syndrome. Reading the mock NIPS news article predicted increased hypothetical test uptake. In addition, the NIPS article group also agreed more strongly that pregnant women, in general, should utilize prenatal testing. We also found that the more strongly participants supported prenatal testing for pregnant women, the less favorable their attitudes towards individuals with Down syndrome; providing some evidence that NIPS may indirectly result in more negative perceptions of individuals with this diagnosis. PMID:26553705

  16. [Prevention of mental retardation: knowledge and perception by health professionals].

    Science.gov (United States)

    Moraes, Ana Maria Silveira Machado de; Magna, Luís Alberto; Marques-de-Faria, Antonia Paula

    2006-03-01

    This article aimed to evaluate the prevention of mental disability in primary healthcare services in Maringá, Paraná, Brazil. The sample consisted of 90 male and female physicians from different fields, namely gynecology and obstetrics, pediatrics, general practice, and family health, as well as 66 male and female nurses. A multiple-choice questionnaire was filled out by the subjects themselves from August to December 2003. Qualitative variables were compared using the chi-square test at 5% significance level. Partial data relating to both the perception and knowledge of health professionals concerning mental disability were as follows: 75% were unable to choose the correct alternative on prevalence; 25% did not know how the genome contributes to etiology; 37% were unaware of prevention for mental disability; 28% were not confident in providing orientation on the teratogenic effect of ethanol; 35% demonstrated insecurity in orienting patients on amniocentesis. The data showed that participants had an unsatisfactory perception of the relevance of mental disability within the overall population disease profile, and that they need more information on the respective genetic and environmental issues. PMID:16583112

  17. 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

  18. 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.).

  19. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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)

  2. Phytoestrogens in Human Pregnancy

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    John Jarrell

    2012-01-01

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

  3. 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.

  4. 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.

  5. 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

  6. 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.)

  7. 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

  8. Racial variation in incidence of trisomy 21: survey of 57,742 Chinese deliveries.

    Science.gov (United States)

    Lau, T K; Fung, H Y; Rogers, M S; Cheung, K L

    1998-02-01

    The objective of this study was to establish whether the influence of advanced maternal age on the incidence of trisomy 21 in the local Chinese population is similar to that seen among European patients by comparing the observed number of trisomy 21 cases against the expected number which was calculated from age-specific Caucasian data and adjusted for intrauterine lethality and rate of amniocentesis. The obstetric and neonatal data of 57,742 pregnancies in ethnic Chinese were reviewed, of which 10.5% were from mothers age 35 or over. A total of 74 cases of trisomy 21 was detected (overall incidence of 1.28 per 1,000 deliveries). The expected number of trisomy 21 cases in mothers younger than 35 was 45.6, which was similar to the observed number of 43. Among mothers age 35 or above, the expected and observed numbers of cases were 38.52 and 31, respectively, again a difference not statistically significant. Therefore we conclude that there is no significant racial variation in the incidence of trisomy 21, both in the younger and older age groups, when comparing Chinese to Caucasian populations. PMID:9482644

  9. 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

  10. Conjoined twins: experience in an Irish tertiary centre.

    Science.gov (United States)

    McCarthy, C M; O'Donoghue, K

    2014-04-01

    Conjoined twins are rare, with a reported incidence of 0.19 per 10,000 pregnancies in Europe. We discuss four spontaneous conjoined twin pregnancies presenting to a tertiary referral centre from 2005 to 2011, diagnosed on antenatal dating ultrasound. The cases were monitored closely throughout pregnancy by a multidisciplinary team, with serial surveillance, including ultrasound, fetal echocardiography, magnetic resonance imaging, amniocentesis and further referral to cardiology and paediatric surgery specialists, where indicated. Three female sets were determined antenatally to be not surgically separable; these infants were managed palliatively following a live birth. The male set of conjoined twins was accepted for surgical separation at Great Ormond Street Hospital, London, which was successfully performed electively at 4 months. Of interest, all four parents reside within 20 km of each other, representing a possible cluster of cases. The incidence of conjoined twins in our local population is approximately 0.63 per 10,000 over an 8-year period from 2005 to 2012. This case series highlights a cluster of conjoined twins, managed to viability and delivered in a tertiary referral centre. PMID:24484468

  11. 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.

  12. Antenatal Bartter Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    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.

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

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    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.

  14. Normal obstetric ultrasound reduces the risk of down syndrome in fetuses of older mothers

    International Nuclear Information System (INIS)

    The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45-72%), a false-positive rate of 10.6% (9.4-11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31-0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound

  15. 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

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

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

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

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

    Directory of Open Access Journals (Sweden)

    Elham SEYYED-KAVOOSI

    2015-10-01

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

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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.

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

    International Nuclear Information System (INIS)

    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.)

  1. 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

  2. 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

  3. [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

  4. 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

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

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    Viorica E Radoi

    2015-10-01

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

  6. 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

  7. 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.

  8. 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

  9. 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

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    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

  10. 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

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    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

  11. 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

  12. 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

  13. 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

  14. 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.

  15. Demographic profile of the girl child in India.

    Science.gov (United States)

    Unisa, S

    1995-01-01

    This article presents a statistical profile of the demographic and socioeconomic characteristics of female children in India during 1951-91. The population 0-14 years old increased during 1951-81. In 1991, there were 52-55 million children 0-4 years old. 40% of all women were 0-14 years old, 19% of the total population in 1991. Boys outnumbered girls at all childhood ages. Males gained more in mortality improvements than girls did over time. The decline in the 1991 sex ratio is attributed to female amniocentesis and differences in undercounts. Infant mortality was high and fluctuated prior to 1941. Rates thereafter declined below 200. Infant mortality improved considerably after the 1950s. The 1988 infant mortality rate (IMR) was 95 for males and 93 for females per 1000 live births. A higher female IMR during 1972-87 is attributed to low female status, sex bias in health care, and higher female rates of common childhood diseases. Boys are breast fed longer. Child marriage below the age of 14 years declined over time. In 1981, 93% of girls 0-14 years old were unmarried. The singulate mean age of marriage increased from 15.59 years in 1951 to 18.32 years in 1981. Literacy rates increased for both males and females during 1961-81 and increased rapidly during 1981-91. The gap between male educational levels and female educational levels was narrowing. School attendance was 62.07% among 10-14 year old boys and 37.47% among 10-14 year old girls. Kerala state was the only state where girls have very high attendance rates. School attendance among 10-14 year old children was positively correlated with higher budget allocations and the average cost per student. School attendance was negatively correlated with illiteracy among household members. In rural areas, girl's attendance was related to access to primary school facilities and roads. PMID:12158014

  16. 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.

  17. 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.

  18. 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

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

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    Liru Li

    Full Text Available The mesenchymal stem cells (MSCs derived from amniotic fluid (AF have become an attractive stem cells source for cell-based therapy because they can be harvested at low cost and avoid ethical disputes. In human research, stem cells derived from AF gradually became a hot research direction for disease treatment, specifically for their plasticity, their reduced immunogenicity and their tumor tropism regardless of the tumor size, location and source. Our work aimed to obtain and characterize human amniotic fluid mesenchymal stem cells (AFMSCs and detect their ovarian cancer tropsim in nude mice model. Ten milliliters of twenty independent amniotic fluid samples were collected from 16-20 week pregnant women who underwent amniocentesis for fetal genetic determination in routine prenatal diagnosis in the first affiliated hospital of Harbin medical university. We successfully isolated the AFMSCs from thirteen of twenty amniotic fluid samples. AFMSCs presented a fibroblastic-like morphology during the culture. Flow cytometry analyses showed that the cells were positive for specific stem cell markers CD73,CD90, CD105, CD166 and HLA-ABC (MHC class I, but negative for CD 45,CD40, CD34, CD14 and HLA-DR (MHC class II. RT-PCR results showed that the AFMSCs expressed stem cell marker OCT4. AFMSCs could differentiate into bone cells, fat cells and chondrocytes under certain conditions. AFMSCs had the high motility to migrate to ovarian cancer site but didn't have the tumorigenicity. This study enhances the possibility of AFMSCs as drug carrier in human cell-based therapy. Meanwhile, the research emphasis in the future can also put in targeting therapy of ovarian cancer.

