Article
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
The New England journal of medicine - 29 Oct 2020
Sparks Teresa N, Lianoglou Billie R, Adami Rebecca R, Pluym Ilina D, Holliman Kerry, Duffy Jennifer, Downum Sarah L, Patel Sachi, Faubel Amanda, Boe Nina M, Field Nancy T, Murphy Aisling, Laurent Louise C, Jolley Jennifer, Uy Cherry, Slavotinek Anne M, Devine Patrick, Hodoglugil Ugur, Van Ziffle Jessica, Sanders Stephan J, MacKenzie Tippi C, Norton Mary E
Abstract excerpt
BACKGROUND: 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. METHODS: We evaluated a series of...
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