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Related Experiment Video

Updated: Jan 5, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

[Update on non invasif prenatal screening].

Wawrzyniec Rieder¹, Yvan Vial¹

¹Service de gynécologie-obstétrique, Département femme-mère-enfant, CHUV, 1011 Lausanne.

Revue Medicale Suisse

|October 24, 2019

Summary

This summary is machine-generated.

Antenatal screening for trisomy 21 has evolved with new non-invasive tests. This review covers updated strategies and counseling practices, including cell-free fetal DNA testing.

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FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

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Area of Science:

Genetics
Maternal-Fetal Medicine

Background:

Antenatal screening for trisomy 21 has historically relied on invasive procedures.
The advent of non-invasive prenatal testing (NIPT) has significantly altered screening paradigms.

Purpose of the Study:

To review the fundamental concepts of antenatal screening for trisomy 21.
To discuss the impact of non-invasive tests, particularly cell-free fetal DNA (cfDNA) analysis, on clinical practice and guidelines.

Main Methods:

Review of existing literature and guidelines on antenatal screening for trisomy 21.
Focus on the principles and application of non-invasive cell-free fetal DNA testing.

Main Results:

Non-invasive tests have led to substantial changes in antenatal screening protocols.
Clinicians require updated knowledge and skills for effective antenatal counseling regarding NIPT.

Conclusions:

The integration of NIPT necessitates adaptation in clinical practice and patient counseling.
Updated guidelines and strategies are crucial for population-wide implementation of advanced antenatal screening.