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Prenatal diagnosis of haemoglobinopathies: our experience of 523 cases

  • Michela Grosso EMAIL logo , Stella Puzone , Maria Rosaria Storino , Raffaele Sessa and Paola Izzo
Published/Copyright: April 9, 2013
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 51 Issue 12

Abstract

Background: We performed counselling for prenatal diagnosis (PD) of haemoglobinopathies in 372 couples. Thirty-four out of 372 (9.1%) did not undergo PD: six due to spontaneous abortion; nine because it was too difficult to make a decision if PD was positive; 18 because counselling excluded the carrier status of one or both parents; and one because parental mutations were mild.

Methods: Eleven out of 338 (3.3%) couples underwent PD because they had a thalassaemic child; 106 (31.4%) were found to be at high risk during pre-conceptional screening; 221 (65.4%) because of familiarity. Of 523 PDs in 486 (92.9%), including six dichorionic twin pregnancies, PD was performed on DNA from chorionic villi (CV), and in 37 from amniocytes (7.1%). In 1/523 cases, PD was not completed because DNA from CV was not sufficient; in two cases single tandem repeat analysis revealed maternal contamination of foetal DNA; in 7/522 (1.3%) cases PD revealed non-paternity. In 435/522 (83.3%) cases, PD was performed using reverse dot-blot and ARMS; 34/522 (6.5%) required sequencing. In 53/522 (10.2%) cases it was necessary to test globin loci for large rearrangements.

Results: One hundred and twenty out of 522 (23.0%) PDs revealed an affected foetus. In all but two cases the couple interrupted pregnancy. In the six twin pregnancies PD revealed a normal and a carrier foetus (two cases), carrier status in both foetuses (two cases) and a carrier and an affected foetus (two cases). In these latter cases the couple planned selective interruption.

Conclusions: Our PD procedure is successful and reliable, and is useful in high-risk areas characterised by molecular heterogeneity.

Keywords: amniocytes; chorionic villi; genetic counselling; haemoglobinopathies; prenatal diagnosis; thalassaemia
Corresponding author: Michela Grosso, PhD, Department of Molecular Medicine and Medical Biotechnology, University of Naples, Federico II, Via S. Pansini, 5, 80131 Naples, Italy, Phone: +39 0817463140, Fax: +39 0817464359, E-mail: ; and CEINGE-Advanced Biotechnology, Naples, Italy

Grants from Regione Campania (DGRC 1901/09) and from University of Naples Federico II are gratefully acknowledged. We thank Jean Ann Gilder (Scientific Communication srl) for editing the text.

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

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Received: 2012-12-19
Accepted: 2013-03-08
Published Online: 2013-04-09
Published in Print: 2013-12-01

©2013 by Walter de Gruyter Berlin Boston

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  6. Howell-Jolly body interference in reticulocyte counts
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  13. Masthead
  14. Masthead
  15. Editorial
  16. Multidisciplinarity and interdisciplinarity at work: the prenatal diagnosis
  17. Research Articles
  18. Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre
  19. Prenatal diagnosis of haemoglobinopathies: our experience of 523 cases
  20. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases
  21. Prenatal diagnosis of haemophilia: our experience of 44 cases
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  23. Editorials
  24. Journal impact factor: the debate continues
  25. Estimation of uncertainty in measurements in the clinical laboratory
  26. Review
  27. Searching for genes involved in hypertension development in special populations: children and pre-eclamptic women. Where are we standing now?
  28. Opinion Paper
  29. More discussion on journal impact factor
  30. General Clinical Chemistry and Laboratory Medicine
  31. Category-specific uncertainty modeling in clinical laboratory measurement processes
  32. The order of draw: myth or science?
  33. Planned variation in preanalytical conditions to evaluate biospecimen stability in the National Children’s Study (NCS)
  34. Longitudinal evaluation of thyroid autoimmunity and function in pregnant Korean women
  35. Evaluation of the N Latex free light chain assay in the diagnosis and monitoring of AL amyloidosis
  36. Identification of an important potential confound in CSF AD studies: aliquot volume
  37. Cancer Diagnostics
  38. Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family
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  40. Diabetes
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  43. Acknowledgment
https://doi.org/10.1515/cclm-2013-0195
Keywords for this article
amniocytes; chorionic villi; genetic counselling; haemoglobinopathies; prenatal diagnosis; thalassaemia

Articles in the same Issue

  1. Letters to the Editor
  2. The addition of MESNA in vitro prolongs prothrombin time similar to N-acetyl cysteine
  3. Detection of unknown β-thalassemia cases from atypical HbA1c chromatograms
  4. Analytical study of a new turbidimetric assay for urinary neutrophil gelatinase-associated lipocalin (NGAL) determination
  5. The rare bipolar-contracted red cell significance and correlation with red cell volume
  6. Howell-Jolly body interference in reticulocyte counts
  7. PBMC expressed adiponectin mRNA is predictive of survival in patients with gastric cancer
  8. Comparison study of two commercially available methods for the determination of infliximab, adalimumab, etanercept and anti-drug antibody levels
  9. Development and validation of a rapid and reliable high-performance liquid chromatography method for methadone quantification in human plasma and saliva
  10. Reply to Ruiz-Argüello et al.: Comparison study of two commercially available methods for the determination of infliximab, adalimumab, etanercept and anti-drug antibody levels
  11. Still more discussion on the journal impact factor
  12. The order of draw, myth or science
  13. Masthead
  14. Masthead
  15. Editorial
  16. Multidisciplinarity and interdisciplinarity at work: the prenatal diagnosis
  17. Research Articles
  18. Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre
  19. Prenatal diagnosis of haemoglobinopathies: our experience of 523 cases
  20. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases
  21. Prenatal diagnosis of haemophilia: our experience of 44 cases
  22. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy
  23. Editorials
  24. Journal impact factor: the debate continues
  25. Estimation of uncertainty in measurements in the clinical laboratory
  26. Review
  27. Searching for genes involved in hypertension development in special populations: children and pre-eclamptic women. Where are we standing now?
  28. Opinion Paper
  29. More discussion on journal impact factor
  30. General Clinical Chemistry and Laboratory Medicine
  31. Category-specific uncertainty modeling in clinical laboratory measurement processes
  32. The order of draw: myth or science?
  33. Planned variation in preanalytical conditions to evaluate biospecimen stability in the National Children’s Study (NCS)
  34. Longitudinal evaluation of thyroid autoimmunity and function in pregnant Korean women
  35. Evaluation of the N Latex free light chain assay in the diagnosis and monitoring of AL amyloidosis
  36. Identification of an important potential confound in CSF AD studies: aliquot volume
  37. Cancer Diagnostics
  38. Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family
  39. Quantification of EGFR autoantibodies in the amplification phenomenon of HER2 in breast cancer
  40. Diabetes
  41. SAA1 genetic polymorphisms are associated with plasma glucose concentration in non-diabetic subjects
  42. Acknowledgment
  43. Acknowledgment
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