Abstract：
BACKGROUND: Congenital microgastria (CM) is a rare condition due to early interruption of stomach development between the 4th and 8th week of gestation, leading to a small midline tubular stomach. Prenatal diagnosis of CM is a challenge with important implications. This study explores the value of biochemical amniotic fluid (AF) analysis and fetal magnetic resonance imaging (MRI) for the prenatal diagnosis of CM in case of nonvisible stomach on fetal ultrasound.
METHODS: Four cases of CM were retrospectively investigated in terms of fetal ultrasound, MRI findings, and biochemical AF analyses. The patients were referred to the Prenatal Diagnosis Unit of the Hôpital Femme Mère Enfant (Lyon, France) at a mean age of 21 weeks of gestation for absent or small fetal stomach on ultrasound with a suspected diagnosis of esophageal atresia (EA). Ultrasound examination confirmed that the stomach was absent in two of the four fetuses and small in the other two. This feature was associated with a congenital heart defect in two cases and a terminal transverse limb defect in one case. Standard genetic workup (array-CGH) results were normal. Biochemical AF analysis, including the EA index, was not suggestive of EA. Fetal MRI showed a small midline tubular stomach, associated with a dilated esophagus, highly suggestive of CM.
CONCLUSIONS: If the fetal stomach is absent on ultrasound, CM should be considered if the AF volume is normal, especially during the third trimester, and if the EA index is not suggestive of gastrointestinal obstruction. In these cases, the diagnosis can be confirmed by fetal MRI, through observation of a small midline tubular stomach associated with a dilated esophagus.
METHODS: Four cases of CM were retrospectively investigated in terms of fetal ultrasound, MRI findings, and biochemical AF analyses. The patients were referred to the Prenatal Diagnosis Unit of the Hôpital Femme Mère Enfant (Lyon, France) at a mean age of 21 weeks of gestation for absent or small fetal stomach on ultrasound with a suspected diagnosis of esophageal atresia (EA). Ultrasound examination confirmed that the stomach was absent in two of the four fetuses and small in the other two. This feature was associated with a congenital heart defect in two cases and a terminal transverse limb defect in one case. Standard genetic workup (array-CGH) results were normal. Biochemical AF analysis, including the EA index, was not suggestive of EA. Fetal MRI showed a small midline tubular stomach, associated with a dilated esophagus, highly suggestive of CM.
CONCLUSIONS: If the fetal stomach is absent on ultrasound, CM should be considered if the AF volume is normal, especially during the third trimester, and if the EA index is not suggestive of gastrointestinal obstruction. In these cases, the diagnosis can be confirmed by fetal MRI, through observation of a small midline tubular stomach associated with a dilated esophagus.
摘要：
背景：由于妊娠第4周至第8周之间胃发育的早期中断，先天性微胃病（CM）是一种罕见的疾病，导致一个小的中线管状胃。CM的产前诊断是一个具有重要意义的挑战。本研究探讨了生化羊水（AF）分析和胎儿磁共振成像（MRI）在产前诊断CM的价值。
方法：对4例CM进行胎儿超声检查，MRI结果和生化AF分析。患者被转诊到医院FemmeMèreEnfant的产前诊断部门（里昂，法国）在超声检查中胎儿胃缺失或小的平均年龄为21周，怀疑诊断为食道闭锁。超声检查证实，四个胎儿中有两个没有胃，另外两个小。此特征与2例先天性心脏缺损和1例末端横肢缺损有关。标准遗传检查(CGH阵列)结果正常。生化AF分析，包括食管闭锁（EA）指数均未考虑EA。胎儿核磁共振显示有一个小的中线管状胃，与扩张的食道有关，高度暗示CM。
结论：如果超声检查胎儿胃缺失，如果AF音量正常，应考虑CM，尤其是在妊娠晚期，如果EA指数不提示胃肠道梗阻。在这些情况下,诊断可以通过胎儿MRI来证实,通过观察与食管扩张相关的小中线管状胃。
方法：对4例CM进行胎儿超声检查，MRI结果和生化AF分析。患者被转诊到医院FemmeMèreEnfant的产前诊断部门（里昂，法国）在超声检查中胎儿胃缺失或小的平均年龄为21周，怀疑诊断为食道闭锁。超声检查证实，四个胎儿中有两个没有胃，另外两个小。此特征与2例先天性心脏缺损和1例末端横肢缺损有关。标准遗传检查(CGH阵列)结果正常。生化AF分析，包括食管闭锁（EA）指数均未考虑EA。胎儿核磁共振显示有一个小的中线管状胃，与扩张的食道有关，高度暗示CM。
结论：如果超声检查胎儿胃缺失，如果AF音量正常，应考虑CM，尤其是在妊娠晚期，如果EA指数不提示胃肠道梗阻。在这些情况下,诊断可以通过胎儿MRI来证实,通过观察与食管扩张相关的小中线管状胃。
