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Published on: June 8, 2019
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma
Ji Hyae Lim1, Mee Jin Kim, Shin Young Kim
1Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea.
Purpose:
To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma.
Methods:
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma. Maternal plasmas were obtained at 27 weeks of gestational age from women carrying an achondroplasia fetus or a normal fetus.
Results:
Two percent or less achondroplasia DNA was reliably detected by QF-PCR. In a woman carrying a normal fetus, analysis of cf-DNA showed only one peak of the wild-type G allele. In a woman expected an achondroplasia fetus, analysis of cf-DNA showed the two peaks of wild-type G allele and mutant-type A allele and accurately detected the fetal achondroplasia.
Conclusions:
The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia.
