Bobby K Brar, Karin Blakemore, Christine Hertenstein, Jena L Miller, Kristen A Miller, Hanan Shamseldin, Sateesh Maddirevula, Thomas Hays, Billie Lianoglou, Stephanie Dukhovny, Linda A Baker, Teresa N Sparks, Ronald Wapner, Fowzan S Alkuraya, Mary E Norton, Angie C Jelin
OBJECTIVE: Fetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO-like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype-phenotype correlations. METHODS: A retrospective case series of suspected fetal LUTO positive for a molecular diagnosis was collected from five centers in the Fetal Sequencing Consortium...
August 18, 2023: Prenatal Diagnosis