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Updated: May 7, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 24, 2011

Chromosomal microarray versus karyotyping for prenatal diagnosis.

Ronald J Wapner¹, Christa Lese Martin, Brynn Levy

¹Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA. rw2191@mail.cumc.columbia.edu

The New England Journal of Medicine

|December 11, 2012

Summary

This summary is machine-generated.

Chromosomal microarray analysis offers greater diagnostic yield than karyotyping for prenatal testing. While both detect aneuploidies, microarray identifies additional clinically significant genetic variations, though it misses balanced translocations and triploidies.

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Area of Science:

Prenatal diagnostics
Cytogenetics
Genomic analysis

Background:

Chromosomal microarray analysis (CMA) is a key tool for diagnosing developmental delay and malformations.
Prenatal diagnosis relies on accurate genetic testing methods.
Comparing CMA to traditional karyotyping is crucial for optimizing prenatal care.

Purpose of the Study:

To assess the accuracy and efficacy of CMA versus karyotyping for prenatal diagnosis.
To determine the incremental diagnostic yield of CMA in routine prenatal testing.
To compare the ability of CMA and karyotyping to detect various chromosomal abnormalities.

Main Methods:

A multicenter study involving 4406 women undergoing prenatal diagnosis.
Samples were divided for parallel testing: standard karyotyping and CMA.
CMA was performed in four specialized laboratories, with karyotyping at a central lab.

Main Results:

CMA successfully analyzed 98.8% of samples, with 87.9% usable without tissue culture.
CMA identified all aneuploidies and unbalanced rearrangements found by karyotyping.
In cases with normal karyotypes, CMA detected clinically relevant deletions/duplications in 6.0% (structural anomalies) and 1.7% (AMA/screening).

Conclusions:

CMA provides additional, clinically significant cytogenetic information compared to karyotyping in prenatal testing.
CMA is equally effective as karyotyping for detecting aneuploidies and unbalanced rearrangements.
CMA does not detect balanced translocations or triploidies, which are identifiable by karyotyping.