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Article

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

BMC medical genetics - 24 Jan 2018

He Wen-Bin, Tan Yue-Qiu, Hu Xiao, Li Wen, Xiong Bo, Luo Ke-Li, Gong Fei, Lu Guang-Xiu, Lin Ge, Du Juan

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29368589
DOI: 10.1186/s12881-018-0525-9
PMCID: PMC5784596

Genes

PGD
CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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