Related Experiment Video

Updated: May 31, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Impact of the maternal age-related risk in first-trimester combined screening for trisomy 21

H Abele1, K Lüthgens, M Hoopmann

  • 1Department of Obstetrics and Gynaecology, University of Tübingen, Germany.

Fetal Diagnosis and Therapy
|June 25, 2011
PubMed

Insights

Maternal age significantly improves first-trimester screening for trisomy 21, especially in older women. Including maternal age in combined screening enhances detection rates while maintaining a low false-positive rate.

Area of Science:

  • Prenatal diagnostics
  • Maternal-fetal medicine
  • Genetics

Background:

  • First-trimester combined screening is crucial for detecting trisomy 21.
  • Maternal age is a known risk factor for chromosomal abnormalities.
  • Optimizing screening protocols is essential for accurate prenatal diagnosis.

Purpose of the Study:

  • To evaluate the impact of maternal age-related risk on first-trimester combined screening for trisomy 21.
  • To compare screening strategies with and without maternal age in trisomy 21 detection.

Main Methods:

  • Prospective study of 38,603 pregnancies.
  • Combined screening using fetal nuchal translucency (NT) thickness, maternal serum PAPP-A, and free β-hCG.
  • Risk assessment incorporated maternal age, NT, and serum markers.

Main Results:

  • Overall detection rate for trisomy 21 was 82.6% with maternal age and 79.8% without, at a 3% false-positive rate.
  • In women aged 35 and older, detection rates increased from 77.1% to 94.3% when maternal age was included.
  • No significant difference in detection rates was observed in women younger than 35.

Conclusions:

  • Incorporating maternal age into first-trimester screening increases the overall trisomy 21 detection rate by approximately 3%.
  • Maternal age inclusion helps maintain a low false-positive rate in younger women and significantly boosts detection in older women.
Abstract

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Concept Videos

Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...