Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
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Updated: May 19, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Lisa G Shaffer1, Mindy P Dabell, Allan J Fisher
1Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA. lisa.shaffer@perkinelmer.com
Objective:
To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience.
Methods:
Prenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone coverage of the entire genome.
Results:
The overall detection rate of clinically significant copy number alterations (CNAs) among unbiased, nondemise cases was 5.3%. Detection rates were 6.5% and 8.2% for cases referred with abnormal ultrasounds and fetal demise, respectively. The overall rate of findings with unclear clinical significance was 4.2% but would reduce to 0.39% if only de novo CNAs were considered. In cases with known chromosomal rearrangements in the fetus or parent, 41.1% showed CNAs related to the rearrangements, whereas 1.3% showed clinically significant CNAs unrelated to the karyotype. Finally, 71% of the clinically significant CNAs found by microarray were below the resolution of conventional karyotyping of fetal chromosomes.
Conclusions:
Microarray analysis has advantages over conventional cytogenetics, including the ability to more precisely characterize CNAs associated with abnormal karyotypes. Moreover, a significant proportion of cases studied by array will show a clinically significant CNA even with apparently normal karyotypes.
