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Obstetrics and gynaecological issues in inherited bleeding disorders

Chi, C.; (2011) Obstetrics and gynaecological issues in inherited bleeding disorders. Doctoral thesis , UCL (University College London).

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Prenatal diagnosis forms an integral part of the care provided for carriers of haemophilia. First trimester fetal gender was accurately determined in 24 carriers of haemophilia at a median gestation of 12 weeks by analysis of free fetal DNA (ffDNA) in maternal blood (range 8–14 weeks) and by ultrasound examination (range 11–14 weeks). This enabled avoidance of invasive testing in female pregnancies and appropriate planning for the management of labour and delivery in male (at risk) pregnancies. Quantitative real time PCR assays were developed for the quantification of mutant and wildtype alleles represented in maternal plasma to allow non-invasive prenatal diagnosis of haemophilia since ffDNA would lead to an increase in the concentration of the allele inherited by the fetus. Mutation detection using hybridization probes and by amplification refractory mutation system allowed accurate differentiation between the two alleles but did not permit reliable relative quantification. Retrospective review of the obstetric outcomes and management of women with inherited bleeding disorders (IBD) found regional block was performed in 41 pregnancies suggesting that it could be administered safely during labour and delivery provided the coagulation defects had normalised, either spontaneously during pregnancy or following adequate haemostatic cover. The risks of primary and secondary postpartum haemorrhage (PPH) were 19% and 2%, respectively, in carriers of haemophilia and both 11% in women with factor XI deficiency. Women with subnormal factor levels and/or a positive bleeding history were particular at risk of PPH. The duration of lochia was found to be significantly longer in women with IBD (median 39 days, range 21-58) compared to controls (31 days, range 10-62; p=0.03). Menorrhagia is a common symptom among adolescents with IBD; 90% (38/42) experienced menorrhagia since menarche and 12% (5/42) required hospital admission for acute menorrhagia and severe anaemia. Treatment modalities include haemostatic and/or hormonal therapies. Menstrual blood loss estimated by pictorial blood assessment chart in 26 women with IBD decreased from a median score of 255 (range 134-683) to 35 (range 0-89) with the use of levonorgestrel intrauterine system (LNG-IUS) at a median duration of 33 months (range 14-103). The use of (LNG-IUS) appears to be an effective long term treatment of menorrhagia in women with IBD.

Type: Thesis (Doctoral)
Title: Obstetrics and gynaecological issues in inherited bleeding disorders
Language: English
Additional information: Permission for digitisation not received
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
URI: https://discovery.ucl.ac.uk/id/eprint/1310149
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