title: Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system.
abstract: OBJECTIVE
  To describe a family on whom it was possible to perform a rapid prenatal diagnosis for chronic granulomatous disease (CGD) using a denaturing high-performance liquid chromatography (DHPLC) system.
  
  
  METHODS
  For a family whose first-born, a boy, suffered from X-linked chronic granulomatous disease, fetal DNA was obtained from an ongoing pregnancy by amniocentesis early in the second trimester. Denaturing high-performance liquid chromatography and direct sequencing were used to attempt to detect the previously identified X-linked chronic granulomatous disease mutation.
  
  
  RESULTS
  Our studies predicted that the fetus in question was not likely to be affected by chronic granulomatous disease, which was demonstrated to be correct at birth.
  
  
  CONCLUSIONS
  Here, we introduce a molecular diagnostic tool (DHPLC) for an effective and exact prenatal diagnosis of normality for the second-born child, as determined from amniocentesis during the second trimester.
authors.affiliation: Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Shu-Chin
authors.initials: SC
authors.lastname: Chien
authors.forename: Chien-Nan
authors.initials: CN
authors.lastname: Lee
authors.forename: Chia-Cheng
authors.initials: CC
authors.lastname: Hung
authors.forename: Po-Nien
authors.initials: PN
authors.lastname: Tsao
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Fon-Jou
authors.initials: FJ
authors.lastname: Hsieh
mesh_terms: D000649:Amniocentesis; D002851:Chromatography, High Pressure Liquid; D041321:Chromosomes, Human, X; D004247:DNA / Q000032:analysis*; D017931:DNA Primers; D003937:Diagnosis, Differential; D005260:Female; D005333:Fetus / Q000378:metabolism*; D005817:Genetic Counseling; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D009691:Nucleic Acid Denaturation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011262:Pregnancy Trimester, Second
chemical_list: D017931:DNA Primers; D008562:Membrane Glycoproteins; D004247:DNA; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases