title: [Genetic disease and diagnostic strategies in stillbirth].
abstract: BACKGROUND
  Stillbirth occurs in about 1 in 1000 pregnancies. The causes are maternal, fetal, and placental; but in half of the cases, no cause can be determined. Genetic disease, a common cause of stillbirth, is diagnosed in 25-35% of patients with birth defects.
  
  
  OBJECTIVE
  Describe birth defects found in stillbirth cases at the Instituto Nacional de Perinatología in a period of 3 years, analyze risk factors in each pregnancy, and propose an adequate approach to effectively reach the proper diagnosis of defined genetic entities related to stillbirth.
  
  
  METHODS
  All stillbirths cases presenting birth defects and assessed by the Department of Genetics from January 2008 to December 2010 were included in this study.
  
  
  RESULTS
  We evaluated 55 stillbirths with birth defects. 31% of them showed multiple defects; 14.5%, single defects; 20%, single gene disorders; 14.5%, chromosomal abnormalities; 9%, disruptive processes; 7%, non-immune fetal hydrops, and 4% twin pregnancy. The karyotype was obtained in all cases from amniocentesis, and in half of them from umbilical cords as well. In 95% of the cases prenatal findings were confirmed through prenatal USG, and necropsy was performed in 74.5% of them.
  
  
  CONCLUSIONS
  Ultrasound, karyotype, autopsy and assessment by a medical geneticist allowed an accurate diagnosis in 81% of cases. Genetic counseling helps reduce parental anxiety and stillbirth from unknown causes.
authors.affiliation: Departamento de Genética, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, México, DF.
authors.forename: Daniela
authors.initials: D
authors.lastname: Medina Castro
authors.forename: Javier
authors.initials: J
authors.lastname: Castro Llamas
authors.forename: Patricia
authors.initials: P
authors.lastname: Grether González
authors.forename: Mónica
authors.initials: M
authors.lastname: Aguinaga Ríos
mesh_terms: D000328:Adult; D000465:Algorithms; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D011247:Pregnancy; D012189:Retrospective Studies; D012307:Risk Factors; D050497:Stillbirth / Q000235:genetics*; D055815:Young Adult