Fogel M, Copel J A, Cullen M T, Hobbins J C, Kleinman C S
Department of Obstetrics & Gynecology, Yale University School of Medicine, New Haven, Connecticut 06510-8063.
Am J Perinatol. 1991 Nov;8(6):411-6. doi: 10.1055/s-2007-999427.
We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.
我们研究了先天性心脏病（CHD）和细胞遗传学异常与脐膨出、腹裂、十二指肠闭锁及后膈疝相关的频率。我们对80例患有这些疾病的患者进行了胎儿超声心动图检查，发现在37例脐膨出患者中有13例（35%）患有先天性心脏病，17例腹裂患者中有2例（12%），15例十二指肠闭锁患者中有4例（27%），11例后膈疝患者中有2例（18%）。对74例患者进行了核型分析，其中24例（32%）异常。虽然大多数患有这些心外畸形和核型异常的胎儿伴有先天性心脏病，但也有许多没有。在患有先天性心脏病和脐膨出的胎儿中，69%核型正常；在患有先天性心脏病和十二指肠闭锁的胎儿中，50%核型正常。我们得出结论，无论核型是否正常，患有心外畸形的胎儿都可能存在先天性心脏病，对患有这些病变的胎儿进行产前评估应包括核型分析和胎儿超声心动图检查。虽然核型分析在产前诊断中起重要作用，但在所研究的异常情况中，核型正常并不能预测心脏结构正常。即使在存在这些异常情况时核型正常，但胎儿超声心动图检查仍是必要的。
