Preimplantation genetic testing and prenatal diagnosis in a family with type Ⅰ neurofibromatosis
10.3760/cma.j.cn113903-20210825-00735
- VernacularTitle:Ⅰ型神经纤维瘤病1家系的胚胎植入前遗传学检测及产前诊断
- Author:
Li PAN
1
;
Wen SU
;
Daobin LIN
;
Guifeng CAI
Author Information
1. 珠海市妇幼保健院产前诊断中心，珠海 519000
- Keywords:
Neurofibromatosis 1;
Neurofibromin 1;
Prenatal diagnosis;
Preimplantation diagnosis;
Pedigree
- From:
Chinese Journal of Perinatal Medicine
2022;25(3):222-226
- CountryChina
- Language:Chinese
-
Abstract:
We report the implantation genetic testing and prenatal diagnosis of a family with neurofibromatosis type I (NF1). High-throughput sequencing combined with multiplex ligation-dependent probe amplification was performed to identify the pathogenic mutation sites, then verified by Sanger sequencing. The pathogenic mutation of c.4172G>C in the NF1 gene was found in the proband and his mother. After sequencing and single nucleotide polymorphism (SNP) haplotyping of the mutation sites in the embryos by establishing the SNP-linked haplotype, a well-developed blastocyst, without pathogenic mutations, was transplanted, and 28 d later, the ultrasound confirmed that the patient was pregnant. Amniotic fluid samples of the fetus were obtained at 19 +3 weeks for karyotyping and detection of the gene mutation site, which found the fetus did not carry the maternal c.4172G>C mutation of NF1 gene or any copy number variants of clear clinical significance. The patient delivered a healthy term girl by cesarean section, and no significant abnormalities were found during the follow-up to 10 months of age.