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

    Science.gov (United States)

    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

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

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    Thelma Suely Okay

    2009-03-01

    Full Text Available INTRODUCTION: Performance variation among PCR systems in detecting Toxoplasma gondii has been extensively reported and associated with target genes, primer composition, amplification parameters, treatment during pregnancy, host genetic susceptibility and genotypes of different parasites according to geographical characteristics. PATIENTS: A total of 467 amniotic fluid samples from T. gondii IgM- and IgG-positive Brazilian pregnant women being treated for 1 to 6 weeks at the time of amniocentesis (gestational ages of 14 to 25 weeks. METHODS: One nested-B1-PCR and three one-round amplification systems targeted to rDNA, AF146527 and the B1 gene were employed. RESULTS: Of the 467 samples, 189 (40.47% were positive for one-round amplifications: 120 (63.49% for the B1 gene, 24 (12.69% for AF146527, 45 (23.80% for both AF146527 and the B1 gene, and none for rDNA. Fifty previously negative one-round PCR samples were chosen by computer-assisted randomization analysis and re-tested (nested-B1-PCR, during which nine additional cases were detected (9/50 or 18%. DISCUSSION: The B1 gene PCR was far more sensitive than the AF146527 PCR, and the rDNA PCR was the least effective even though the rDNA had the most repetitive sequence. Considering that the four amplification systems were equally affected by treatment, that the amplification conditions were optimized for the target genes and that most of the primers have already been reported, it is plausible that the striking differences found among PCR performances could be associated with genetic diversity in patients and/or with different Toxoplasma gondii genotypes occurring in Brazil. CONCLUSION: The use of PCR for the diagnosis of fetal Toxoplasma infections in Brazil should be targeted to the B1 gene when only one gene can be amplified, preferably by nested amplification with primers B22/B23.

  2. 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

  3. Molecular determination of RhD phenotype by DNA typing: clinical applications.

    Science.gov (United States)

    Cotorruelo, C; Biondi, C; Borrás, S G; Galizzi, S; Di Mónaco, R; Racca, A

    2000-11-01

    Rhesus D (RhD) typing is performed by agglutination methods; however, in clinical situations where these techniques cannot be performed, RhD DNA typing is an alternative approach. The Rh antigens are encoded by the RHD and RHCE genes. In RhD-negative individuals the RHD gene is absent or grossly deleted, but variations in the arrangement of the RH locus in different populations are emerging. The aim of this study was to analyse the gross organization of the RH genes in our population using a previously described multiplex polymerase chain reaction (PCR) method with some modifications. We studied 253 DNA samples from Argentinian blood donors, 15 samples with a reduced expression of the D antigen and 1 Dc- phenotype. We evaluated the clinical utility of this method to ascertain the RhD antigen in 10 patients with warm-type autoimmune haemolytic anaemia (AIHA) and 14 samples of amniotic fluids. All Rh phenotypes were properly characterized and no discrepancies with serological typing were found. Analyses performed in the Dc- phenotype suggest the presence of a hybrid RHCE-RHD gene. DNA typing confirmed the RhD-negative type of one AIHA sample in which serological tests were inconclusive. Foetal DNA typing correctly indicated the RhD in every foetus. VNTR (variable number of tandem repeats) and STR (short tandem repeats) analysis detected maternal contamination in two amniocentesis samples and confirmed the foetal origin of 12. This multiplex PCR strategy is suitable for RhD determination in clinical situations in which serological typing cannot be accomplished with its usual ease. PMID:11085623

  4. Amniotic fluid - a source for clinical therapeutics in the newborn?

    Science.gov (United States)

    Ekblad, Åsa; Qian, Hong; Westgren, Magnus; Le Blanc, Katarina; Fossum, Magdalena; Götherström, Cecilia

