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Alobar Holoprosencephaly with Duodenal Atresia: A Case Report
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作者 Wiryawan Permadi D. Setiawan +3 位作者 M. Alamsyah Aziz Yanuarman   Anita D. Anwar f. f. wirakusumah 《Open Journal of Obstetrics and Gynecology》 2019年第8期1189-1196,共8页
Introduction: Holoprosencephaly (HPE) is the most frequent malformation of the prosencephalon. It represents the absence or incomplete division of the prosencephalon during the 4th and 8th week of gestation. Its incid... Introduction: Holoprosencephaly (HPE) is the most frequent malformation of the prosencephalon. It represents the absence or incomplete division of the prosencephalon during the 4th and 8th week of gestation. Its incidence is estimated to be 1 in 16,000 live births and 1 in 250 spontaneous abortions. According to the degree of cerebral involvements, it is classified into 3 types: alobar, semilobar, and lobar. Alobar is the most severe type. Duodenal atresia occurs in approximately 1:10,000 live births. It can be fatal unless diagnosed and surgically treated promptly. It is a less common cause of polyhydramnion. The diagnosis of duodenal obstruction may be suspected prior to the child’s birth by prenatal ultrasonography. The outcome of congenital duodenal obstructions, in terms of mortality rate, has improved over the last decades, mainly attributable to the improvement in the quality of prenatal diagnosis and neonatal intensive care. Embryological basis for etiology of duodenal atresia is thought to be due to errors of recanalization. Duodenal atresia is associated with other congenital anomalies in spite with holoprosencephaly. This is the only case (HPE with duodenal atresia) which is reported in Hasan Sadikin Hospital in the last five years. Materials and Methods: A patient G2P1A0 who had vaginal birth 6 years ago, without complication on mother and fetus was referred to Hasan Sadikin Hospital with abdominal discomfort as main complaint on her 33 - 34 weeks of pregnancy. Prenatal care was during the first and second trimester by midwife and sonography in satellite hospital. She had polyhydramnion and head abnormality and referred to Hasan Sadikin Hospital. Sonography examination showed alobar holoprosencephaly, abnormal facial (cleft lip and palate, absent nasal bone, hypotelorism), duodenal atresia and polyhydramnios (Amniotic Fluid Index 50 cm);other examinations were normal. Amnioreduction and karyotyping examination were done. After 3 weeks the amniotic fluid increased (Amniotic Fluid Index 45 cm) and the patient complaint recurrent abdominal discomfort, so second amnioreduction was done. Estimated fetal weight was 2500 gram, using Doppler examination umbilical arteries were in normal limits (pulsatility index = 1.08). Cesarean section on 38 weeks of pregnancy was done considering the abnormal head circumference and diameter as requested by the mother and the family. Results: The patient had poor prenatal care, late diagnosed congenital anomalies i.e. holoprosencephaly, facial anomaly and duodenal atresia. Fetal malformation might be clearly visible earlier if sonography examination on the first and second trimester was done appropriately, and mother and family were informed to choose the right action. Postnatal examination (MRI and USG) were not done. BNO examination revealed double bubble on the upper abdomen up to the left and right part. The baby was referred to the pediatric surgery with duodenal atresia and duodenostomy was planned. Genetic testing using conventional karyotype analysis ruled out aneuploidy of chromosomes 13, 18, 21, X and Y. No other risk factors such as smoking, alcohol, diabetes, infectious disease and drugs were before and during pregnancy. But she had bad environmental condition near a river with colored and bad smelled water from factory waste. </ 展开更多
关键词 HOLOPROSENCEPHALY DUODENAL ATRESIA ULTRASOUND EXAMINATION
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