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Publications

Journal Article Epublish

PubMed: 39596667 DOI: 10.3390/genes15111467

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

Genes (Basel) 15(11)

Authors: Jessica Bzdok, Ludwig Czibere, Siegfried Burggraf, Natalie Pauly, Esther M Maier, Wulf Röschinger, Marc Becker, Jürgen Durner

Affiliations

  • Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. Laboratory Labor Becker MVZ eGbR, 81671 Munich, Germany.
  • Laboratory Labor Becker MVZ eGbR, 81671 Munich, Germany.
  • TIB Molbiol Syntheselabor GmbH, 12103 Berlin, Germany.
  • Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.

Abstract

BACKGROUND/OBJECTIVES

Genetic newborn screening (NBS) has already entered the phase of common practice in many countries. In Germany, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and sickle cell disease (SCD) are currently a mandatory part of NBS. Here, we describe the experience of six years of genetic NBS including the prevalence of those three diseases in Germany.

METHODS

Samples and nucleic acids were extracted from dried blood spot cards, commonly used for NBS. A qPCR assay was used to detect disease-causing variants for SMA and SCD, and the detection of T-cell receptor excision circles (TRECs) was performed for SCID screening.

RESULTS

The results of the NBS of over 1 million newborns for SMA, approximately 770,000 for SCID and over 410,000 for SCD are discussed in detail. In these newborns, we have identified 121 cases of SMA, 15 cases of SCID and syndrome-based immunodeficiencies and 77 cases of SCD or β-thalassemia.

CONCLUSIONS

The flexibility of multiplex qPCR is assessed as an effective tool for incorporating different molecular genetic markers for screening. The processing of dried blood spot (DBS) filter cards for molecular genetic assays and the assays are described in detail; turn-around times and cost estimations are included to give an insight into the processes and discuss further options for optimization. The identified cases are in the range expected for the total number of screened newborns, but present a more exact view on the actual prevalences for Germany.

MeSH

Muscular Atrophy, Cells, Genomics, Blood, Infant, Newborn, Atrophy, Anemia, Sickle Cell, Neonatal Screening, Cystinosis, Prevalence, Muscular Atrophy, Spinal, Spine

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