    2015-06-15

    Congenital malformations are the leading cause of deaths during the neonatal period. Infants with prenatally diagnosed soft tissue defects may benefit from readily available autologous tissue for surgical implantation perinatally. In this study we investigated the cell content of amniotic fluid (AF) and its suitability for isolation and expansion of autologous cells for clinical use. Second trimester AF was obtained at routine amniocentesis at mean gestational week+day 16+2 (n=54). To investigate the cell content, freshly harvested AF cells (AFC) were analyzed for different cell lineages by flow cytometry. To evaluate the isolation and expansion potential of AFC, isolation by plastic adherence was evaluated with three cell culture media and positive selection of CD117, CD133, CD271, and fibroblast cells were evaluated with minimum essential medium alpha culture media. Both the positive (+) and the negative (-) fractions were analyzed. Surface expression, senescence, immunogenicity, colony forming, proliferation, and differentiation capacity was examined. In the nonhematopoietic, nonendothelial fraction of freshly harvested AF (n=17), 0.13% cells were CD73(+)/CD117(+) and 0.12% CD73(+)/CD271(+). AF displayed large donor variability with varying isolation and expansion success (n=30). The proliferative, differentiative, colony forming capacity and time before senescence also showed high variance. AFC had a preference for osteogenic rather than adipogenic lineages. Most culture-expanded AFC expressed mesenchymal but not hematopoietic surface epitopes. AFC expanded in Dulbecco's modified Eagle's medium showed higher immunogenic characteristics. This study shows that AF is a heterogeneous cell source, with high donor variation. Therefore, it may not be the best source for autologous cell therapy. PMID:25668721

  5. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

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    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.

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

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    Harrild Kirsten

    2010-05-01

    Full Text Available Abstract Background An interaction between genetic susceptibility and environmental factors is thought to be involved in the aetiology of type 1 diabetes. The aim of this study was to investigate maternal and neonatal risk factors for type 1 diabetes in children under 15 years old in Grampian, Scotland. Methods A matched case-control study was conducted by record linkage. Cases (n = 361 were children born in Aberdeen Maternity Hospital from 1972 to 2002, inclusive, who developed type 1 diabetes, identified from the Scottish Study Group for the Care of Diabetes in the Young Register. Controls (n = 1083 were randomly selected from the Aberdeen Maternity Neonatal Databank, matched by year of birth. Exposure data were obtained from the Aberdeen Maternity Neonatal Databank. Conditional logistic regression was used to evaluate the association between various maternal and neonatal factors and the risk of type 1 diabetes. Results There was no evidence of statistically significant associations between type 1 diabetes and maternal age, maternal body mass index, previous abortions, pre-eclampsia, amniocentesis, maternal deprivation, use of syntocinon, mode of delivery, antepartum haemorrhage, baby's sex, gestational age at birth, birth order, birth weight, jaundice, phototherapy, breast feeding, admission to neonatal unit and Apgar score (P > 0.05. A significantly decreased risk of type 1 diabetes was observed in children whose mothers smoked at the booking appointment compared to those whose mothers did not, with an adjusted OR of 0.67, 95% CI (0.46, 0.99. Conclusions This case-control study found limited evidence of a reduced risk of the development of type 1 diabetes in children whose mothers smoked, compared to children whose mothers did not. No evidence was found of a significant association between other maternal and neonatal factors and childhood type 1 diabetes.

  7. 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

  8. 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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    Moazam, Farhat

    2004-06-01

    Although a preference for sons is reportedly a universal phenomenon, in some Asian societies daughters are considered financial and cultural liabilities. Increasing availability of ultrasonography and amniocentesis has led to widespread gender screening and selective abortion of normal female foetuses in many countries, including India. Feminists have taken widely divergent positions on the morality of this practice. Feminists from India have strongly opposed it, considering it as a further disenfranchisement of females in their patriarchal society, and have agitated successfully for legislative prohibitions. Libertarian feminists on the other hand, primarily from the United States, have argued that any prohibition of the use of this technology is a curtailment of a woman's reproductive choices and a violation of her right to make autonomous decisions regarding procreation. Using India as an illustrative case, this paper argues that in the context of what prevails in some societies, an ethical argument that hinges on the principle of autonomy as understood in the West can be problematic. Furthermore, a liberal theoretical assumption that it is always better to have more rather than fewer choices may not hold up well against the realities of life for such women. Although feminists have little disagreement concerning substantive matters, it is in the area of strategy that differences of opinion have arisen, their moral reasoning and responses shaped by the culture, ethnicity, class and race to which they belong. A view that a single 'orthodox' feminism of any variety can embody the aspiration of all women reverts to the problematic issues in the evolution of the rationalistic, individualistic, 'male' ethics against which women have consistently raised objections. PMID:15341033

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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

  18. 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).

