title: 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.
authors.affiliation: Department of Obstetrics and Gynaecology, Royal Free Hospital, London, UK. rezan.abdul-kadir@royalfree.nhs.uk
authors.forename: R A
authors.initials: RA
authors.lastname: Kadir
authors.forename: C E C
authors.initials: CE
authors.lastname: Kingman
authors.forename: C
authors.initials: C
authors.lastname: Chi
authors.forename: N M
authors.initials: NM
authors.lastname: O'connell
authors.forename: A
authors.initials: A
authors.lastname: Riddell
authors.forename: C A
authors.initials: CA
authors.lastname: Lee
authors.forename: D L
authors.initials: DL
authors.lastname: Economides
mesh_terms: D000328:Adult; D005173:Factor XI Deficiency / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D037841:Pregnant People / Q000208:ethnology