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Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

Thomas Liehr1, Angela Lauten2, Uwe Schneider2

  • 1Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.

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|January 29, 2020
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Summary

Noninvasive prenatal testing (NIPT) offers insights into unborn life but is a risk estimation, not a diagnostic test. Comprehensive genetic counseling is crucial due to potential false security from normal results.

Keywords:
Loss of pregnanciesNoninvasive prenatal testingReasoningReliabilitySonography

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Area of Science:

  • Obstetrics
  • Genetics
  • Prenatal Diagnostics

Background:

  • Noninvasive prenatal testing (NIPT) is increasingly popular in obstetrics.
  • Current understanding suggests invasive testing does not increase pregnancy loss risk.
  • NIPT does not reduce the incidence of unintentionally induced abortions.

Purpose of the Study:

  • To critically review the limitations and risks associated with noninvasive prenatal testing (NIPT).
  • To highlight the nature of NIPT as a risk estimation tool rather than a diagnostic method.
  • To emphasize the necessity of comprehensive genetic counseling for expectant families.

Main Methods:

  • Review of existing literature on noninvasive prenatal testing.
  • Analysis of NIPT's performance, failure rates, and scope of detection.
  • Comparison of NIPT with other prenatal testing methodologies.

Main Results:

  • NIPT analyzes placental DNA, not directly fetal DNA.
  • NIPT has a failure rate of 2-6% across cases.
  • NIPT detects only about 50% of chromosomal abnormalities, with trisomy 21 being a primary focus.
  • A 'normal' NIPT result can provide a false sense of security.

Conclusions:

  • NIPT is a valuable tool for obtaining information about fetal chromosomal abnormalities from maternal blood.
  • NIPT remains a risk assessment test with inherent limitations.
  • Thorough genetic counseling is essential before offering NIPT to explain its advantages, disadvantages, and limitations.