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

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

scholarly journals Maternal age and risk of early neonatal mortality: a national cohort study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yoo-Na Kim ◽  
Dong-Woo Choi ◽  
Dong Seop Kim ◽  
Eun-Cheol Park ◽  
Ja-Young Kwon
Keyword(s):  
Neonatal Mortality ◽  
Maternal Age ◽  
Additive Model ◽  
Mortality Data ◽  
Multiple Birth ◽  
Underserved Area ◽  
Early Neonatal Mortality ◽  
Age Related ◽  
Related Risk ◽  
Increased Risk

AbstractAdvanced maternal age (AMA) is a growing trend world-wide and is traditionally defined as childbearing in women over 35 years of age. The purpose of our study was to determine the maternal age group within the Korean population, in which the risk of early neonatal mortality is increased. Korean birth and mortality data from 2011 to 2015 were used to estimate the influence of maternal age on the risk of early neonatal mortality. A Poisson regression was used for the analysis of multiple clinical variables such as year of delivery, maternal age, gestational age, infant gender, birth weight, multiple birth, parity, and socioeconomic variables. Furthermore, a generalized additive model was used to determine the maternal age at which the risk for neonatal mortality increases. We included 2,161,908 participants and found that 49.4% of mothers were 30–34 years of age at delivery. The proportion of mothers aged 35 and above increased over the 5-year analysis period. A maternal age lower than 29 years or higher than 40 years was associated with a relatively higher risk of early neonatal mortality. The trend and magnitude of the age-related risk on early neonatal mortality were independent of maternal socioeconomic factors such as living in an obstetrically underserved area, education level, and employment status. Furthermore, we showed that the risk for early neonatal mortality was higher until the maternal age of 28. However, there were no significant changes in the risk between the age of 35 and 40 years. According to recent national-wide data, age-related risk for early neonatal mortality is only apparent for mothers ≥ 40 years old whereas, age between 35 and 39 are not at increased risk for early neonatal mortality, despite being classified as AMA.

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.

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.

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