Copy-number changes in prenatal diagnosis

Abstract

Until recently, the prenatal detection of genetic disease was available to only a subset of the pregnant population deemed to be at an increased risk for chromosomal abnormalities or, more rarely, other genetic disorders, based on family history, multiple-marker screening or ultrasound findings. Guided by recent data that indicate that screening for Down syndrome has improved and that risks of invasive procedures are smaller than previously ascertained, the American College of Obstetricians and Gynecologists has recommended that all women have access to invasive prenatal diagnosis. The parallel development of newer genetic diagnostic technologies, such as chromosomal microarray analysis, has made it feasible to simultaneously test for more conditions than was possible with standard karyotype analysis complemented by targeted fluorescence in situ hybridization or mutation detection for specific conditions. In the pediatric and adult population, chromosomal microarray analysis has already been thoroughly evaluated and is now recommended as a first-line diagnostic test for clinically suspected genetic disorders. In this article, we review the current status of array-based comparative genomic hybridization use for prenatal diagnosis and predict that, in the future, it will replace karyotyping as a first-line test for detecting chromosomal abnormalities in the prenatal setting.

Keywords:

• array-based comparative genomic hybridization
• chromosomal microarray analysis
• copy-number variant
• prenatal diagnosis

Acknowledgements

The authors thank Amy Breman for help with the figures.

Financial & competing interests disclosure

The Medical Genetics Laboratories of the Department of Molecular and Human Genetics (DMHG) at Baylor College of Medicine offer array comparative genomic hybridization under the name Chromosomal Microarray Analysis for clinical prenatal and postnatal diagnostic testing. Melissa Strassberg, Gary Fruhman and Ignatia B Van den Veyver have appointments in the DMHG, but gain no personal revenue from this. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.