RESUMO
Bernard Soulier Syndrome (BSS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of ristocetin-induced platelet aggregation. Clinical findings vary from person to person. Most of the patients are diagnosed with muco-cutaneous bleeding such as purpura, epistaxis and gingival bleeding in early childhood. Few pregnant women with BSS are described in the literature. Management of thrombocytopenia during pregnancy and delivery requires a multidisciplinary approach. The family should be warned about the potentially life-threatening bleeding during pregnancy and the delivery and the decision about mode of delivery should be individualised, involving discussion with patient and multidisciplinary team.
RESUMO
OBJECTIVE: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. CASE REPORT: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat. CONCLUSION: To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring.