Prenatal ultrasonic manifestations and prognostic analysis of 17q12 microdeletion syndrome
10.3760/cma.j.issn.1004-4477.2018.12.015
- VernacularTitle:17q12染色体微缺失综合征的产前超声表现及预后分析
- Author:
Chunling LI
1
;
Hezhou LI
;
Junling ZHANG
;
Yingying LI
;
Qingru ZENG
;
Yanan WEI
Author Information
1. 450052,郑州大学第三附属医院超声科
- Keywords:
Ultrasonography;
prenatal;
17q12 microdeletion syndrome;
Kidney;
Chromosomal microarray analysis;
Prognosis
- From:
Chinese Journal of Ultrasonography
2018;27(12):1080-1083
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize and analyze the prenatal ultrasonic manifestations of 17q12 microdeletion syndrome ,so as to provide help for prenatal diagnosis . Methods It carried out a retrospective analysis of 21 cases of 17q12 microdeletion syndrome prenatally confirmed by chromosomal microarray analysis(CMA) in the third affiliated hospital of Zhengzhou University from 2015 .01 to 2018 .05 . Prenatal ultrasound findings were collected . A close follow-up was given for the cases . Results Of the 21 fetus ,20 cases were presented with bilateral hyperechogenic kidneys ,and 1 case showed duodenal obstruction . There were 4 cases accompanied with polyhydramnios ,8 cases with mild polyhydramnio ,and 9 cases with normal amniotic fluid index . Parents of 6 fetus underwent chromosomal examination ,of which 2 cases were inherited from the mother and 4 cases had new chromosomal mutations;Seven cases had a family history of diabetes and 3 cases had a family history of kidney disease;Twelve cases performed induced labor ,2 cases lost follow-up and 1 case was unborn . Six cases were born ,of the 6 cases ,1 case associated with mild dysmorphic facial features , and 1 case associated with bilateral renal cysts . Conclusions 17q12 microdeletion syndrome has specific prenatal ultrasound characteristics ,while echogenic kidneys are of great value in the diagnosis of 17q12 microdeletion syndrome prenatally .
