Prenatal Diagnosis of Otocephaly: A Rare Facial Anomaly.

Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful. Case Report: Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios. On ultrasound examination, she had unilateral mild ventriculomegaly and posterior fossa cyst in the fetal brain. The fetus had agnathia and anophthalmia. There was an echogenic intracardiac focus and echogenic bowel. The stomach was not seen clearly. This could be due to agnathia and microstomia leading to swallowing difficulties. The patient was explained about the guarded prognosis. The pregnancy was terminated. A diagnosis of otocephaly was made. Discussion: Otocephaly is a rare disorder of development of the first branchial arch. The reported incidence is 1 in 70,000. It is mostly lethal due to respiratory difficulties and may be associated with cranial and extracranial malformations. Most case reports have found that it is sporadic and could be due to mutations in the PRRX1 gene. Other anomalies that may be associated with otocephaly are neural tube defects, cephalocele, dysgenesis of corpus callosum, atresia of the third ventricle, midline probocis, hypotelorism, renal ectopia, cyclopia, vertebral and rib abnormalities, tracheo esophageal fistula, cardiac anomalies and adrenal hypoplasia. Most of the cases reported so far were diagnosed in the second or the third trimester. Facial anomaly screening has undergone a huge evolution in the recent years. In addition to the usual facial screening, we recommend mandibular arch screening in the first and early second trimester. If there is a doubt the patient may be called back at 15 to 16 weeks of gestation considering the fact that these anomalies are usually lethal and medical termination is safer earlier in pregnancy than later. MRI may be a handy tool to confirm antenatal diagnosis as it can detect the abnormal ears. Agnathia and polyhydramnios occur together in the third trimester but in the first or second trimester polyhydramnios may not be observed. Conclusion: Otocephaly, though rare, poses a clinical challenge for both patient and the reporting doctor. Considering the time limitation for termination of pregnancy in our country, early prenatal diagnosis is important. A detailed face evaluation in the first trimester can help detect this defect as early as 11-14 weeks. Early diagnosis of lethal anomalies helps in completing the fetal work up and offering a safer termination. Correct diagnosis and work up of fetal anomalies allows for documentation and awareness of the presence of these conditions in our population.

Familial Apple Peel Jejunal Atresia with Helical Umbilical Cord Ulcerations in Three Consecutive Pregnancies.

Apple peel deformity is a rare form of upper intestinal atresia of unknown etiology. Umbilical cord ulcers can occur secondary to reflux of gastric juice and bile as a result of the atresia and can cause lethal intrauterine hemorrhage. The authors report 3 instances of congenital apple peel jejunal atresia with helical umbilical cord ulcers afflicting all female offspring in consecutive pregnancies in a single nonconsanguineous family. There was no hemorrhage from the cord ulcers, but all 3 pregnancies resulted in perinatal death. Although familial occurrence is known, our case series is probably the 1st from the Indian subcontinent and warrants further research into the genetic mechanisms and possible ethnic differences of congenital upper intestinal atresia. The causation of sudden fetal demise in the absence of antecedent cord hemorrhage remains elusive.

An analysis of pregnancy outcome in dichorionic and monochorionic twins given special antenatal and intranatal care: a four-year survey.

OBJECTIVE: The present study aims to analyze perinatal outcomes in twins given special care during pregnancy and labor and to compare fetal and neonatal outcomes in dichorionic twins with monochorionic twins. STUDY DESIGN: Eighty eight (88) twin pregnancies booked for care at a tertiary care Fetal Medicine centre were included in this study. The maternal demographic variables, course of pregnancy, fetal problems, and specialized fetal therapeutic and diagnostic interventions were noted. The above parameters were compared in the sub-groups of dichorionic and monochorionic twin pregnancies and related to the perinatal outcome. Statistical analysis was done using the student's t test and the two-tailed chi sqaure tests with Yate's continuity correction. A p value <0.05 was considered as significant. RESULTS: Mean maternal age was 30.34 + 4.81 years (range 19-48). 81 % of the twins were DCDA, and 19 % were MCDA. The mean gestational age at delivery was 34.4 ± 3.5 weeks, and this was not significantly different in MCDA and DCDA groups. Serious fetal problems warranting intervention at the time of initial referral were significantly higher in MCDA twins although overall perinatal outcome in both groups were not different. CONCLUSION: Specialized care during pregnancy and labor including active fetal surveillance and therapeutic intervention when indicated improves the perinatal outcome in twin pregnancies and ensured at least one healthy live birth in over 90 % cases, although with an increase in late prematurity.