Subject(s)
Amniocentesis , Chromosome Aberrations/diagnosis , Chromosome Disorders , Female , Genetic Counseling , Humans , PregnancyABSTRACT
In spite of the rapid development of amniocentesis for genetic diagnosis, it is still only a small fraction of the mothers at risk who are having the procedure performed. The medical and public health problems associated with genetic amniocentesis are discussed on the basis of the experience gathered in a major medical center.
Subject(s)
Amniocentesis , Chromosome Aberrations/diagnosis , Congenital Abnormalities/diagnosis , Metabolism, Inborn Errors/diagnosis , Adult , Amniocentesis/adverse effects , Anencephaly/diagnosis , Chromosome Disorders , Female , Humans , Maternal Age , Pregnancy , Sex Determination Analysis , Spina Bifida Occulta/diagnosisABSTRACT
A 34-year-old primigravida underwent genetic amniocentesis at 20 weeks gestation and the fetus was diagnosed as having Turner's syndrome. The concentration of alpha-fetoprotein in amniotic fluid was greatly elevated. Normal concentrations of amniotic fluid total protein, albumin and immunoglobulin indicated that the elevated level of alpha-fetoprotein was not the result of leakage through a hygroma, which has been previously suggested without supporting data in cases of Turner's syndrome of the fetus.
