1. Prenatal diagnosis of haemophilia: our experience of 44 cases
- Author
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Rosaria Ingino, Giuseppe Castaldo, Veronica Sanna, Giovanni Di Minno, Federica Zarrilli, Rita Santamaria, Antonio Coppola, Angiola Rocino, Zarrilli, F, Sanna, V, Ingino, R, Santamaria, Rita, Rocino, A, Coppola, Antonio, DI MINNO, Giovanni, and Castaldo, Giuseppe
- Subjects
medicine.medical_specialty ,Pediatrics ,Genetic counseling ,Amniocentesis, Chorionic villi, F8C, F9, Haemophilia, Prenatal diagnosis ,Clinical Biochemistry ,Haemophilia A ,haemophilia ,Genetic Counseling ,Prenatal diagnosis ,Disease ,Hemophilia A ,F8C ,Haemophilia ,Pregnancy ,medicine ,Humans ,Gynecology ,prenatal diagnosis ,medicine.diagnostic_test ,business.industry ,Biochemistry (medical) ,General Medicine ,chorionic villi ,medicine.disease ,medicine.anatomical_structure ,amniocentesis ,Amniocentesis ,Chorionic villi ,Female ,F9 ,amniocentesis, chorionic villi, F8C, F9, haemophilia, prenatal diagnosis ,business - Abstract
Background: Haemophilia A and B (HA, HB) are the most frequent X-linked bleeding diseases; two-thirds of cases are severe. Methods: We counselled 51 couples for prenatal diagnosis (PD) of haemophilia. In 7/51 (13.7%) cases, the couple decided not to undergo PD because counselling revealed that they were carriers of a mild form of the disease, while we performed 44 PD for severe HA (36 cases) or HB (8 cases). The indication for PD was a haemophilic child (30/44, 68.2%) or an affected family member (12/44, 27.3%); in two cases the non-carrier mother of isolated haemophilic patients requested PD because of the risk of mosaicism. Results: We completed PD in 43/44 cases; in one case, the prenatal sample was contaminated by maternal DNA; however, molecular analysis revealed the female sex of the foetus. We performed PD for 16 of the 36 couples at risk of HA (44.4%) by analysing the intron (IVS)22 inversion; in 1/36 cases (2.8%) the mother had the IVS1 inversion, and in 8/36 (22.2%) the family mutation was identified by sequencing; in 11/36 (30.6%) cases the family mutation was unknown, and PD was performed by linkage (no recombination nor uninformative cases occurred). For HB, in 6/8 (75.0%) cases, PD was performed by DHPLC or by sequencing; in 2/8 cases we tested intragenic markers (again with no cases of recombination or uninformative families). Conclusions: PD in well-equipped laboratories, and multidisciplinary counselling are an aid to planning reproductive and early therapeutic strategies in families with severe haemophilia.
- Published
- 2013