title: 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).
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.
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Kyung Eui
authors.initials: KE
authors.lastname: Park
authors.forename: Sung Ah
authors.initials: SA
authors.lastname: Kim
authors.forename: Moon Joo
authors.initials: MJ
authors.lastname: Kang
authors.forename: Hee Sun
authors.initials: HS
authors.lastname: Kim
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: Kyoung Won
authors.initials: KW
authors.lastname: Yoo
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Hye Jun
authors.initials: HJ
authors.lastname: Lee
authors.forename: Sun Kyung
authors.initials: SK
authors.lastname: Oh
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.forename: Seung-Yup
authors.initials: SY
authors.lastname: Ku
authors.forename: Jong Kwan
authors.initials: JK
authors.lastname: Jun
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Young Min
authors.initials: YM
authors.lastname: Choi
authors.forename: Shin Yong
authors.initials: SY
authors.lastname: Moon
keywords: Hypochondroplasia; Preimplantation genetic diagnosis; Receptor, fibroblast growth factor, type 3