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.