title: Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study.
abstract: BACKGROUND
  We have offered, for the first time in The Netherlands, carrier diagnostics for hemoglobinopathies (HbP) to early pregnant women. The aim of this study was to establish whether carrier analysis would be welcome by the public and feasible at the outpatient level.
  
  
  METHODS
  One hundred and thirty-nine randomly selected women were informed and offered basic carrier diagnostics at the first pregnancy control.
  
  
  RESULTS
  Carrier diagnostics was accepted by 136 women (97.8%). The population consisted of 31% of recent immigrants and 69% of native Dutch. One carrier of HbS and one of beta-thalassemia were found, both among the group of the recent immigrants. In both cases, partners were tested excluding a couple at risk. In addition, five carriers of alpha(+)-thalassemia were diagnosed at the molecular level, one of them in the native Dutch population. Basic carrier analysis was done both at the Hospital Laboratory and at the Reference Laboratory. No discrepancies were found.
  
  
  CONCLUSIONS
  This pilot study shows that (1) as predicted the prevalence of risk-related HbP and of alpha(+)-thalassemia is high in the immigrant population. (2) The compliance with carrier analysis in both native Dutch and immigrants is virtually total and (3) carrier diagnosis in early pregnancy and partner analysis in Hospital Laboratories is possible and is an effective tool for primary prevention of HbP in The Netherlands.
authors.affiliation: Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: A
authors.initials: A
authors.lastname: Plancke
authors.forename: C A
authors.initials: CA
authors.lastname: Van Meir
authors.forename: C A H
authors.initials: CA
authors.lastname: Janssen
authors.forename: P J M J
authors.initials: PJ
authors.lastname: Kok
authors.forename: I H
authors.initials: IH
authors.lastname: Van Rooijen-Nijdam
authors.forename: B C
authors.initials: BC
authors.lastname: Tanis
authors.forename: J C M
authors.initials: JC
authors.lastname: van Huisseling
authors.forename: F G A
authors.initials: FG
authors.lastname: Versteegh
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control*; D006579:Heterozygote; D006801:Humans; D009426:Netherlands / Q000453:epidemiology; D010342:Patient Acceptance of Health Care; D010865:Pilot Projects; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015995:Prevalence; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control