Fetal ciliopathies: a retrospective observational single-center study.

ABSTRACT:

Purpose

Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020.

Methods

Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes.

Results

36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5

SUBMITTER: Simonini C 

PROVIDER: S-EPMC9300526 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature