Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear.

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis