Obstetric and neurodevelopmental outcome in fetal cerebral ventriculomegaly.

PURPOSE: The purpose of this study is to establish the obstetric and early neurological outcomes of fetuses diagnosed with intrauterine ventriculomegaly (VM). MATERIALS AND METHODS: This retrospective study included 27 fetuses with VM diagnosed by ultrasound (US) and referred for in utero magnetic resonance imaging (MRI). US and MRI reports and laboratory test results were obtained including chromosome analysis, congenital infections, and first and second trimester screening tests. Infants were evaluated for clinical outcome for six to 24 months of age. RESULTS: Twenty (51%) fetuses had mild and 19 (49%) fetuses had severe VM. Accompanying central nervous system (CNS) anomalies were statistically significantly more common in severe VM group. The outcome of mild VM group was statistically significantly better than in the severe VM group. CONCLUSIONS: The authors conclude that ventricular dimension is a significant prognostic factor to detennine the outcome of fetal cerebral VM. The presence of accompanying CNS anomalies is more common with severe VM and may be considered as an unfavorable indicator for a better outcome.

Prolonged unconjugated hyperbilirubinaemia associated with the haem oxygenase-1 gene promoter polymorphism.

AIM: To elucidate the genetic factors causing hyperbilirubinaemia in prolonged jaundice of the newborns, we investigated whether the HO-1 gene promoter polymorphism is a cause in unexplained pathological or prolonged jaundice. METHODS: Three groups were defined: healthy newborns with no clinical jaundice, newborns hospitalized for jaundice without any identifiable pathological cause and newborns with prolonged jaundice associated with breast milk. Genomic DNA was extracted from the white blood cells and the promoter region of the HO-1 gene was amplified using PCR and their allelic repeats were determined. RESULTS: We did not detect any significant difference in the allele frequencies between the healthy newborns and the newborns whose serum total bilirubin levels were >12.9 mg/dL. However, the patients with short (<24 GT) dinucleotide repeat in the HO-1 gene promoter on either allele had significantly higher prolonged unconjugated hyperbilirubinaemia than the healthy newborns. There was no significant difference between the groups 2 and 3. CONCLUSION: The results indicate that polymorphism of HO-1 gene promoter region can be an underlying cause of the prolonged unconjugated hyperbilirubinaemia associated with breast milk. In this patient population, short repeat alleles of the HO-1 gene promoter polymorphism were associated with prolonged jaundice.