  19. 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.

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

    International Nuclear Information System (INIS)

    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.)

  1. Monosomy 18p.

    Science.gov (United States)

    Turleau, Catherine

    2008-01-01

    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. PMID:18284672

  2. Monosomy 18p

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Yu-Jen Chang

    Full Text Available Amniotic fluid stem cells (AFSCs are multipotent stem cells that may be used in transplantation medicine. In this study, AFSCs established from amniocentesis were characterized on the basis of surface marker expression and differentiation potential. To further investigate the properties of AFSCs for translational applications, we examined the cell surface expression of human leukocyte antigens (HLA of these cells and estimated the therapeutic effect of AFSCs in parkinsonian rats. The expression profiles of HLA-II and transcription factors were compared between AFSCs and bone marrow-derived mesenchymal stem cells (BMMSCs following treatment with γ-IFN. We found that stimulation of AFSCs with γ-IFN prompted only a slight increase in the expression of HLA-Ia and HLA-E, and the rare HLA-II expression could also be observed in most AFSCs samples. Consequently, the expression of CIITA and RFX5 was weakly induced by γ-IFN stimulation of AFSCs compared to that of BMMSCs. In the transplantation test, Sprague Dawley rats with 6-hydroxydopamine lesioning of the substantia nigra were used as a parkinsonian-animal model. Following the negative γ-IFN response AFSCs injection, apomorphine-induced rotation was reduced by 75% in AFSCs engrafted parkinsonian rats but was increased by 53% in the control group after 12-weeks post-transplantation. The implanted AFSCs were viable, and were able to migrate into the brain's circuitry and express specific proteins of dopamine neurons, such as tyrosine hydroxylase and dopamine transporter. In conclusion, the relative insensitivity AFSCs to γ-IFN implies that AFSCs might have immune-tolerance in γ-IFN inflammatory conditions. Furthermore, the effective improvement of AFSCs transplantation for apomorphine-induced rotation paves the way for the clinical application in parkinsonian therapy.

  4. 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

  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.

    Directory of Open Access Journals (Sweden)

    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.

  6. 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

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. A Williams syndrome patient with a familial t(6;7) translocation and deletion of the elastin gene

    Energy Technology Data Exchange (ETDEWEB)

    Pober, B.R.; Gibson, L.H.; Yang-Feng, T.L. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

    1994-09-01

    Discovery of a {open_quotes}balanced{close_quotes} reciprocal translocation [46,XX,t(6;7)(q11.2;q11.23)] on routine amniocentesis prompted clinical and cytogenetic study of additional family members. The same t(6;7) translocation was found in the clincally normal father and in a sibling with Williams syndrome (WS). WS had been diagnosed previously according to clinical criteria including distinctive facial features, supravalvar aortic stenosis requiring surgical repair, dental abnormalties and developmental delay. A clinically normal female was delivered and the translocation was confirmed with a cord blood specimen. Hemizygosity for the gene, elastin, (which has been mapped to the chromosome 7 translocation breakpoint, 7q11.23, in this family) appears to be a cause of WS. We therefore investigated whether the t(6;7) in the phenotypically normal father represented more than a simple reciprocal translocation. FISH using a chromosome 7 specific library revealed no differences between the cytogenetically identical, yet phenotypically distinct, father and son. Hybridization with a cosmid MR127D4 containing elastin sequence showed that the WS patient was missing one allele from the derivative chromosome 7 whereas both his mother and father had two copies of the elastin gene. This family indicates that the de novo loss of one copy of the elastin gene produces the recognizable phenotype of Williams syndrome. Molecular characterization (with additional probes) of the extent of this de novo deletion near the translocation breakpoint is in progress. This information will be valuable for defining the WS-critical region and will lead to a better understanding of the molecular basis for WS.

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

    OpenAIRE

    陳仲妮 Chung-Ni Chen

    2009-01-01

    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 be...

  11. O tratamento da insuficiência istmocervical com protrusão de membranas Management of cervical incompetence with prolapsed membranes

    Directory of Open Access Journals (Sweden)

    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

  12. 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.

