Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders

Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. This system will be helpful in the differential diagnosis of thanatophoric dysplasia and achondroplasia in early gestation and in couples concerned about the recurrence of thanatophoric dysplasia due to germinal mosaicism.

Original languageEnglish
Pages (from-to)4-10
Number of pages7
JournalCongenital anomalies
Volume59
Issue number1
DOIs
Publication statusPublished - 01-01-2019

Fingerprint

Thanatophoric Dysplasia
Achondroplasia
Multiplex Polymerase Chain Reaction
Prenatal Diagnosis
Mutation
Pregnancy
Mosaicism
Fetal Growth Retardation
DNA
Genes
Fetus
Differential Diagnosis
Extremities
Mothers
Recurrence

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Terasawa, Sumire ; Kato, Asuka ; Nishizawa, Haruki ; Kato, Takema ; Yoshizawa, Hikari ; Noda, Yoshiteru ; Miyazaki, Jun ; Ito, Mayuko ; Sekiya, Takao ; Fujii, Takuma ; Kurahashi, Hiroki. / Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders. In: Congenital anomalies. 2019 ; Vol. 59, No. 1. pp. 4-10.
@article{44385cc3550a489cbe33a01d1ba1f4b1,
title = "Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders",
abstract = "Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. This system will be helpful in the differential diagnosis of thanatophoric dysplasia and achondroplasia in early gestation and in couples concerned about the recurrence of thanatophoric dysplasia due to germinal mosaicism.",
author = "Sumire Terasawa and Asuka Kato and Haruki Nishizawa and Takema Kato and Hikari Yoshizawa and Yoshiteru Noda and Jun Miyazaki and Mayuko Ito and Takao Sekiya and Takuma Fujii and Hiroki Kurahashi",
year = "2019",
month = "1",
day = "1",
doi = "10.1111/cga.12278",
language = "English",
volume = "59",
pages = "4--10",
journal = "Congenital Anomalies",
issn = "0914-3505",
publisher = "Wiley-Blackwell",
number = "1",

}

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders. / Terasawa, Sumire; Kato, Asuka; Nishizawa, Haruki; Kato, Takema; Yoshizawa, Hikari; Noda, Yoshiteru; Miyazaki, Jun; Ito, Mayuko; Sekiya, Takao; Fujii, Takuma; Kurahashi, Hiroki.

In: Congenital anomalies, Vol. 59, No. 1, 01.01.2019, p. 4-10.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders

AU - Terasawa, Sumire

AU - Kato, Asuka

AU - Nishizawa, Haruki

AU - Kato, Takema

AU - Yoshizawa, Hikari

AU - Noda, Yoshiteru

AU - Miyazaki, Jun

AU - Ito, Mayuko

AU - Sekiya, Takao

AU - Fujii, Takuma

AU - Kurahashi, Hiroki

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. This system will be helpful in the differential diagnosis of thanatophoric dysplasia and achondroplasia in early gestation and in couples concerned about the recurrence of thanatophoric dysplasia due to germinal mosaicism.

AB - Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. This system will be helpful in the differential diagnosis of thanatophoric dysplasia and achondroplasia in early gestation and in couples concerned about the recurrence of thanatophoric dysplasia due to germinal mosaicism.

UR - http://www.scopus.com/inward/record.url?scp=85059492740&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059492740&partnerID=8YFLogxK

U2 - 10.1111/cga.12278

DO - 10.1111/cga.12278

M3 - Article

VL - 59

SP - 4

EP - 10

JO - Congenital Anomalies

JF - Congenital Anomalies

SN - 0914-3505

IS - 1

ER -