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Related Concept Videos

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...
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...

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Is There an Alternative "Advanced Maternal Age" Threshold for Recommendation of Invasive Prenatal Testing?

Idit Maya1, Liat Salzer Sheelo2, Dana Brabbing-Goldstein2

  • 1Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC
|March 30, 2025
PubMed
Summary

This study found no specific maternal age for recommending invasive prenatal testing. All pregnant individuals should have access to this testing, regardless of age.

Keywords:
chromosomal microarray analysiscopy number variantsinvasive testingmaternal age

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Reproductive medicine

Background:

  • Maternal age is a traditional factor for recommending invasive prenatal testing.
  • The utility of specific age thresholds for microarray analysis is debated.

Purpose of the Study:

  • To determine an appropriate maternal age threshold for recommending invasive prenatal testing.
  • To evaluate the rate of clinically significant microarray findings by maternal age.

Main Methods:

  • Retrospective cohort study of 7033 prenatal microarray analyses.
  • Analysis of clinically significant microarray findings in pregnancies with normal fetal ultrasound, stratified by maternal age.
  • Receiver operating characteristics (ROC) analysis to identify optimal age cut-offs.

Main Results:

  • 1.53% (108/7033) of cases had clinically significant microarray results.
  • ROC analysis did not identify a specific maternal age cut-off for recommending invasive testing.
  • This lack of a defined threshold persisted even after excluding common autosomal trisomies detectable by non-invasive methods.

Conclusions:

  • A specific maternal age threshold for invasive prenatal testing is not supported by current data.
  • Invasive prenatal testing, particularly with microarray analysis, should be offered to all pregnant individuals.
  • Public funding for invasive prenatal testing should be considered to ensure equitable access.