TY  - JOUR
AU  - Shams, Mahmood
AU  - Safarian, Nader
AU  - Farokhimanesh, Samila
AU  - Dorgalaleh, Akbar
PY  - 2026
DA  - 2026/05/26
TI  - Prenatal Diagnosis of Severe Factor VII Deficiency in the Setting of Maternal Breast Cancer
JO  - OBM Genetics
SP  - 343
VL  - 10
IS  - 02
AB  - Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder (RBD), presenting with various clinical manifestations. Given the heightened risk of life-threatening bleeding and fatal hemorrhagic complications, prompt detection of the disorder is critical, especially in cases with low FVII levels and a history of familial severe clinical presentations. In such cases, prenatal diagnosis (PND) emerges as a life-saving option. In this study, we reported two PNDs in a family with a positive family history of severe FVII deficiency (G (p.Met1Val) variant in exon 1 of the affected girl, who was homozygous for this variant in the F7 gene and had severe FVII deficiency (G variant, leading to termination of the second pregnancy. During the third pregnancy (Second PND), while the mother was being cared for for breast cancer, the homozygous child was born without complications, and the mother underwent mastectomy following delivery. Over the following two years, the child has remained asymptomatic, and the mother has also remained healthy after the mastectomy. Successful PND of severe FVII deficiency was achieved through c.1A>G variant detection, with coordinated multidisciplinary care enabling favorable maternal and fetal outcomes despite concurrent breast cancer treatment.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2602343
DO  - 10.21926/obm.genet.2602343
ID  - Shams2026
ER  -