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

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[Non-invasive prenatal testing: challenges for future implementation].

Lidewij Henneman¹, G C M L Lieve Page-Chrisiaens, Dick Oepkes

¹VU medisch centrum, afd. Klinische Genetica en EMGO+ Instituut, Amsterdam.

Nederlands Tijdschrift Voor Geneeskunde

|November 5, 2015

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The non-invasive prenatal test (NIPT) accurately screens for fetal trisomies 21, 18, and 13. Its implementation has reduced invasive testing and miscarriage risks, potentially replacing older screening methods.

Area of Science:

Prenatal diagnostics
Genetics
Maternal-fetal medicine

Background:

Non-invasive prenatal testing (NIPT) offers a safe method to screen for common fetal chromosomal abnormalities.
In the Netherlands, NIPT has been available since April 2014 for high-risk pregnancies or as an alternative to invasive procedures.

Purpose of the Study:

To evaluate the impact and potential of NIPT in prenatal screening programs.
To assess NIPT's role as an alternative to invasive diagnostic tests like chorionic villous sampling and amniocentesis.

Main Methods:

Analysis of NIPT implementation data within the TRIDENT project.
Comparison of NIPT usage against traditional first-trimester combined testing and invasive procedures.

Main Results:

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NIPT demonstrates high accuracy in detecting trisomies 21, 18, and 13.
A significant decrease in the utilization of invasive prenatal testing has been observed since NIPT's introduction.
NIPT provides a safer alternative, reducing procedure-related miscarriage risks.

Conclusions:

NIPT is a valuable tool that can potentially replace the combined test in prenatal screening.
Expansion of NIPT to screen for additional conditions is feasible.
Continued emphasis on comprehensive counseling is crucial for informed reproductive choices.