Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies.
10.3760/cma.j.issn.1003-9406.2019.04.004
- Author:
Shangjuan ZENG
1
;
Lifang WANG
;
Shiyu LUO
;
Qifei LI
;
Xiaoxia QIU
;
Chunrong GUI
;
Tiansheng LIU
;
Hongwei WEI
;
Gang MA
;
Chunyun FU
Author Information
1. Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China. Email: fuchunyun2008@sina.com.
- Publication Type:Journal Article
- MeSH:
Cesarean Section;
Chromosome Aberrations;
DNA Copy Number Variations;
Female;
Fetus;
Genetic Testing;
Humans;
Pregnancy;
Pregnancy Outcome;
Prenatal Diagnosis;
Ultrasonography, Prenatal
- From:
Chinese Journal of Medical Genetics
2019;36(4):306-309
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies.
METHODS:Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis.
RESULTS:Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes.
CONCLUSION:Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.
