Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands

• Published in: Prenatal diagnosis Vol. 31; no. 13; pp. 1259 - 1263
• Main Authors: Kaufmann, Judith O., Demirel-Güngör, Gönül, Selles, Anke, Hudig, Cisca, Steen, Gerard, Ponjee, Gabrielle, Holleboom, Cas, Freeman, Liv M., Hendiks, Joris, Wijermans, Pierre, Giordano, Piero C., Kerkhoffs, Jean-Louis
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.12.2011; Wiley
• Subjects: Adolescent; Adult; beta-Globins - genetics; Biological and medical sciences; Chromatography, High Pressure Liquid; Delivery. Postpartum. Lactation; ethnic minorities; Feasibility Studies; Female; Fundamental and applied biological sciences. Psychology; Genetic Testing; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Hematologic Tests; hemoglobinopathies; Hemoglobinopathies - blood; Hemoglobinopathies - diagnosis; Hemoglobinopathies - epidemiology; Hemoglobinopathies - genetics; Hemoglobins, Abnormal - genetics; Heterozygote; Humans; Medical sciences; Molecular and cellular biology; Netherlands - epidemiology; Polymerase Chain Reaction; Pregnancy; Pregnancy Complications, Hematologic - blood; Pregnancy Complications, Hematologic - diagnosis; Pregnancy Complications, Hematologic - epidemiology; Pregnancy Complications, Hematologic - genetics; Pregnancy Trimester, First; prenatal diagnosis; Prenatal Diagnosis - methods; prevention; Prospective Studies; Retrospective Studies; thalassemia; Young Adult; Netherlands; Europe; Hemoglobinopathy; hemoglobinopathies; Gynecology; Neonatology; Thalassemia; Hemopathy; Epidemiology; ethnic minorities; Ethnic group; Genetic disease; Prevention; Hemolytic anemia; Prenatal diagnosis; Early pregnancy; Genetics; Feasibility
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.2882

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. Conclusion 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. Copyright © 2011 John Wiley & Sons, Ltd.