In:
Prenatal Diagnosis, Wiley
Abstract:
What is already known about this topic? Lower urinary tract obstruction (LUTO) presents prenatally with fetal megacystis, a thickened bladder wall, and possible signs of upper urinary tract obstruction LUTO is seen at an increased prevalence in cases of aneuploidy Some cases initially suspected to be LUTO prenatally represent other disorders distinctly different from simple urethral obstruction What does this study add? Heterozygous and homozygous variants in several single genes, including MYOCD , ACTG2 , MYH11 , KMT2D , and BBS10 , may be identified in prenatally suspected LUTO, which does not represent a simple anatomic urethral obstruction but rather a functional smooth muscle deficiency disorder or a multiple malformation syndrome Mutations in MYOCD and ACTG2 are associated with a LUTO—like picture prenatally and failure of bladder emptying (FOBE). Familial cases can demonstrate variable expressivity, incomplete penetrance, and sex‐dependent phenotypes Euploid fetuses with prenatally suspected LUTO and non‐genitourinary malformations are likely to have a higher frequency of single gene etiologies A molecular diagnosis can provide clarity in cases presenting initially with suspected LUTO and assists not only in counseling regarding recurrence risks and reproductive planning but also in clarifying the underlying mechanism for failure of bladder emptying and, thereby, counseling regarding prognosis and management
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
1491217-X