Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

  • Park, Kyung Eui (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Kim, Sung Ah (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Kang, Moon Joo (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Kim, Hee Sun (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Cho, Sung Im (Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Yoo, Kyoung Won (Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Kim, So Yeon (Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Lee, Hye Jun (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Oh, Sun Kyung (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Seong, Moon-Woo (Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Ku, Seung-Yup (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Jun, Jong Kwan (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Park, Sung Sup (Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Choi, Young Min (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Moon, Shin Yong (Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine)
  • Received : 2012.11.23
  • Accepted : 2013.02.14
  • Published : 2013.03.31
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Abstract

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

Keywords

References

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