Genetics and metabolic causes of stillbirth

Abstract

Approximately 25% of stillbirths have been attributed to cytogenetic, mendelian, or biochemical causes with 75% still unknown. The most common autosomal trisomies are 21, 18, and 13, and the most common karyotypic abnormality is 45×. The remaining are sporadic multiple malformation syndromes and single organ malformations. Little is known about the genetic and metabolic causes of stillbirth; however, with new cytogenetic techniques such as fluorescent in situ hybridization, comparative genomic hybridization, and telomeric probes, cytogenetic errors will be identified more accurately. Advances in diagnosis will provide additional information for appropriate genetic counseling. Copyright © 2002 by W.B. Saunders.