Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis

Abstract excerpt

Driven by technological advances, DNA sequencing has rapidly become an important tool in the diagnosis of genetic disease. Presently, exome sequencing, either using targeted clinical panels or whole exome sequencing, is the predominant approach used in clinical practice. However, whole genome sequencing is likely to increase in use as interpretive tools, and appropriate data sources are developed and cost falls....

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• Epigenetics and DNA Methylation
• Fetal and Pediatric Neurological Disorders
• Prenatal Screening and Diagnostics