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Related Experiment Video

Updated: Apr 27, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Noninvasive prenatal testing.

Jane Woolcock1, Rosalie Grivell

  • 1BSc, BMus, BMBS (Hons), FRANZCOG, DDU, Staff Specialist, Obstetrics and Gynaecology, Women's and Children's Hospital, Adelaide, and Senior Lecturer, University of Adelaide, SA.

Australian Family Physician
|July 10, 2014
PubMed
Summary

Noninvasive prenatal testing (NIPT) offers highly accurate Down syndrome screening via maternal blood tests from 12 weeks gestation. However, concerns exist regarding cost, counseling, and potential missed structural abnormalities.

Area of Science:

  • Maternal-fetal Medicine
  • Genetics
  • Prenatal Diagnostics

Background:

  • Noninvasive prenatal testing (NIPT) has revolutionized aneuploidy screening.
  • NIPT utilizes a simple maternal blood test for highly accurate fetal Down syndrome detection (≥99.5% accuracy, 0.2% false-positive rate).

Purpose of the Study:

  • To detail emerging NIPT methods.
  • To clarify NIPT's role in antenatal screening.
  • To support informed decision-making for healthcare providers and patients.

Main Methods:

  • Review of current noninvasive prenatal testing technologies.
  • Analysis of NIPT integration into existing antenatal screening protocols.

Main Results:

  • NIPT provides early Down syndrome results from 12 weeks gestation.

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  • High reassurance rates for Down syndrome are achievable early in pregnancy.

    • Conclusions:

    • Early reassurance for Down syndrome is a key benefit of NIPT.
    • Potential drawbacks include inadequate pre-test counseling and the risk of overlooking structural abnormalities if 12-week ultrasounds are bypassed.
    • The high cost of NIPT presents a barrier for many individuals and families.