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Published on: October 20, 2019
Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid
Shu-Chin Chien1, Chien-Nan Lee, Chia-Cheng Hung
1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Insights
Rapid prenatal diagnosis for chronic granulomatous disease (CGD) is now possible using denaturing high-performance liquid chromatography (DHPLC). This molecular tool accurately identified a healthy fetus, preventing the need for further invasive testing.
Area of Science:
- Medical Genetics
- Molecular Diagnostics
Background:
- Chronic granulomatous disease (CGD) is an inherited immune disorder.
- X-linked CGD is a severe form requiring early diagnosis and management.
- Prenatal diagnosis is crucial for families with a history of X-linked CGD.
Observation:
- Amniocentesis was performed in the second trimester of an ongoing pregnancy.
- Fetal DNA was analyzed using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing.
- A previously identified mutation for X-linked CGD was targeted.
Findings:
- DHPLC analysis predicted the fetus was not affected by CGD.
- Direct sequencing confirmed the absence of the CGD mutation.
- The infant was born healthy, validating the prenatal diagnosis.
Implications:
- DHPLC offers a rapid and accurate method for prenatal diagnosis of CGD.
- This molecular tool can be used for prenatal diagnosis of other genetic disorders.
- Effective prenatal diagnosis reduces the need for further invasive procedures and allows for informed family planning.
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.
