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Multiplex PCR in noninvasive prenatal diagnosis for FGFR3 ‐related disorders
Author(s) -
Terasawa Sumire,
Kato Asuka,
Nishizawa Haruki,
Kato Takema,
Yoshizawa Hikari,
Noda Yoshiteru,
Miyazaki Jun,
Ito Mayuko,
Sekiya Takao,
Fujii Takuma,
Kurahashi Hiroki
Publication year - 2019
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12278
Subject(s) - achondroplasia , prenatal diagnosis , dysplasia , fibroblast growth factor receptor 3 , dwarfism , fetus , medicine , biology , genetics , pregnancy , gene , receptor , fibroblast growth factor
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.