Fetal Anomaly but Normal Karyotype and Microarray Tests — What's the Best Next Step?

Whole-exome sequencing has promise for identifying underlying genetic causes of ultrasound-detected fetal structural anomalies.

In about 3% of pregnancies, a fetal structural anomaly is detected on prenatal ultrasound. The standard approach in such cases is to obtain fetal DNA for karyotyping to detect aneuploidy and microarray to detect copy number variants. To investigate the role of whole-exome sequencing (WES) in determining the causes of ultrasound-detected structural anomalies in fetuses with normal karyotype and microarray testing, two expert groups reported their clinical experience with WES of fetal DNA samples obtained from amniocentesis, chorionic villus sampling, or neonatal cord blood; parental DNA was also analyzed.

In a prospective cohort study in the U.K. involving 610 fetuses, WES detected a causative genetic variant in 8% of cases and a genetic vari…

Reviewing Author

Robert L. Barbieri, MD

Disclosures

Grant/Research SupportNational Institutes of Health

Editorial BoardsUpToDate

Robert L. Barbieri, MD

Disclosures

Grant/Research SupportNational Institutes of Health

Editorial BoardsUpToDate

Fetal Anomaly but Normal Karyotype and Microarray Tests — What's the Best Next Step?

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Reviewing Author