title: Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available.
abstract: OBJECTIVE
  To learn about parental decisions to abort or continue a pregnancy after prenatal diagnosis of chromosomal abnormalities among the population in Uruguay.
  
  
  METHODS
  Between 1982 and 2003, 14 656 amniocentesis and 2740 chorionic villus samplings were performed in a referral Genetic Unit. Chromosomal anomalies were found in 376 cases (2.16%) and included Down syndrome, aneuploidies in which a severe prognosis was expected, sex chromosome aneuploidy and aneuploidies with a low risk of an abnormal clinical phenotype. The couples that received abnormal results were contacted by phone and asked if they had continued or interrupted the pregnancy after the diagnosis and genetic counseling.
  
  
  RESULTS
  We contacted 207 couples (55%). When confronted with Down syndrome or an aneuploidy in which a severe prognosis was expected, 89% and 96% of patients, respectively, decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy or aneuploidies with a low risk of an abnormal clinical phenotype, 79% and 90% of patients, respectively, decided to continue the pregnancy.
  
  
  CONCLUSIONS
  The present study shows that when faced with an anomaly such as Down syndrome and aneuploidies in which a severe prognosis was expected, most of the couples decided to terminate the pregnancy, although TOP is not legally available in Uruguay.
authors.affiliation: Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr@dedicado.net.uy
authors.forename: Roberto
authors.initials: R
authors.lastname: Quadrelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Quadrelli
authors.forename: Búrix
authors.initials: B
authors.lastname: Mechoso
authors.forename: Mauricio
authors.initials: M
authors.lastname: Laufer
authors.forename: Ciro
authors.initials: C
authors.lastname: Jaumandreu
authors.forename: Alicia
authors.initials: A
authors.lastname: Vaglio
mesh_terms: D000024:Abortion, Illegal / Q000706:statistics & numerical data; D000025:Abortion, Eugenic / Q000331:legislation & jurisprudence / Q000523:psychology*; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000196:embryology*; D025063:Chromosome Disorders / Q000175:diagnosis*; D003657:Decision Making; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D011247:Pregnancy; D014583:Uruguay