CONGENITAL HEART-DISEASE AND FETAL THORACOABDOMINAL ANOMALIES - ASSOCIATIONS INUTERO AND THE IMPORTANCE OF CYTOGENETIC ANALYSIS

被引:26
作者
FOGEL, M [1 ]
COPEL, JA [1 ]
CULLEN, MT [1 ]
HOBBINS, JC [1 ]
KLEINMAN, CS [1 ]
机构
[1] YALE UNIV,SCH MED,DEPT OBSTET & GYNECOL,YALE FETAL CARDIOVASC CTR,333 CEDAR ST,POB 3333,NEW HAVEN,CT 06510
关键词
D O I
10.1055/s-2007-999427
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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.
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页码:411 / 416
页数:6
相关论文
共 21 条
[1]  
Copel J.A., Pilu G., Kleinman C.S., Congenital heart disease and extracardiac anomalies: Associations and indications for feral echocardiography, Am J Obstet Gynecol, 154, pp. 1121-1132, (1986)
[2]  
Copel J.A., Cullen M., Green J.J., Mahoney M.J., Hobbins J.C., Kleinman C.S., The frequency of aneuploidy in prenatally diagnosed congenital heart disease: An indication for fetal karyotyping, Am J Obstet Gynecol, 158, pp. 409-413, (1988)
[3]  
Copel J.A., Pilu G., Green J.J., Hobbins J.C., Kleinman C.S., Fetal echocardiographic screening for congenital heart disease: The importance of the four-chamber view, Am J Obstet Gynecol, 157, pp. 648-655, (1987)
[4]  
Greenwood R.D., Rosenthal A., Parisi L., Fyler D.C., Nadas A.S., Extracardiac abnormalities in infants with congenital heart disease, Pediatrics, 55, pp. 485-492, (1975)
[5]  
Greenwood K.D., Rosenthal A., Nadas A.S., Cardiovascular malformations associated with omphalocele, J Pediatr, 85, pp. 818-821, (1974)
[6]  
Seashore J.H., Congenital abdominal wall defects, Clin Perinatol, 5, pp. 61-77, (1978)
[7]  
Mayer T., Black R., Matlak M.E., Johnson D.G., Gastroschisis and omphalocele: An eight-year review, Ann Surg, 192, pp. 783-787, (1980)
[8]  
Grosfeld J.L., Dawes L., Weber T.R., Congenital abdominal wall defects: Current management and survival, Surg Clin North Am, 61, pp. 1037-1049, (1981)
[9]  
Wladimiroff J.W., Molenaar J.C., Niermeijer M.F., Stewart P.A., van Eyck J., Prenatal diagnosis and management of omphalocele, F.ttr J Obstet Gynecol Reprod Biol, 16, pp. 19-23, (1983)
[10]  
Baird P.A., Mac Donald E.C., An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive births, Am J Hum Genet, 33, pp. 470-478, (1984)