Identification of <i>F8</i> rearrangements in carrier and non‐carrier mothers of haemophilia A patients

Manderstedt, Eric; Lind‐Halldén, Christina; Ljung, Rolf; Astermark, Jan; Halldén, Christer

doi:10.1111/hae.14394

Cited by 1 publication

(1 citation statement)

References 18 publications

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“…Second-trimester screening with ultrasonography will identify the gender of the fetus; if male, amniocentesis under ultrasonography guidance to test for the hemophilia mutation can be done. 12 , 60 , 72 This procedure is normally performed at 15–18 weeks but can be done into the third trimester. Amniotic fluid, with amniocyte cells, is used for testing.…”

Section: Managementmentioning

confidence: 99%

Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults

Wilson

2023

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Although inherited bleeding disorders (IBDs) affect both females and males, this review of the preoperative diagnosis and management of IBDs focuses on genetic and gynecologic screening, diagnosis and management of affected and carrier females. A PubMed literature search was conducted, and the peer-reviewed literature on IBDs was evaluated and summarized. Best-practice considerations for screening, diagnosis and management of IBDs in female adolescents and adults, with GRADE (Grading of Recommendations, Assessment, Development, and Evaluations) evidence level and ranking of recommendation strength, are presented. Health care providers need to increase their recognition of and support for female adolescents and adults with IBDs. Improved access to counselling, screening, testing and hemostatic management is also required. Patients should be educated and encouraged to report abnormal bleeding symptoms to their health care provider when they have a concern. It is hoped that this review of preoperative IBD diagnosis and management will enhance access to women-centred care to increase patients’ understanding of IBDs and decrease their risk of IBD-related morbidity and mortality.

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Section: Managementmentioning

confidence: 99%

Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults

Wilson

2023

cjs

View full text Add to dashboard Cite

show abstract

Identification of F8 rearrangements in carrier and non‐carrier mothers of haemophilia A patients

Cited by 1 publication

References 18 publications

Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults

Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults

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