Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system.
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.
Chien
Shu-Chin
SC
Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Lee
Chien-Nan
CN
Hung
Chia-Cheng
CC
Tsao
Po-Nien
PN
Su
Yi-Ning
YN
Hsieh
Fon-Jou
FJ
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
D017931:DNA Primers; D008562:Membrane Glycoproteins; D004247:DNA; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases