Holoprosencephaly: a case presentation.

Holoprosencephaly is a rare, potentially catastrophic genetic defect involving the midfacial region and brain. The most severe expressions of the disorder are fatal. Approximately 20 percent of individuals with holoprosencephaly have normal brains and mild facial deformities. As adults, these individuals have the potential of producing severely affected offspring. Therefore, accurate health histories for purposes of case finding and referral for genetic counseling are important components of nursing care for any obstetric patient. NICU nurses should be aware of this rare disorder. When it presents in its most severe forms, it is important that NICU nurses provide accurate information and emotional support while diagnosis is confirmed. It is crucial that parents and families of affected infants be referred for genetic counseling so they can make informed decisions about future pregnancies.

Daniel's story: congenital central hypoventilation syndrome.

Central hypoventilation syndrome (CHS) is a disorder characterized by little or no ventilatory or arousal sensitivity to hypercapnia and variable reactivity to hypoxemia, with little or no hypoxic arousal responsiveness. CHS may be congenital or acquired and can be idiopathic or secondary to a known central nervous system abnormality. Infants often present with life-threatening apnea during quiet sleep and develop severe respiratory acidosis because of the inadequate response to hypercapnia and hypoxia. Long-term treatment usually involves use of mechanical ventilation during sleep.

Meconium testing for cocaine metabolite: prevalence, perceptions, and pitfalls.

OBJECTIVES: We determined the prevalence of prenatal cocaine use in a racially mixed sample of urban and suburban mothers and correlated its use with maternal demographics and newborn measurements. STUDY DESIGN: Meconium from 621 consecutive newborns delivered at two university-affiliated urban hospitals were assayed for benzoylecgonine. Maternal and infant characteristics were linked anonymously with the results. Statistical analysis included t test, Fisher's exact test, Duncan's multiple range analysis, and analysis of covariance, with a value of p < 0.05 considered significant. RESULTS: We found that 3.4% of meconium samples had benzoylecgonine levels exceeding 0.1 micrograms/ml. Its presence was statistically correlated with maternal and neonatal characteristics. A nurse's opinion of cocaine use was correct 22% of the time. CONCLUSIONS: Prenatal cocaine use was statistically associated with multiparity, multigravidity, late-onset and clinic-based prenatal care, public assistance, nonwhite race, and low academic achievement. A nurse's opinion was a poor predictor of maternal cocaine use. Cocaine-exposed infants were significantly smaller, and this correlated best with nonwhite background.