Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations

Huang, Ruibin; Fu, Fang; Guo, Fei; Zhou, Hang; Yu, Qiuxia; Yan, Shujuan; Liu, Liyuan; Lu, Jianqin; Ma, Chunling; Wang, You; Chen, Huanyi; Wang, Dan; Zhang, Yongling; Jing, Xiangyi; Li, Fucheng; Han, Jin; Li, Dongzhi; Li, Ru; Liao, Can

doi:10.1016/j.ajogmf.2023.101228

Cited by 1 publication

(1 citation statement)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…21 Another genetic condition that needs to be excluded is the renal cysts and diabetes syndrome (17q12 microdeletion syndrome or HNF1B-related disorders). 22 However, the detection of polydactyly can narrow the differential diagnosis.…”

Section: Reported 17mentioning

confidence: 99%

Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome

Yu,

Liu,

Zhen

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

ObjectiveTo present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet–Biedl syndrome (BBS).MethodsThis was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.ResultsAll cases had unremarkable first‐trimester ultrasound scans without reporting limb malformations. All had second‐trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two‐system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.ConclusionEnlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.

show abstract

Section: Reported 17mentioning

confidence: 99%