Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system
Journal
Prenatal Diagnosis
Journal Volume
23
Journal Issue
13
Pages
1092-1096
Date Issued
2003
Author(s)
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. Copyright ? 2003 John Wiley & Sons, Ltd.
SDGs
Other Subjects
amniocentesis; article; case report; chronic granulomatous disease; denaturing high performance liquid chromatography; diagnostic accuracy; diagnostic value; DNA determination; DNA sequence; fetus; fetus karyotyping; gene mutation; human; male; prenatal diagnosis; priority journal; second trimester pregnancy; X chromosome linked disorder; Amniocentesis; Chromatography, High Pressure Liquid; Chromosomes, Human, X; Diagnosis, Differential; DNA; DNA Primers; Female; Fetus; Genetic Counseling; Granulomatous Disease, Chronic; Humans; Karyotyping; Linkage (Genetics); Male; Membrane Glycoproteins; Mutation; NADPH Oxidase; Nucleic Acid Denaturation; Pedigree; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, Second
Type
journal article