Journal of Assisted Reproduction and Genetics

, Volume 28, Issue 2, pp 167–172 | Cite as

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma

  • Ji Hyae Lim
  • Mee Jin Kim
  • Shin Young Kim
  • Hye Ok Kim
  • Mee Jin Song
  • Min Hyoung Kim
  • So Yeon Park
  • Jae Hyug Yang
  • Hyun Mee Ryu
Technical Innovations



To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma.


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.


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.


The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia.


Achondroplasia Non-invasive prenatal diagnosis Maternal plasma QF-PCR 



The study was supported by a research grant of the Life Insurance Philanthropy Foundation.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Ji Hyae Lim
    • 1
  • Mee Jin Kim
    • 1
  • Shin Young Kim
    • 1
  • Hye Ok Kim
    • 2
  • Mee Jin Song
    • 3
  • Min Hyoung Kim
    • 2
  • So Yeon Park
    • 1
  • Jae Hyug Yang
    • 2
  • Hyun Mee Ryu
    • 1
    • 2
  1. 1.Laboratory of Medical Genetics, Medical Research InstituteCheil General Hospital and Women’s Healthcare CenterSeoulSouth Korea
  2. 2.Department of Obstetrics and Gynecology, Cheil General Hospital & Women’s Healthcare CenterKwanDong University School of MedicineJung-guSouth Korea
  3. 3.Department of Radiology, Cheil General Hospital and Women’s Healthcare CenterKwanDong University College of MedicineSeoulSouth Korea

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