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Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.
He, Wen-Bin; Tan, Yue-Qiu; Hu, Xiao; Li, Wen; Xiong, Bo; Luo, Ke-Li; Gong, Fei; Lu, Guang-Xiu; Lin, Ge; Du, Juan.
Afiliación
  • He WB; Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
  • Tan YQ; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
  • Hu X; Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
  • Li W; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
  • Xiong B; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
  • Luo KL; Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
  • Gong F; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
  • Lu GX; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
  • Lin G; Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
  • Du J; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, People's Republic of China.
BMC Med Genet ; 19(1): 15, 2018 01 24.
Article en En | MEDLINE | ID: mdl-29368589
ABSTRACT

BACKGROUND:

Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene.

METHODS:

After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes. PGD and preimplantational genetic screening (PGS) were employed to exclude monogenic disorders and aneuploidy for their embryos.

RESULTS:

ECS using targeted capture sequencing technology revealed that the couple carried the heterozygous disease-causative mutations c.3659C > T (p.Thr1220Ile) and c.3209G > A (p.Arg1070Gln) in the CFTR gene. After PGD and PGS, one of their embryos that was free of congenital FVII deficiency, cystic fibrosis (CF) and aneuploidy was transferred, resulting in the birth of a healthy 3200 g male infant.

CONCLUSION:

We successfully implemented PGD for congenital FVII deficiency and PGD after ECS to exclude CF for the first time to the best of our knowledge. Our work significantly improved the reproductive outcome for the couple and provides a clear example of the use of ECS combined with PGD to avoid the delivery of offspring affected not only by identified monogenically inherited diseases but also by other potential monogenic pathologies and aneuploidy.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Diagnóstico Preimplantación / Deficiencia del Factor VII Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Diagnóstico Preimplantación / Deficiencia del Factor VII Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article