Kadir R A, Kingman C E C, Chi C, O'connell N M, Riddell A, Lee C A, Economides D L
Department of Obstetrics and Gynaecology, Royal Free Hospital, London, UK.
Haemophilia. 2006 Nov;12(6):625-8. doi: 10.1111/j.1365-2516.2006.01347.x.
A pilot study was conducted over a 6-month period to evaluate antenatal screening for factor XI (FXI) deficiency amongst Ashkenazi Jewish women booking for their pregnancy in a single obstetric unit. Fifty-four women of Ashkenazi Jewish origin were recruited during their visit for the routine first trimester ultrasound scan. They completed a questionnaire about their personal bleeding symptoms and had blood taken for FXI levels (FXI:C). Seven (13%) women had partial FXI deficiency. Five (9%) were newly diagnosed, and in the remaining two, the diagnosis was known previously. One infant with severe FXI deficiency was identified as a result of maternal testing. This study has shown that FXI deficiency is common amongst women of Ashkenazi Jewish origin and supports its antenatal screening in this population. However, further studies are required to evaluate its cost-effectiveness and the effect on pregnancy outcome.
在6个月的时间里进行了一项试点研究，以评估在单一产科单位预约妊娠的阿什肯纳兹犹太妇女中进行凝血因子XI（FXI）缺乏症的产前筛查情况。54名阿什肯纳兹犹太裔妇女在进行常规孕早期超声扫描时被招募。她们填写了一份关于个人出血症状的问卷，并采集血液检测FXI水平（FXI:C）。7名（13%）妇女存在部分FXI缺乏。5名（9%）为新诊断病例，其余2名的诊断先前已知。通过母亲检测发现1名患有严重FXI缺乏的婴儿。这项研究表明，FXI缺乏在阿什肯纳兹犹太裔妇女中很常见，并支持在该人群中进行产前筛查。然而，需要进一步研究来评估其成本效益以及对妊娠结局的影响。
