Who needs prenatal counselling with a pediatric surgeon? Experience from a large tertiary care university hospital

Objectives To describe our experience with prenatal counselling for surgical anomalies in a large volume center. The secondary aim is to suggest a list of prenatal abnormalities warranting counselling by a pediatric surgeon. Methods We reviewed all prenatal counselling consultations performed by the pediatric surgery team between January 1st, 2015 and December 31st, 2016. Results A total of 169 patients or couples had a prenatal consultation with a pediatric surgeon. Prenatal work-up included a fetal MRI in 26% of cases, mainly for digestive and thoracic pathologies (56.1% of cases). Consultation with the pediatric surgeon led mainly to recommendations concerning the place of delivery. Induction for reasons related to the fetal anomaly occurred in 22.2% of cases. Most children were surgically treated within the first year of life (63.5%). Correlation between predicted prognosis and actual status at four years of life was 96.9%. Correlation between prenatal and postnatal diagnosis was 87.4%. Conclusions Prenatal counselling by a pediatric surgeon allows couples to obtain clear information on the pathology of their unborn child, giving them greater autonomy in their decision to continue the pregnancy.

Hydranencephaly: A rare case report

Hydranencephaly (HE) is a rare condition occurring in <1/10,000 births worldwide. It is one of the recognized forms of brain malformations that are usually associated with intrauterine fetal demise rarely seen in postnatal life. HE can often be misdiagnosed due to certain common features with other neurological abnormalities such as hydrocephalus, holoprosencephaly, and porencephaly. Here, we report the case of a 26-year-old pregnant patient at 34 weeks who was referred with ultrasonography finding of HE which was confirmed by fetal MRI. The decision to deliver the baby was taken expecting an extremely poor outcome after discussing with the family.

Stomach Volume Evaluation on Fetal MRI and its use in Prenatal Identification of Esophageal Atresia

Swallowing of amniotic fluid alters the volume of the fetal stomach; therefore an abnormal fetal stomach size can be indicative of pathology. Previous studies have used linear measurements on ultrasound to approximate stomach sizes. Fetal magnetic resonance imaging (MRI) allows for volumetric measurement of the stomach. The objective of this study was to develop a library of normal fetal stomach volumes on MRI at each gestational age. We also sought to measure stomach volumes of fetuses with esophageal atresia and compare to normal volumes at similar gestation ages (GA). A retrospective review of fetal MRIs from patients 20-38 weeks GA was conducted. Exclusion criteria for the controls included any impairment that would impede swallowing or alter stomach sizes. Patients with esophageal atresia were identified and postnatal records were reviewed to confirm the diagnosis. The stomach volume was measured on T2-weighted imaging using Phillips Intellispace software. The stomach volumes of the controls at each GA were compared using one-way ANOVA with Games-Howell Post-Hoc (p<0.05). The stomach volume in esophageal atresia was compared to controls using a T-test (p<0.001). 185 control studies, 10 at each week of gestation, and 8 patients with esophageal atresia were included. For normal fetuses, there was a trend of increased stomach size and broadened standard deviation with increasing GA. No significant difference was found between any two sequential weeks, however the difference in second and third trimester volumes was significant (p<0.001). The patients with esophageal atresia had significantly smaller stomach volumes compared to control patients of the same GA range (p<0.001). This pilot study established reference values for fetal stomach volume, which was found to increase with GA. The stomach volume is significantly smaller in patients with esophageal atresia. Thus, esophageal atresia can be identified prenatally, allowing for delivery at an appropriate acuity NICU and early intervention.

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.