Preimplantation genetic testing and prenatal diagnosis in a family with type Ⅰ neurofibromatosis / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 222-226, 2022.
Article
em Zh
| WPRIM
| ID: wpr-933906
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WPRO
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.
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Índice:
WPRIM
Tipo de estudo:
Diagnostic_studies
Idioma:
Zh
Revista:
Chinese Journal of Perinatal Medicine
Ano de publicação:
2022
Tipo de documento:
Article