A Case of Recurrent Holoprosencephaly / 대한산부인과학회잡지

Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity of brain and craniofacial malformation are not associated with etiology. Individuals with microform of HPE, who usually have normal cognition and brain imaging, are at the risk of having children with HPE. Several studies on the basis of HPE gene have been performed, which shed valuable insight on normal brain development. As additional HPE genes are identified, more accurate recurrent risk counseling can be given. We experienced a case of recurrent HPE diagnosed by transabdominal ultrasound examinations at 22 weeks' gestation.

The Clinical Significance of Absence of Umbilical Artery End-Diastolic Flow in Severe Pre-Eclampsia and Eclampsia / 대한산부인과학회잡지

To determine the perinatal mortality and morbidity of fetuses with absent end-diastolic velocities (AEDV) of the umbilical artery in severe pre-eclampsia and eclampsia, the outcome of 5 fetuses with AEDV was compared with that of 35 fetuses with positive end-diastolic velocities (PEDV). The study population comprised 38 cases of severe pre-eclampsia and 2 cases of eclampsia with structurally normal singletons, who had had umbilical artery Doppler velocimetry weekly from admission to delivery. The Doppler velocimetry result was not used for the clinical management. Perinatal death and neonatal morbidity from both groups were further examined in gestational age category to control the influence of preterm births. The incidence of AEDV of the umbilical artery Doppler velocimetry in severe pre-eclampsia and eclampsia was 12.5% (5/40). The AEDV group had a significantly higher incidence than the PEDV group in terms of ceasarean section due to fetal distress (60% : 17%), Apgar score < 7 at 5 minutes (60% : 14%), perinatal death (25% : 0%) and assisted mechanical ventilation (67% : 9%) both at 32-36 weeks. Time intervals from the detection of AEDV to delivery of live neonates varied from the day to 15 days. In conclusion, AEDV in the umbilical artery might be of clinical value in routine surveillance of pregnancies complicated by severe pre-eclampsia and eclampsia, and predict hypoxic fetal condition which needs operative interventions before or during labor and mechanical ventilation after birth.