Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands.
OBJECTIVE
To examine the feasibility of standardized hemoglobinopathy (HBP) carrier testing for pregnant women in The Netherlands in addition to the standard anemia screening.


METHODS
We assessed the prevalence of HBP in women at the time of the first pregnancy visit using both a prospective cohort (N = 703) and a retrospective series of women selected at random (N = 588). For the purpose of analysis, the population was divided into a high risk and a low risk group for HBP based on maternal ethnicity. Screening for HBP utilized standard screening tests for anemia, with additional high performance liquid chromatography (Variant II); molecular analysis was performed by Gap-polymerase chain reaction (Gap-PCR) and if necessary, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). Family history was reported or collected from the medical records.


RESULTS
β-Globin defects were found in 3.9% of the total population (50/1291). The frequency in the high risk population was 5.6% (37/656), compared with 1.2% (6/501) in the low risk group. In the prospective study we found 30 HBP carriers, leading to testing of 16 partners and identification of two couples at risk. One affected child was born. Mean gestational age at the screening was 11.3 weeks with a standard deviation (SD) of 5.8.


CONCLUSIONS
We found that the prevalence of HBP carriers is high enough in our population to warrant HBP testing for the entire multiethnic population in early pregnancy at the time of anemia screening. This is feasible as most women had their booking early in their first trimester.
Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.o.kaufmann@lumc.nl
Judith O
JO
Kaufmann
Gönül
G
Demirel-Güngör
Anke
A
Selles
Cisca
C
Hudig
Gerard
G
Steen
Gabrielle
G
Ponjee
Cas
C
Holleboom
Liv M
LM
Freeman
Joris
J
Hendiks
Pierre
P
Wijermans
Piero C
PC
Giordano
Jean-Louis
JL
Kerkhoffs
D000293:Adolescent; D000328:Adult; D002851:Chromatography, High Pressure Liquid; D005240:Feasibility Studies; D005260:Female; D005820:Genetic Testing; D006403:Hematologic Tests; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009426:Netherlands / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012189:Retrospective Studies; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055544:beta-Globins