title: Prenatal diagnosis of Chediak-Higashi syndrome.
abstract: We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco.
authors.forename: R
authors.initials: R
authors.lastname: Diukman
authors.forename: S
authors.initials: S
authors.lastname: Tanigawara
authors.forename: M J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: M S
authors.initials: MS
authors.lastname: Golbus
mesh_terms: D000135:Acid Phosphatase / Q000097:blood; D000328:Adult; D000649:Amniocentesis; D002609:Chediak-Higashi Syndrome / Q000097:blood / Q000175:diagnosis*; D015193:Chorionic Villi Sampling; D017218:Cordocentesis; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second
chemical_list: D000135:Acid Phosphatase