Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders
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多重 PCR 在 FGFR3 相关疾病无创产前诊断中的应用
DOI：
10.1111/cga.12278
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发表时间：
2018
影响因子：
1.3
通讯作者：
Kurahashi Hiroki
中科院分区：
文献类型：
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作者：
Terasawa Sumire;Kato Asuka;Nishizawa Haruki;Kato Takema;Yoshizawa Hikari;Noda Yoshiteru;Miyazaki Jun;Ito Mayuko;Sekiya Takao;Fujii Takuma;Kurahashi Hiroki
致死性发育不良和软骨发育不全是由FGFR3基因的结构性活跃突变引起的等位基因疾病。由于致死性发育不良是一种致命性疾病，软骨发育不全是非致命性的，需要在超声诊断肢体短小的胎儿生长迟缓后加以区分。因此，我们开发了一种非侵入性产前检测，使用母体循环中的无细胞胎儿DNA来区分死亡性发育不良和软骨发育不全。一个包含FGFR3基因五个突变热点的多重PCR系统使我们能够有效地在所有疑似死亡性发育不良或软骨发育不全的受检孕妇中识别负责的无细胞DNA突变。该系统有助于妊娠早期死亡性发育不良和软骨发育不全的鉴别诊断，并有助于担心死亡性发育不良因生发嵌合体而复发的夫妇。
Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in theFGFR3gene. 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 theFGFR3gene 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.