EP10.03: A case of unilateral choanal atresia

Abstract

Electronic poster abstractsConclusion: The father and probably the oocyte donor are carriers of the mutation in the ZMPSTE24 gene, with a repeat risk of 25% for the frozen embryos which can be examined by preimplantation genetic diagnosis. Prenatal diagnosis of RD has not been described previously, but is possible through amniocentesis. Visualisation of the fetal axial BPD plane including the choroid plexus (CP) with the so-called 'butterfly sign' in the lateral ventricles has proven to be one of the most sensitive first-trimester sign for structural cerebral abnormalities. While abnormal shape with fusion of the CP is associated with holoprosencephaly, ratios of CP and the ventricle diameters as well as CP and ventricle area under the 5th percentile have been postulated as an early sign of ventriculomegaly. Beyond that CP asymmetries have been considered as an early physiological sign of laterality. However, there are only limited data available about the clinical relevance of CP asymmetries. Hemimegalencephaly (HME) is an extremely rare malformation of the brain. It is characterised by an enlarged cerebral hemisphere with or without signs of cortical developmental malformations. In the reported case a 25-year old patient -G1, P0 -was initially referred at 13+3 weeks gestation. Except a slight difference in CP size the early anomaly scan did not reveal any major structural abnormalities and resulted in an adjusted risk of 1: 4134 for Trisomy 21 and 1: 7622 for Trisomy 13/18, respectively. At the time of the second trimester anomaly scan (23+2 gestational weeks) the fetus was affected by macrocephaly as wells as abnormal growth and cortical development of the right hemisphere with unilateral ventriculomegaly leading to midline deviation and compression of the left hemisphere suspecting HME. The combination of 2D and 3D ultrasound as well as MRI confirmed the diagnosis of hemimegalencephaly. To conclude, this case expands on previous studies suggesting that CP size asymmetry could also be an early sign for abnormal laterality. We report the diagnostic imaging and prenatal management. Obstruction of the upper respiratory tract (trachea/larynx) occurs due to atresia, stenosis or the presence of a membrane. The prenatal diagnosis is relatively simple. It presents with very significant and characteristic ultrasound features. The prognosis is bad presenting a very high mortality rate. We report a case of prenatal diagnosis of a suspected esophageal atresia and postnatal diagnosis of laryngeal atresia. EP10: HEAD AND NECKEP10 EP10.02This gravid woman did not present any major morphological anomalies at mid-trimester scan. She was referred to our unit at 28 weeks gestation due to non-visualisation of the gastric chamber and polyhydramnios. A small gastric chamber and severe polyhydramnios were confirmed. The suspected diagnosis of esophageal atresia with tracheoesophageal fistula was suspected. Two amnioreductions were performed due to maternal discomfort. Caesarean section was performed with 40 weeks + 3 for fetal dist...