Clinical characteristics and prognosis of fetuses with HNF1B gene variants: an analysis of 52 cases
10.3760/cma.j.cn113903-20240825-00588
- VernacularTitle:HNF1B基因变异胎儿的临床特征及预后：52例分析
- Author:
Lanlan MO
1
;
Saisai YANG
1
;
Shumin REN
1
;
Yaqin HOU
1
;
Huirong SHI
1
;
Qinghua WU
1
Author Information
1. 郑州大学第一附属医院妇产医学部遗传与产前诊断中心，郑州 450052
- Publication Type:Journal Article
- Keywords:
HNF1B gene;
17q12 microdeletion syndrome;
Renal dysplasia;
Prognosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(4):295-300
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics and prognosis of fetuses with HNF1B gene variants. Methods:Fifty-two fetuses with HNF1B gene variants diagnosed by chromosomal copy number variation sequencing and/or whole exome sequencing at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2024 were retrospectively enrolled in this study, including 47 cases of 17q12 microdeletion and five cases of HNF1B point mutations. Prenatal ultrasound features, pregnancy outcomes, and postnatal manifestations were summarized and analyzed using descriptive statistics. Results:The prenatal ultrasound features of the 52 fetuses included enhanced renal parenchymal echo in 43 cases (82.7%), renal cysts in 15 cases (28.8%), enlarged kidney volume in 14 cases (26.9%), and pyelectasis in 13 cases (25.0%). Parental verification was completed for 35 cases, with 71.4% (25/35) being de novo mutations and 28.6% (10/35) inherited from either parent. Apart from eight cases with unknown pregnancy outcome (six cases were lost to follow-up, two cases refused to be followed up), the other 44 cases were successfully followed up, among which 68.2% (30/44) terminated the pregnancies and 31.8% (14/44) continued, resulting in live births. Prenatal ultrasound indicated renal abnormalities in all 14 live births, while postnatal follow-up showed seven cases with normal kidneys, one with reduced bilateral renal cysts, one with alleviated bilateral pyelectasis, four with unimproved renal structural abnormalities, and one who did not undergo a re-examination. Conclusion:The rate of renal abnormalities diagnosed by prenatal ultrasound in fetuses with HNF1B gene variants is high, and most of the pregnancies are terminated, although the renal sturctural abnormalities may improve after birth.
