OP03.10: Prenatal diagnosis vs 1st trimester screening of Trisomy 21 among pregnant women aged 35 or more

2014 ◽  
Vol 44 (S1) ◽  
pp. 70-70
Author(s):  
T. Ghi ◽  
T. Arcangeli ◽  
F. Ravennati ◽  
G. Salsi ◽  
E. Montaguti ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Trimester Screening

Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more

2014 ◽  
Vol 28 (6) ◽  
pp. 674-678 ◽  
Author(s):  
Tullio Ghi ◽  
Tiziana Arcangeli ◽  
Francesca Ravennati ◽  
Ginevra Salsi ◽  
Elisa Montaguti ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening

Real possibilities of prenatal diagnosis of translocation form Down’s syndrome

2018 ◽  
Author(s):  
O.L. Galkina, E.V. Vlasenko, N.B. Shmakova, O.V. Sahar
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Perinatal Outcome ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Ultrasound Evaluation ◽  
Prenatal Examination

Objective: analyses of real possibilities of prenatal diagnosis of translocation form Down’s syndrome. Materials: 243 cases of Down's syndrome were diagnosed within 15 years, translocation variant of trisomy 21 was found in 5 cases (2 %). The article provides the analyses of the results of prenatal examination of the fetuses with the translocation form of Down's syndrome. Results: in all 5 cases abnormal biochemical screening and ultrasound markers of chromosomal abnormalities were recorded. Prenatal karyotyping was carried out in one observation. In 4 cases cytogenetic diagnosis was performed postnatally. The perinatal outcome is known in all the observations. Conclusion: Prenatal diagnosis of the translocation form of Down's syndrome is possible in most cases, provided that the screening time of the examination of pregnant women is met and the indications for an expert ultrasound evaluation of the fetus using the latest technology are broadened

The Value of Ultrasonography Screening Trisomy 21 during the Second and Third Trimesters of Gestation

2014 ◽  
Vol 668-669 ◽  
pp. 1581-1584
Author(s):  
Yu Ping Pan
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Detection Rate ◽  
Risk Group ◽  
Late Pregnancy ◽  
High Risk Group ◽  
Age Group ◽  
Second Trimester ◽  
The Relationship

Objective To investigate the value of ultrasonography screening trisomy 21during the second and third trimesters. Methods Amniocentesis and cordocentesis were performed on 3110 and 187pregnant women respectively with indications for prenatal diagnosis to detect karyotype of the fetus during second trimester and late pregnancy, The detection rate of trisomy 21 was compared in pregnant women of different indications. To analyze the relationship between the ultrasonography abnormalities and trisomy 21. Results In chromosomal karyotypes analysis of 3110 pregnant women by amniocentesis, 41 trisomy 21 were detected, The detection rate of trisomy 21 was 1.32%. There were 98 in 3110 pregnant women with ultrasonography abnormalities, 6 trisomy 21 were found within them and the detection rate was 6.12%, the detection rate of trisomy 21 detected by ultrasound (6.12% ) was higher than the Down,s syndrome high risk group (0.98%), advanced age group (0.58%) Within 187 pregnant women of chromosomal karyotypes analysis by cordocentesis, 9 trisomy 21 were detected and the detection rate of trisomy 21 was 4.81% . There were 128 in 187 pregnant women with ultrasonography abnormalities, 5 trisomy 21 were found within them and the detection rate of trisomy 21 was 3.91% . (P<0. 05). Conclusions During the second and third trimesters, ultrasonography has great value .

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

scholarly journals Amniocentesis in HIV Pregnant Women: 16 Years of Experience

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Mafalda Simões ◽  
Catarina Marques ◽  
Ana Gonçalves ◽  
Ana Paula Pereira ◽  
Joaquim Correia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Antiretroviral Therapy ◽  
Pregnant Women ◽  
Vertical Transmission ◽  
Highly Active Antiretroviral Therapy ◽  
First Trimester ◽  
Epidemiologic Studies ◽  
Highly Active ◽  
Trimester Screening ◽  
Group B

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

Prenatal diagnosis of Duchenne muscular dystrophy and cytogenetic analysis in 303 Chinese families

2020 ◽  
Author(s):  
Mengmeng Li ◽  
Fengxia Yao ◽  
Na Hao ◽  
Weimin Zhang ◽  
Jing Zhou ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pregnant Women ◽  
Gene Mutation ◽  
Trisomy 21 ◽  
Karyotype Analysis ◽  
Chinese Families ◽  
Dmd Gene

Abstract Background: Duchenne muscular dystrophy (DMD) has showed a wide spectrum of mutations in the dystrophin gene including exon deletions, duplications and small mutations. This retrospective study was to supply information of the DMD mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD genetic counselling and prenatal diagnosis.Methods: In this retrospective study, 305 pregnancies in 303 pregnant women who has a birth history of DMD patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification (MLPA) followed by Sanger sequencing between 2014 and 2018. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results: The detection rate of DMD gene mutation in 303 probands was 97.7% with 7 families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). 204 pregnant women did carrier testing among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found 3 abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis.Conclusions: The distribution and mutation profile of 303 probands and 305 fetuses were demonstrated. Given the large samples provided in this study, the information is essential for genetic counselling and prenatal diagnosis in DMD families in China.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

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