  13. [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

  14. The Clinical Significance of Digital Examination-Indicated Cerclage in Women with a Dilated Cervix at 14 0/7 - 29 6/7 Weeks

    Directory of Open Access Journals (Sweden)

    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.

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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

  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. 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

  2. 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.

  3. 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.

  4. 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.

  5. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  6. 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.

  7. A review of trisomy X (47,XXX

    Directory of Open Access Journals (Sweden)

    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

  8. Sex preference and its effect on family size and child welfare.

    Science.gov (United States)

    Williamson, N E

    1982-12-01

    Sex discrimination begins before birth in many parts of the world. Many cultures have myths about how parents can increase their chances of having a son. There is now a test, anmiocentesis, that provides the scientific method for determining sex before birth. The text involves examining the chromosomes in the amniotic fluid. Until now little advantage has been taken of this knowledge since amniocentesis is uncommon around the world. There are recent news reports that assert that in India female fetuses are being aborted. The same has been rumored for China. Sex selection may become more widespread as the technology of sex detection improves. Currently, an abortion for the purpose of sex selection must be performed in the 2nd trimester of pregnancy because the test can be done only after the 3rd or 4th month of pregnancy. A technology which permits very early sex detection could, when combined with early menstrual regulation, have widespread ramifications, particularly since the preference for sons is so widespread. Son preference is common throughout the world and is unusually strong in Arab countries and in South Asia. It is fairly mild in Latin America and Southeast Asia. In Africa sex preference has not become a public issue for fertility is so high. Policymakers in countries such as Bangladesh, China, India, Pakistan, South Korea, and Taiwan have recently become concerned about sex preference for their objective is to reduce the population growth rates of their countries. Among countries with son preference China is unusual in that the government has tried to undermine the basis for son preference. It has encouraged families with an only daughter to adopt a son-in-law and have him take the family name. It has tried to equalize women's position in marriage and the economy. The policymakers in other countries assume that son preference will diminish with modernization. Family planning workers in most Asian countries assume that sex preference affects family size

  9. 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。

  10. 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。

  11. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  12. 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.

  13. Diagnóstico molecular de cromosomopatías fetales en 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.

  14. 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

  15. 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.

  16. A gender more vulnerable.

    Science.gov (United States)

    Basu, A M

    1991-12-01

    The greater risks of death faced by females in India are discussed in terms of the differences between the norther and southern regions of India, culture compounding inequality, and intervention strategies. When the assumption of a sex ratio of equality of 950/1000 is make, every region in the north is below (ranging from 874-913), and every region in the south above (ranging from 960-1040). The same north/south division remains for the male probability of dying by age 5 as a proportion of female probability (rural) in 1981. 2 explanations are given for female's greater survival changes in the south. 1) Marriage and kinship systems are different. Girls in the north typically marry earlier; many times marriage is to a stranger in a distant area so that family contact is reduced. The consequence is a reduction in female autonomy and status in both her father's and her husband's home. 2) Economic roles are different. Research has revealed that male/female survival equality occurs in states with high female labor force participation rates. At the micro level, working women's children tend to have more equal death rates. Physical devaluation is not only evidenced in death and survival, but also in the disparity in schooling. The states with the greatest gender differentials in mortality also have the greatest differences in literacy. This has been interpreted as household resources are disproportionately invested in males. Cultural inhibitions about the physical freedoms of girls also are involuntary reasons for the sex differential. The example is given of the apprehension generated for a male doctor's examination of a girl, a coeducational school environment, or a school located a distance from the home. There is the tradition of female seclusion and inhibition. In combination with the dependence on sons to limit the choices open to women, and to limit the growth and development, the product is inequality. Amniocentesis has lead to the increase in numbers of sex

  17. 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.

