Objective: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated with severe conditions in homozygote or compound heterozygote forms are identified yearly. Thus far, approximately 60 patients and 800 healthy sickle cell (HbS) carriers are reported each year among 180,000 newborns. Results are sent to the general practitioner with the recommendation to inform and diagnose both parents of the healthy carriers to exclude genetic risk, while patients and their parents are referred directly to a pediatrician. This study was performed to determine how often parents of identified carriers and affected newborns are seen in genetic centers for counseling. Methods: In this retrospective study, we collected anonymized data from 7 of the 8 Dutch clinical genetic centers from January 1, 2007, until December 31, 2010. Results: After an initial general increase in total counseling intakes, a decline was noticed in the third year, while the requests for prenatal diagnoses remained relatively stable. In 2007 and 2013, genetic counselors were asked for self-reported knowledge. They found hemoglobinopathy counseling complex, but by 2013, they indicated they had acquired sufficient knowledge on most hemoglobinopathy aspects. Conclusion: We could not observe a significant increase in genetic counseling for hemoglobinopathy after its introduction into newborn screening. Although 120 HbS carriers and 60 patients are expected to be born from couples at risk annually, only 33 at risk couples out of 540 families of diagnosed newborns received optimal care and information at a genetics center in 4 years.

Keywords:
Carrier testing, Family planning, General practitioners , Genetic counseling, Hemoglobinopathy, Newborn screening
1.
Old J: Haemoglobinopathies. Prenat Diagn 1996;16:1181-1186.
2.
Cronin EK, Normand C, Henthorn JS, Graham V, Davies SC: Organisation and cost-effectiveness of antenatal haemoglobinopathy screening and follow up in a community-based programme. BJOG 2000;107:486-491.
3.
Kaufmann JO, Demirel-Gungor G, Selles A, Hudig C, Steen G, Ponjee G, Holleboom C, Freeman LM, Hendiks J, Wijermans P, Giordano PC, Kerkhoffs JL: Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands. Prenat Diagn 2011;31:1259-1263.
4.
van Rhee MA, Holm JP, Niermeijer MF: Genetic carrier screening for hemoglobinopathies: the situation in the Netherlands compared with England (in Dutch). Ned Tijdschr Geneeskd 1998;142:996-997.
5.
Wierenga KJ: Neonatal screening for sickle-cell disease (in Dutch). Ned Tijdschr Geneeskd 1997;141:184-187.
6.
Bolhuis PA, Page-Christiaens GC: The advisory report ‘Neonatal screening' from the Health Council of The Netherlands (in Dutch). Ned Tijdschr Geneeskd 2005;149:2857-2860.
7.
Wierenga KJ, Luteijn AJ: Heterozygote detection for hemoglobinopathies: situation in the Netherlands as compared to the British (in Dutch). Ned Tijdschr Geneeskd 1999;143:326-327.
8.
Giordano PC, Harteveld CL, Wijnen JT: NHG-Standaard Onderzoek van de pasgeborene, een gemiste kans. Huisarts Wet 2002;45:200.
9.
Peters M, Appel IM, Cnossen MH, Breuning-Boers JM, Heijboer H: Sickle cell disease in heel injection screening. I. (in Dutch). Ned Tijdschr Geneeskd 2009;153:854-857.
10.
Lanting CI, Rijpstra A, Breuning-Boers JM, Verkerk PA: Evaluation of Neonatal Heel Prick Screening in Children born in 2007. Leiden, TNO KvL, 2008.
11.
Almeida AM, Henthorn JS, Davies SC: Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region. Br J Haematol 2001;112:32-35.
12.
Oyeku SO, Feldman HA, Ryan K, Muret-Wagstaff S, Neufeld EJ: Primary care clinicians' knowledge and confidence about newborn screening for sickle cell disease: randomized assessment of educational strategies. J Natl Med Assoc 2010;102:676-682.
13.
Baars MJ, Henneman L, ten Kate LP: Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genet Med 2005;7:605-610.
14.
Baars MJ, Scherpbier AJ, Schuwirth LW, Henneman L, Beemer FA, Cobben JM, Hennekam RC, Verweij MM, Cornel MC, ten Kate LP: Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med 2005;7:295-301.
15.
Lubin IM, Caggana M, Constantin C, Gross SJ, Lyon E, Pagon RA, Trotter TL, Wilson JA, McGovern MM: Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings. J Mol Diagn 2008;10:459-468.
16.
Vansenne F, de Borgie CA, Legdeur M, Spauwen MO, Peters M: Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening. Genet Test Mol Biomarkers 2011;15:671-675.
17.
Kaufmann JO, Smit JW, Huisman W, Idema RN, Bakker E, Giordano PC: Basic haemoglobinopathy diagnostics in Dutch laboratories; providing an informative test result. Int J Lab Hematol 2013;35:428-435.
18.
Giordano PC, Dihal AA, Harteveld CL: Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies. Prenat Diagn 2005;25:885-893.
19.
Bozkurt G: Results from the north cyprus thalassemia prevention program. Hemoglobin 2007;31:257-264.
20.
Cao A, Rosatelli MC, Leoni GB, Tuveri T, Scalas MT, Monni G, Olla G, Galanello R: Antenatal diagnosis of beta-thalassemia in Sardinia. Ann N Y Acad Sci 1990;612:215-225.
21.
Leung TN, Lau TK, Chung TK: Thalassaemia screening in pregnancy. Curr Opin Obstet Gynecol 2005;17:129-134.
22.
Modell B, Petrou M, Layton M, Varnavides L, Slater C, Ward RH, Rodeck C, Nicolaides K, Gibbons S, Fitches A, Old J: Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years. BMJ 1997;315:779-784.
23.
Samavat A, Modell B: Iranian national thalassaemia screening programme. BMJ 2004;329:1134-1137.
24.
Silvestroni E, Bianco I, Graziani B, Carboni C, Valente M, Lerone M, D'Arca SU: Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work. J Med Genet 1980;17:161-164.
25.
Najmabadi H, Ghamari A, Sahebjam F, Kariminejad R, Hadavi V, Khatibi T, Samavat A, Mehdipour E, Modell B, Kariminejad MH: Fourteen-year experience of prenatal diagnosis of thalassemia in Iran. Community Genet 2006;9:93-97.
26.
Al AS: Campaign to control genetic blood diseases in Bahrain. Community Genet 2005;8:52-55.
27.
Beentjes M, Jans S: Revised practice guideline ‘Anaemia in midwifery practice' (in Dutch). Ned Tijdschr Geneeskd 2012;156:A3711.
© 2013 S. Karger AG, Basel
2013
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.