Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Xiaoqing Wu; Xiaoqing Wu; Xiaoqing Wu; Linjuan Su; Linjuan Su; Qingmei Shen; Qingmei Shen; Qun Guo; Qun Guo; Ying Li; Ying Li; Shiyi Xu; Na Lin; Na Lin; Hailong Huang; Hailong Huang; Liangpu Xu; Liangpu Xu

doi:10.3389/fped.2022.918130

Frontiers in Pediatrics (Jun 2022)

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Xiaoqing Wu,
Xiaoqing Wu,
Xiaoqing Wu,
Linjuan Su,
Linjuan Su,
Qingmei Shen,
Qingmei Shen,
Qun Guo,
Qun Guo,
Ying Li,
Ying Li,
Shiyi Xu,
Na Lin,
Na Lin,
Hailong Huang,
Hailong Huang,
Liangpu Xu,
Liangpu Xu

Affiliations

Xiaoqing Wu: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Xiaoqing Wu: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Xiaoqing Wu: Department of Laboratory Medicine, Fujian Medical University, Fuzhou, China
Linjuan Su: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Linjuan Su: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Qingmei Shen: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Qingmei Shen: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Qun Guo: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Qun Guo: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Ying Li: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Ying Li: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Shiyi Xu: Department of Pediatrics, Guangxi Medical University, Nanning, China
Na Lin: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Na Lin: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Hailong Huang: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Hailong Huang: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
Liangpu Xu: Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Liangpu Xu: Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China

DOI: https://doi.org/10.3389/fped.2022.918130
Journal volume & issue: Vol. 10

Abstract

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Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO. According to the level of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, or anal atresia. Traditional karyotyping was performed on all the 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel. Traditional karyotyping revealed twelve (17.1%) chromosomal abnormalities, including 11 cases of trisomy 21 (Down syndrome), and one case of a supernumerary marker chromosome related to Cat eye syndrome. According to the absence or presence of other ultrasound anomalies, they were categorized into isolated GITO (n = 36) and non-isolated GITO (n = 34). The rate of chromosomal abnormalities in the non-isolated GITO pregnancies was significantly higher than that in the isolated GITO pregnancies (29.4 vs. 5.5%, p < 0.05); the survival rate in the isolated group was significantly higher than that in the non-isolated group (67.6 vs. 34.4%, p < 0.05). Among the 32 cases where CMA was performed, an additional one (3.1%) copy number variant with clinical significance was noted in a fetus with normal karyotype. The microduplication on 7q12 was considered to be the genetic etiology of duodenal stenosis, although it was inherited from a phenotypically normal mother. Our study supports the strong association between Down syndrome and fetal GITO, especially duodenal stenosis. Our findings suggested that the risk of chromosomal abnormalities was increased when GITO was accompanied by other ultrasound anomalies; thus, chromosomal abnormalities and fetal anatomy should be carefully evaluated for pregnancy management of fetal GITO.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

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