  18. 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

  19. 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

  20. 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

  1. 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

  2. 「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

  3. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

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    Magoulas Pilar L

    2012-09-01

    Full Text Available Abstract Systemic primary carnitine deficiency (CDSP is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, elevated creatine kinase (CK, and cardiomyopathy in childhood; or cardiomyopathy, arrhythmias, or fatigability in adulthood. The diagnosis can be suspected on newborn screening, but is established by demonstration of low plasma free carnitine concentration (SLC22A5 gene. The incidence of CDSP varies depending on ethnicity; however the frequency in the United States is estimated to be approximately 1 in 50,000 individuals based on newborn screening data. CDSP is caused by recessive mutations in the SLC22A5 gene. This gene encodes organic cation transporter type 2 (OCTN2 which transport carnitine across cell membranes. Over 100 mutations have been reported in this gene with the c.136C > T (p.P46S mutation being the most frequent mutation identified. CDSP should be differentiated from secondary causes of carnitine deficiency such as various organic acidemias and fatty acid oxidation defects. CDSP is an autosomal recessive condition; therefore the recurrence risk in each pregnancy is 25%. Carrier screening for at-risk individuals and family members should be obtained by performing targeted mutation analysis of the SLC22A5 gene since plasma carnitine analysis is not a sufficient methodology for determining carrier status. Antenatal diagnosis for pregnancies at increased risk of CDSP is possible by molecular genetic testing of extracted DNA from chorionic villus sampling or amniocentesis if both mutations in SLC22A5 gene are known. Once the diagnosis of CDSP is established in an individual, an echocardiogram, electrocardiogram, CK concentration

  4. 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

  5. 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

  6. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

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    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  7. Familial adenomatous polyposis

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    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.

  8. 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

  9. Prevenção da deficiência mental: conhecimento e percepção dos profissionais de saúde Prevention of mental retardation: knowledge and perception by health professionals

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    Ana Maria Silveira Machado de Moraes

    2006-03-01

    alternative on prevalence; 25% did not know how the genome contributes to etiology; 37% were unaware of prevention for mental disability; 28% were not confident in providing orientation on the teratogenic effect of ethanol; 35% demonstrated insecurity in orienting patients on amniocentesis. The data showed that participants had an unsatisfactory perception of the relevance of mental disability within the overall population disease profile, and that they need more information on the respective genetic and environmental issues.

  10. 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.

  11. 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

  12. 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

  13. 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

  14. 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.

  15. 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

  16. 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,

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. Hidropisia fetal: análise de 80 casos Fetal hydrops: analysis of 80 cases

    Directory of Open Access Journals (Sweden)

    André Ricardo Araujo da Silva

    2005-03-01

    group (mean = 28.7 years (p=0.03, but gestational age at delivery was similar in both groups (mean = 33.6 weeks in the immune group and 33.1 weeks in the nonimmune group (p=0.66. Amniocentesis and blood transfusion in utero were carried out more frequently in the immune group (p<0.001 and perinatal mortality was 53.8% in the immune group and 68.6% in the nonimmune group (p=0.47. Complementary research of IgG anti-parvovirus B19 antibodies was carried out in 41 of 67 cases of nonimmune hydrops, with 16 being positive for the presence of anti-B19 IgG antibodies. CONCLUSION: nonimmune etiology was the most common form of presentation of hydrops fetalis in our study. Perinatal mortality of this entity is still high and a substantial number of cases had no identified cause. Characterization of fetal karyotype and performance of specific parvovirus B19 serology could increase causal identification of nonimmune hydrops classified as idiopathic.

  5. Comparação dos Métodos para Diagnóstico da Toxoplasmose Congênita A Comparison between Methods for the Diagnosis of Congenital Toxoplasmosis

    Directory of Open Access Journals (Sweden)

    Flávia Cipriano Castro

    2001-06-01

    by amniocentesis guided by ultrasound to obtain amniotic fluid for PCR and mice inoculation. The mothers were treated with spiramycin throughout pregnancy; when fetal infection was demonstrated, pyrimethamine and sulfadiazine were added to the regimen. The placentas were processed for histologic examination. The infants were followed for a period that varied from three to 23 months for the confirmation or exclusion of congenital toxoplasmosis. Results: association measures such as sensitivity, specificity and predictive values were calculated for PCR in the amniotic fluid, detection of the parasite through mice inoculation and placental histology and showed the following results: PCR values of sensitivity = 66.7% and specificity = 87.1%; the respective values for mice inoculation were 50 and 100% and for the placental histology were 80 and 66.7%. Conclusion: although PCR should not be used alone for the prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

  6. 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

  7. 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

  8. 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.

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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

  2. 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