Startseite Medizin Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre
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Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre

  • Giuseppe Maria Maruotti , Giulia Frisso , Giuseppe Calcagno , Giuliana Fortunato , Giuseppe Castaldo , Pasquale Martinelli EMAIL logo , Lucia Sacchetti und Francesco Salvatore
Veröffentlicht/Copyright: 11. April 2013
Clinical Chemistry and Laboratory Medicine (CCLM)
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 51 Heft 12

Abstract

Background: The demand for molecular prenatal diagnosis (PD) of inherited diseases to help high-risk couples make informed reproductive decisions has increased in the past decade.

Methods: We provided multidisciplinary pre-test counselling to 1248 couples at high risk of having a child affected by an inherited disease.

Results: After multidisciplinary counselling, 1171 couples requested PD for one of 73 inherited diseases. Of these, 995 (85.0%) were performed on DNA from chorionic villi (CV) and 176 (15.0%) on samples from amniocentesis. The occurrence of pregnancy loss (0.6%) and major complications did not differ significantly between the two groups. We made a diagnosis in all cases (including 8 twin pregnancies) except in 4/995 cases of CV sampling (0.4%) and in 3/176 of amniocentesis (1.7%) due to insufficient DNA. In 15 cases, molecular analysis revealed non-paternity.

Conclusions: PD by analysis of foetal DNA from CV is a reliable aid in reproduction decision-making for couples at high risk of inherited diseases. The complexity of experimental procedures and the specific expertise required for the pre- and post-test multidisciplinary counselling suggest that PD be performed in reference centres also within the framework of supranational networks.

Keywords: amniocentesis; chorionic villi; genetic diseases; molecular diagnosis; multidisciplinary counselling; prenatal diagnosis
Corresponding author: Pasquale Martinelli, MD, PhD, Department of Neuroscience, Reproductive Sciences and Dentistry, Federico II University, Naples, Italy, E-mail:

Grants from Regione Campania (DGRC 1901/09 and L. 548/93, 2007 and 2010) and from Ministero della Salute (Ricerca finalizzata, annualità 2008) are gratefully acknowledged. We are indebted to Jean Ann Gilder (Scientific Communication srl, Naples, Italy) 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: 2013-04-11
Published in Print: 2013-12-01

©2013 by Walter de Gruyter Berlin Boston

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  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
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  6. Howell-Jolly body interference in reticulocyte counts
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  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
https://doi.org/10.1515/cclm-2013-0194
Schlagwörter für diesen Artikel
amniocentesis; chorionic villi; genetic diseases; molecular diagnosis; multidisciplinary counselling; prenatal diagnosis

Artikel in diesem Heft

  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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