探讨产前超声与遗传学评估在胎儿消化道梗阻临床诊疗中的价值。

纳入2022年8月至2025年8月于南京医科大学附属妇产医院行产前超声提示胎儿消化道梗阻并经多学科会诊的82例孕妇，其中上消化道梗阻44例、下消化道梗阻38例，分析2组胎儿的产前超声特征、遗传学结果及围产期结局。

上消化道梗阻组共44例，其中单纯性梗阻28例（63.6%），合并其他结构畸形16例（36.4%）。根据超声特征分类包括十二指肠梗阻（双泡征）32例（72.7%）、食管闭锁11例、幽门梗阻1例。32例行染色体微阵列分析检测（CMA），合并畸形组异常检出率（5/10，50.0%）显著高于单纯组（2/22，9.1%），差异有统计学意义（P＜0.05）。产前终止妊娠率34.1%（15/44），单纯梗阻组新生儿存活率88.0%（22/25），3例死亡新生儿均为食管闭锁患儿。合并畸形组继续妊娠者中1例胎死宫内，3例新生儿存活。下消化道梗阻组共38例，其中单纯性梗阻28例（73.7%），合并其他结构畸形10例（26.3%）；其超声均表现为肠管扩张。其中30例行CMA，合并畸形组异常检出率（3/9，33.3%）高于单纯性梗阻（1/21，4.8%），差异无统计学意义（P=0.128）。产前终止妊娠率为13.2%（5/38），单纯梗阻组与合并畸形组继续妊娠者新生儿存活率均为100%。

胎儿消化道梗阻在产前超声中具有特征性表现，合并其他结构畸形时染色体异常风险显著增高；单纯性下消化道梗阻预后最佳，上消化道梗阻中食管闭锁预后较差。

To assess the value of prenatal ultrasound and genetic evaluation in the clinical prenatal diagnosis and management of fetal gastrointestinal obstruction.

A total of 82 pregnant women with fetal gastrointestinal obstruction detected by prenatal ultrasound and evaluated via multidisciplinary consultation from August 2022 to August 2025, at Women's Hospital of Nanjing Medical University were enrolled, including 44 cases of upper gastrointestinal obstruction and 38 cases of lower gastrointestinal obstruction. Prenatal ultrasound characteristics, genetic testing results, and perinatal outcomes were systematically analyzed and compared between the two groups.

Among the 44 cases of upper gastrointestinal obstruction, 28 (63.6%) presented with isolated obstruction, while 16 (36.4%) were complicated with other structural malformations. According to ultrasound classification, there were 32 cases (72.7%) of duodenal obstruction (double-bubble sign), 11 cases of esophageal atresia, and 1 case of pyloric obstruction. Chromosomal microarray analysis (CMA) was performed in 32 cases, revealing a significantly higher abnormality detection rate in the complicated malformation group (5/10, 50.0%) than in the isolated group (2/22, 9.1%; P＜0.05). The prenatal termination rate was 34.1% (15/44). Among the 25 cases of isolated obstruction that continued pregnancy, the neonatal survival rate was 88.0% (22/25), with all 3 neonatal deaths occurring in cases of esophageal atresia. In the complicated malformation group, 1 case resulted in intrauterine fetal death, while the remaining 3 neonates survived. Regarding the 38 cases of lower gastrointestinal obstruction, 28 (73.7%) were isolated and 10 (26.3%) were complicated with other structural malformations, with characteristic intestinal dilatation observed on ultrasound in all cases. CMA was performed in 30 cases, showing a higher abnormality detection rate in the complicated malformation group (3/9, 33.3%) than in the isolated obstruction group (1/21, 4.8%), although this difference did not reach statistical significance (P=0.128). The prenatal termination rate of pregnancy was 13.2% (5/38). The neonatal survival rate was 100% for both isolated obstruction and complicated malformation cases.

Fetal gastrointestinal obstruction exhibits characteristic features on prenatal ultrasound. The risk of chromosomal abnormalities increases significantly when obstruction is accompanied by other structural anomalies. Isolated lower gastrointestinal obstruction carries the best prognosis, while esophageal atresia among upper gastrointestinal obstructions is assocated with a poorer prognosis.