Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes

• Published in: BMC pregnancy and childbirth Vol. 23; no. 1; p. 503
• Main Authors: Ni, Mengyao, Zhu, Xiangyu, Liu, Wei, Gu, Leilei, Zhu, Yujie, Cao, Peixuan, Gu, Yan, Xu, Yan, Dai, Chenyan, Wu, Xing, Yang, Ying, Zhou, Chunxiang, Li, Jie
• Format: Journal Article
• Language: English
• Published: England BioMed Central 08-07-2023; BMC
• Subjects: Amniotic fluid; Births; Chromosomal microarray analysis; Chromosomes; Congenital diseases; Congenital gastrointestinal obstruction; Down syndrome; Fetuses; Genetic counseling; Genetic testing; Genotype & phenotype; Medical diagnosis; Patients; Pregnancy; Pregnancy outcomes; Prenatal diagnosis; Ultrasonic imaging; Germany; Chromosomal microarray analysis; Congenital gastrointestinal obstruction; Prenatal diagnosis; Pregnancy outcomes
• ISSN: 1471-2393; 1471-2393
• DOI: 10.1186/s12884-023-05828-7

The aim of this study was to investigate the incidence of chromosome anomalies in different types of congenital gastrointestinal obstruction and assess pregnancy outcomes of fetuses with congenital gastrointestinal obstruction.
A total of 64 cases with gastrointestinal obstruction between January 2014 and December 2020 were enrolled in this study. They were divided into three groups according to sonographic images. Group A: isolated upper gastrointestinal obstruction; Group B: isolated lower gastrointestinal obstruction; Group C: non-isolated gastrointestinal obstruction. The rate of chromosome anomalies in different groups was calculated. Pregnant women with amniocentesis were followed up by medical records and telephone. The follow-up included pregnancy outcomes and development of the live born infants.
From January 2014 to December 2020, there were 64 fetus with congenital gastrointestinal obstruction underwent chromosome microarray analysis(CMA), the overall detection rate of CMA testing was 14.1%(9/64). The detection rate of Group A, B and C were 16.2%, 0 and 25.0% respectively. 9 fetuses with abnormal CMA results were all terminated. Among 55 fetuses with normal chromosomes, 10(18.2%) fetuses were not found to have any gastrointestinal obstruction after birth. 17(30.9%) fetuses were diagnosed with gastrointestinal obstruction and underwent surgical treatment after birth, one of which had lower gastrointestinal obstruction combined with biliary obstruction and died due to liver cirrhosis. 11(20.0%) pregnancy were terminated due to multiple abnormalities. 5(9.1%) fetuses were intrauterine death. 3(5.5%) fetuses were neonatal deaths. 9(16.4%) fetuses were lost to follow-up.
It is crucial to understand whether the gastrointestinal tract abnormality is isolated or associated to other findings. The risk of chromosomal abnormalities in fetuses with isolated lower gastrointestinal obstruction is lower than upper gastrointestinal obstruction. While genetic abnormalities excluded, a promising prognosis is expected for fetuses with congenital gastrointestinal obstruction.