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Updated: Apr 30, 2026
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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[Combined first trimester screening and cell-free fetal DNA - “next generation screening”]
K O Kagan1, B Eiben2, P Kozlowski3
1Department of obstetrics and gynaecology, University of Tuebingen.
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)
|April 26, 2014
Summary
Noninvasive prenatal testing (NIPT) using cell-free fetal DNA shows high accuracy for aneuploidy screening. Combining NIPT with first-trimester screening offers a balanced approach for improved detection rates and reduced false positives.
Area of Science:
- Maternal-fetal medicine
- Genetics
- Biotechnology
Background:
- Prenatal screening for aneuploidy has advanced significantly.
- First-trimester combined screening is the current standard.
- Cell-free fetal DNA (cffDNA) testing, or noninvasive prenatal testing (NIPT), represents a paradigm shift.
Purpose of the Study:
- To evaluate the effectiveness of NIPT in prenatal screening for aneuploidies.
- To explore the potential of combining NIPT with first-trimester screening.
- To discuss the future scope and ethical considerations of NIPT.
Main Methods:
- Review of studies on NIPT for trisomy 21, 18, and 13.
- Analysis of detection and false-positive rates for NIPT and first-trimester screening.
- Proposal of a contingent screening model combining both methods.
Main Results:
- NIPT demonstrates high detection rates for trisomy 21 (99%), 18 (98%), and 13 (86%).
- First-trimester screening assesses risks for aneuploidy and pregnancy complications.
- A contingent model combining both could achieve ~97% detection with a ~1% false-positive rate.
Conclusions:
- NIPT is a highly effective screening tool but not diagnostic.
- Combining NIPT with first-trimester screening offers a promising strategy for improved prenatal diagnostics.
- Future applications of NIPT may expand to whole-genome analysis, necessitating ethical considerations.
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