With the introduction of ultrasound into clinical obstetrical care, the in-utero identification of fetal structural anomalies has become routine. While ultrasound technology has continued to improve and now allows detection of most major anomalies, karyotyping and chromosomal microarray analysis can offer disease-specific counseling to provide couples with the information necessary to make informed reproductive decisions. Equally important, knowledge of the genotype can direct additional fetal, neonatal, and pediatric management.

We aim to develop a comprehensive program of genome sequencing and interpretation in the context of maternal fetal medicine in order to improve the health care of newborns and their families. With advances in prenatal imaging, we are increasingly able to detect birth defects prenatally and use this information to optimize perinatal and neonatal management. Introduction of next-gen sequencing technologies into perinatal care is the logical next step as chromosomal microarray analysis has now transitioned into routine prenatal care.

Molecular genetic diagnostics have improved our ability to more precisely identify the underlying cause of birth defects and provide additional prognostic information to improve prenatal and postnatal management. There are many clinical benefits including increasingly precise prognostic information to alert the clinician to other anomalies or medical/developmental problems associated with the genomic findings, reducing the need for costly postnatal diagnostic tests and allowing prenatal planning of mode and hospital of delivery to optimize early treatment.

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