Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin

Abstract

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.

Gynaecological and obstetrical bleeding in women with factor XI deficiency – a systematic review

“…A total of 268 women with FXI deficiency were included in ten studies (see Table ), in 56 of whom (21%) heavy menstrual bleeding was reported.…”

“…Studies describe patients as having either severe or non-severe (or partial or mild or heterozygote) FXI deficiency. The most frequently used definition classifies [14,15,17,18,[23][24][25]34] FXI <20 IU dL À1 as severe FXI deficiency and FXI between ≥20 IU dL À1 to <70 IU dL À1 as non-severe FXI deficiency.…”

“…Prevalence of heavy menstrual bleeding in FXI deficiency. A total of 268 women with FXI deficiency were included in ten studies [12,[14][15][16]19,20,25,28,33,34] (see Table 1), in 56 of whom (21%) heavy menstrual bleeding was reported.…”

“…In eight studies [12,[14][15][16]20,25,33,34], the use of oral contraceptives or intrauterine devices were not taken into account, while they reported on prevalence of HMB.…”

“…Twelve studies described a total of 446 deliveries (Table 4), 5% (6/128) of these deliveries were described as assisted vaginal deliveries. Most studies [10,13,16,25,27,30,32,33,35] did not report the number of assisted vaginal deliveries. Postpartum haemorrhages (PPH) were reported in 79 out of 446 (18%) vaginal deliveries, ranging from 0 to 42% in studies with >10 deliveries.…”