Prenatal genetic diagnosis can guide pregnancy management and decision making. Genetic diagnosis has advanced rapidly, and chromosomal microarray has become widely used, in addition to conventional karyotype. Exome sequencing may provide an even higher detection rate of genetic anomalies and may be more commonly applied in the future.
The objectives of this manuscript are to review current practices in prenatal genetic diagnosis, define exome sequencing, identify scenarios in which exome sequencing may be indicated, identify potential concerns regarding exome sequencing, and review the importance for the general obstetrician-gynecologist to understand exome sequencing technology and its uses.
A MEDLINE search of “prenatal genetic testing,” “chromosomal microarray,” “conventional karyotype,” or “exome sequencing” in the review was performed.
The evidence cited in this review includes 6 medical society committee opinions and 17 additional peer-reviewed journal articles that were original research or expert opinion summaries.
Conclusions and Relevance
Exome sequencing may be a useful prenatal genetic diagnostic tool in cases with ultrasound anomalies with previously normal chromosomal microarray and/or karyotype. As more data become available, technology improves, and costs fall, exome sequencing may become more widely used in prenatal genetic diagnosis.
Obstetricians and gynecologists, family physicians.
After completing this activity, the learner should be better able to identify indications for prenatal genetic diagnosis; compare available methods of prenatal genetic diagnosis; define exome sequencing; refer patients for whom exome sequencing may be considered; and explain the benefits and limitations of exome sequencing for prenatal genetic diagnosis.