A 17-years analysis of terminations of pregnancy ≥14 weeks of gestation in a German level 1 perinatal center

2019 ◽  
Vol 47 (8) ◽  
pp. 847-856
Author(s):  
Verena I.I. Kiver ◽  
Judith Altmann ◽  
Julian Kamhieh-Milz ◽  
Alexander Weichert
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Large Dataset ◽  
Medical Diagnoses ◽  
The Past ◽  
Major Vessel ◽  
Perinatal Center ◽  
Level 1 ◽  
Psychological Reasoning

Abstract Background When discussing termination of pregnancy (TOP) after the first trimester, the main foci are the ethics and psychological reasoning/consequences. In daily clinical practice, physicians are often faced with affected women querying the frequency of their condition(s) and decisions made by women in similar situations. The present study aimed to provide an overview of a representable number of such cases. Methods Cases of TOP beyond 14 + 0 weeks of gestation were collected between January 2000 and December 2017 in the Department of Obstetrics. Fetal and/or maternal medical causes leading to TOP were extracted and presented. Results A total of 1746 TOPs ≥14 + 0 weeks were performed. Reasons leading to TOP were subcategorized into 23 groups. The main medical diagnoses were trisomy 21 (15.5%), neurological malformations (11.0%), and cardiac and major vessel malformations (7.9%). There was no statistical difference concerning maternal age or gravida/para between the groups. The average gestational age (GA) was 21.0 weeks, varying between 16.2 and 24.2 weeks in the 23 subgroups, with an average of 23.6% per year of TOPs after viability. Conclusion An overview of the various causes of TOP and their frequency within a large dataset are shown here. According to data provided by the German Federal Statistical Office, the overall number of TOPs has declined over the past two decades; however, the number and percentage of TOPs beyond viability have increased continuously in Germany. Only early detection of maternal and fetal constitution can prevent a portion of TOP after viability.

The maternal age-related first trimester risks for trisomy 21, 18 and 13 based on Danish first trimester data from 2005 to 2014

2016 ◽  
Vol 36 (7) ◽  
pp. 643-649 ◽  
Author(s):  
Tanja Schlaikjaer Hartwig ◽  
Steen Sørensen ◽  
Finn Stener Jørgensen
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Age Related

Impact of the Maternal Age-Related Risk in First-Trimester Combined Screening for Trisomy 21

2011 ◽  
Vol 30 (2) ◽  
pp. 135-140 ◽  
Author(s):  
H. Abele ◽  
K. Lüthgens ◽  
M. Hoopmann ◽  
K.O. Kagan
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Age Related ◽  
Related Risk

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 Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 501
Author(s):  
Ivonne Bedei ◽  
Aline Wolter ◽  
Axel Weber ◽  
Fabrizio Signore ◽  
Roland Axt-Fliedner
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Screening Program ◽  
Diagnostic Yield ◽  
Screening Method ◽  
First Trimester ◽  
Diagnostic Methods ◽  
Trisomy 13

In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has been applied since the 1960s by using maternal age as the risk parameter. Since then, several advances have been made. First trimester screening, combining maternal age, maternal serum parameters and ultrasound findings, emerged in the 1990s with a detection rate (DR) of around 90–95% and a false positive rate (FPR) of around 5%, also looking for trisomy 13 and 18. With the development of high-resolution ultrasound, around 50% of fetal anomalies are now detected in the first trimester. Non-invasive prenatal testing (NIPT) for trisomy 21, 13 and 18 is a highly efficient screening method and has been applied as a first-line or a contingent screening approach all over the world since 2012, in some countries without a systematic screening program. Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chromosome anomalies (SCAs), rare autosomal anomalies (RATs) and microdeletions and duplications, is offered by different providers to an often not preselected population of pregnant women. Most of the research in the field is done by commercial providers, and some of the tests are on the market without validated data on test performance. This raises difficulties in the counseling process and makes it nearly impossible to obtain informed consent. In parallel with the advent of new screening technologies, an expansion of diagnostic methods has begun to be applied after invasive procedures. The karyotype has been the gold standard for decades. Chromosomal microarrays (CMAs) able to detect deletions and duplications on a submicroscopic level have replaced the conventional karyotyping in many countries. Sequencing methods such as whole exome sequencing (WES) and whole genome sequencing (WGS) tremendously amplify the diagnostic yield in fetuses with ultrasound anomalies.

scholarly journals Combined First-trimester Screening of Trisomy 21 in Women of Different Ages in Southwest Iran

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Mehran Dorostghoal ◽  
Mojgan Barati ◽  
Mojgan Harfsheno
Keyword(s):  
High Risk ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Screening Method ◽  
First Trimester ◽  
First Trimester Screening ◽  
Cross Sectional ◽  
Different Ages ◽  
Trimester Screening ◽  
Southwest Iran

Background: There is evidence that the incidence of trisomy 21 has a direct linear relationship with maternal age, and older women are at a higher risk for giving birth to neonates with Down syndrome (DS). Objectives: The present study aimed to evaluate the performance and effectiveness of combined first-trimester screening (FTS) for DS in women of different ages in Southwest Iran. Methods: In this cross-sectional study, FTS was conducted on 7192 pregnant women in the 11th to 13th week of gestational age, referred to the Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Amniocentesis and cytogenetic analysis were performed in all women with an estimated risk of 1 in 100 and above. Results: The FTS detection rate of DS was 83.3%, with the false positive rates of 2.1% and 13.5% in young women and those over 35 years, respectively. A significant correlation (r = 0.137, P < 0.001) was observed between the high risk of DS (1:100) and maternal age. The high risk of DS was found to be higher in women over 35 years of age than those under 35 years old (6.67% vs. 1.95%). Total DS prevalence was 2.64 per 1000 cases. The prevalence of DS in women under and over 35 years of age was 1.95 and 6.67 per 1000 pregnancies, respectively. Conclusions: First-trimester screening is an effective method for estimating the risk of DS in women under or over 35 years of age. Although an advanced maternal age is associated with a higher prevalence of DS, clinicians should recommend FTS as the first-line screening method regardless of maternal age.

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