Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
产科
遗传咨询
儿科
作者
Teresa N. Sparks,Billie R. Lianoglou,Rebecca Adami,Ilina D. Pluym,Kerry Holliman,Jennifer Duffy,Sarah Downum,Sachi Patel,Amanda Faubel,Nina M. Boe,Nancy T. Field,Aisling Murphy,Louise C. Laurent,Jennifer Jolley,Cherry Uy,Anne Slavotinek,Patrick Devine,Uğur Hodoğlugil,Jessica Van Ziffle,Stephan J. Sanders,Tippi C. MacKenzie,Mary E. Norton
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.