作者
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, Fetal Sequencing Consortium
发表日期
2024/2
期刊
Prenatal Diagnosis
卷号
44
期号
2
页码范围
196-204
简介
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. Demographics, sonograms, genetic testing including variant classification, and delivery outcomes were abstracted.
Results
Seven cases of initially prenatally suspected LUTO‐positive for a molecular diagnosis were identified. In no case was the final diagnosis established as urethral obstruction that is, LUTO. All variants were classified as likely …
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BK Brar, K Blakemore, C Hertenstein, JL Miller… - Prenatal Diagnosis, 2024