Prenatal sonographic diagnosis of limb-body wall complex with craniofacial defects.

Abstract

In a recent issue of this journal, Taipale et al.1 reported on a twin fetus with both holoprosencephaly and ectopia cordis and suggested that the case might have represented a variant of pentalogy of Cantrell with holoprosencephaly. However, the features in their case fit more closely with the limb–body wall complex with craniofacial defects and amnion disruption sequence as described by Chen et al.2, 3. The craniofacial features in their case are not typical of holoprosencephaly. The displaced and depressed naris and a vertical skin tag on the forehead are most likely the consequence of amniotic adhesion. Similarly, the adherences between digits 3 to 5 of the left hand are more likely to be due to amnion disruption sequence. The absence of a right upper limb and absence of ipsilateral rib cage, leaflet of the diaphragm, and kidney, in the presence of a normal heart and protrusion of internal organs, are more typical of limb–body wall complex. The presence or absence of craniofacial defects has been used as a discriminating factor to establish two separate groups of limb–body wall complex4, 5. Cases of limb–body wall complex with craniofacial defects frequently manifest severe anomalies of the upper limbs, constrictive amniotic bands, and cranioplacental attachment. Conversely, cases of limb–body wall complex without craniofacial defects usually display major anomalies of the lower limbs, abnormal genitalia, anal atresia, renal defects, abdominoplacental attachment, persistence of the extra-embryonic celom, and umbilical cord abnormalities. Fetuses with limb–body wall complex predominantly present abdominal wall defects and limb anomalies with or without craniofacial defects on prenatal ultrasound. Prenatal diagnosis of abdominal wall defects associated with craniofacial malformation and limb deficiency should therefore raise the suspicion of limb–body wall complex with craniofacial defects and warrant a careful investigation of the possible presence of amniotic bands and amniotic adhesion. A thorough perinatal investigation of the fetus, placenta, amniotic membrane and umbilical cord should be performed in order to establish the final diagnosis, which is important for estimating the risk of recurrence and parental counseling. C.-P. Chen*, * Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, and Department of Medical Research, Mackay Memorial Hospital and Department of Nursing, National Yang-Ming University, Taipei, Taiwan, Republic of China