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P115First trimester diagnosis of the Pentalogy of Cantrell
Author(s) -
Yamasaki A.,
Pedreira D. A. L.,
Muller R.,
Machado M. V.,
Schultz R.,
Cha S. C.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00004-1-114.x
Subject(s) - medicine , omphalocele , diaphragmatic breathing , diaphragmatic hernia , abdominal wall , fetus , obstetrics , surgery , pregnancy , hernia , genetics , alternative medicine , pathology , biology
Case report CATO, 31‐year‐old, 2G 0P 1 missed abortion (6 weeks). Ultrasound at 13 weeks gestation showed an opened fetal thoraco‐abdominal wall, with ectopia cordis and a large omphalocele, severe scoliosis was noticed, suggesting the diagnosis of Pentalogy of Cantrell. Nucal translucency measured 1.5 mm and Doppler velocimetry of the venous ductus showed a reverse A wave. At 15 weeks, a transabdominal echocardiography showed a complete ectopia cordis and a ventricular septal defect with mild dilatation of right atrial and ventricular cavities. Kariotype obtained by cvs at 14 weeks showed a normal male (46,XY). Spontaneous fetal death occurred at 18 weeks and after 4 days induced labor resulted in an uneventful vaginal delivery. The anatomopathologic study confirmed the diagnosis of Pentalogy of Cantrel: ectopia cordis, cardiac anomalies (IAC, IVC, truncus arteriosus), sternal agenesis, diaphragmatic defect and gastrosquisis. Discussion Ectopia cordis is present in the Pentalogy of Cantrell, which is one of the thoraco‐abdominal malformation syndromes. It is a rare disease with a relatively good prognosis in neonatal series. Nevertheless, during pregnancy, few cases have been reported making fetal counselling difficult. This anomaly seems to be a X‐linked dominant inheritance, suggesting that male fetus can have worse prognosis.