Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
BMC Pregnancy Childbirth. 2023 Jul 8;23(1):503. 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.
本研究旨在探讨不同类型先天性胃肠道梗阻中染色体异常的发生率，并评估先天性胃肠道梗阻胎儿的妊娠结局。
本研究纳入了 2014 年 1 月至 2020 年 12 月期间的 64 例胃肠道梗阻患儿，根据超声图像将其分为三组。A 组：孤立性上消化道梗阻；B 组：孤立性下消化道梗阻；C 组：非孤立性胃肠道梗阻。计算不同组中染色体异常的发生率。对行羊膜腔穿刺术的孕妇进行病历和电话随访。随访内容包括妊娠结局和活产儿的发育情况。
2014 年 1 月至 2020 年 12 月，共有 64 例先天性胃肠道梗阻胎儿行染色体微阵列分析（CMA）检查，CMA 检测的总检出率为 14.1%（9/64）。A、B 和 C 组的检出率分别为 16.2%、0 和 25.0%。9 例 CMA 结果异常的胎儿均终止妊娠。55 例染色体正常的胎儿中，有 10 例（18.2%）在出生后未发现任何胃肠道梗阻。17 例（30.9%）胎儿在出生后被诊断为胃肠道梗阻并接受了手术治疗，其中 1 例下消化道梗阻合并胆道梗阻，因肝硬化死亡。11 例（20.0%）因多发畸形终止妊娠。5 例（9.1%）胎儿宫内死亡。3 例（5.5%）胎儿新生儿死亡。9 例（16.4%）胎儿失访。
了解胃肠道异常是否孤立存在或伴有其他发现至关重要。孤立性下消化道梗阻胎儿染色体异常的风险低于上消化道梗阻。排除遗传异常后，先天性胃肠道梗阻胎儿的预后有望较好。
