Subject(s)
Neurofibromatoses , Neurofibromatosis 1 , Humans , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/genetics , Spine , Phenotype , MutationABSTRACT
OBJECTIVES: To define current frequency of prenatal detection of congenital heart disease (CHD), factors affecting prenatal detection, and its influence on postnatal course. STUDY DESIGN: We prospectively identified all fetuses and infants < or =6 months of age with major CHD at 3 referral centers in Northern California over 1 year; we obtained prenatal and demographic data, reviewed prenatal ultrasound (US) and postnatal records, and used logistic regression to analyze maternal, fetal, and prenatal-care provider risk factors for prenatal diagnosis. RESULTS: Ninety-eight of 309 infants with major CHD had prenatal diagnosis (36% accounting for 27 pregnancy terminations); 185 infant-families participated in the postnatal survey, and although 99% had prenatal US, only 28% were prenatally diagnosed. Anomalous pulmonary venous return (0%), transposition of the great arteries (19%), and left obstructive lesions (23%) had the lowest prenatal detection. Heterotaxy (82%), single ventricle (64%), and HLHS (61%) had the highest. Prenatal diagnosis was higher at university versus community practices (P = .001). Sociodemographics were not associated with prenatal diagnosis. Infants diagnosed prenatally were less frequently ventilated (P < .01) or treated with prostaglandin (P < .05). CONCLUSIONS: Prenatal detection of major CHD significantly alters postnatal course but remains low despite nearly universal US. CHD type and US practice type are important determinants of prenatal detection.