Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.
OBJECTIVE
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.
Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea.
Ji Hyae
JH
Lim
Mee Jin
MJ
Kim
Shin Young
SY
Kim
Hye Ok
HO
Kim
Mee Jin
MJ
Song
Min Hyoung
MH
Kim
So Yeon
SY
Park
Jae Hyug
JH
Yang
Hyun Mee
HM
Ryu
D000130:Achondroplasia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000097:blood*; D005260:Female; D005838:Genotype; D006801:Humans; D008431:Maternal-Fetal Exchange; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000097:blood / Q000235:genetics*
D004247:DNA; D051498:Receptor, Fibroblast Growth Factor, Type 3