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Related Concept Videos

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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Related Experiment Video

Updated: May 10, 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

Non-invasive prenatal testing for aneuploidy: current status and future prospects.

P Benn1, H Cuckle, E Pergament

  • 1Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA. benn@nso1.uchc.edu

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|June 15, 2013
PubMed
Summary

Non-invasive prenatal testing (NIPT) revolutionizes prenatal screening by analyzing cell-free DNA for aneuploidy. While effective for certain conditions in high-risk pregnancies, it requires confirmation and faces challenges in cost-effectiveness and counseling.

Keywords:
Down syndromeamniocentesisaneuploidychorionic villus samplingfetal DNAmaternal plasmascreeningsequencingtrisomy

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) in maternal plasma is transforming prenatal screening.
  • Established screening methods and invasive diagnostic procedures have limitations in scope and risk.
  • The need for accurate, safe, and comprehensive prenatal genetic analysis is paramount.

Purpose of the Study:

  • To review the current state of NIPT for aneuploidy.
  • To compare NIPT with established prenatal screening and diagnostic technologies.
  • To discuss the capabilities, limitations, cost-effectiveness, and ethical considerations of NIPT.

Main Methods:

  • Review of current NIPT methodologies, including whole-genome sequencing, targeted sequencing, and SNP-based analysis.
  • Analysis of clinical trial data demonstrating NIPT efficacy for specific aneuploidies.
  • Evaluation of cost-effectiveness models for universal versus contingent NIPT implementation.

Main Results:

  • NIPT shows high efficacy for Down, Edwards, and potentially Patau syndromes in high-risk populations.
  • Contingent NIPT (used after conventional screening) is cost-effective, unlike universal NIPT.
  • Positive NIPT results necessitate confirmation via invasive diagnostic techniques.

Conclusions:

  • NIPT is a powerful tool for prenatal aneuploidy screening, particularly for common trisomies.
  • Advanced NIPT methods utilizing SNP data offer potential for detecting uniparental disomy, triploidy, and consanguinity.
  • Challenges remain in expanding NIPT's scope to detect a broader range of abnormalities and in providing adequate genetic counseling.