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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Andraz Smon1, Barbka Repic Lampret1, Urh Groselj1
1University Medical Centre Ljubljana, University Children's Hospital, Bohoriceva 20, Ljubljana, Slovenia.
Clinical Biochemistry
|November 8, 2017
Summary
This pilot study introduced expanded newborn screening (NBS) in Slovenia using tandem mass spectrometry and next-generation sequencing (NGS). Results show NBS can effectively identify inborn errors of metabolism (IEM), paving the way for routine implementation.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Most Southeastern European countries lack expanded newborn screening (NBS) programs.
- This study is among the first expanded NBS initiatives in Southeastern Europe.
- Estimating the incidence of inborn errors of metabolism (IEM) in Slovenia is crucial.
Purpose of the Study:
- To conduct an expanded NBS pilot study in Slovenia.
- To estimate the incidence of IEM in the Slovenian population.
- To evaluate the utility of next-generation sequencing (NGS) in NBS.
Main Methods:
- A pilot study involving 10,048 newborn screening cards.
- Utilized tandem mass spectrometry followed by NGS for confirmatory analysis.
- 85 children underwent metabolic follow-up, with 80 analyzed by NGS.
Main Results:
- Confirmed one case of glutaric acidemia type 1.
- Identified a suspected very long-chain acyl-CoA dehydrogenase deficiency case with heterozygous variants.
- Detected elevated metabolites for 3-methylcrotonyl-CoA carboxylase deficiency in nine participants.
- Cumulative incidences of IEM were comparable to other European countries.
Conclusions:
- NGS is valuable for differentiating affected patients from heterozygotes and improving genetic analysis turnaround time.
- The study provides essential data for the routine implementation of expanded NBS in Slovenia.
- Expanded NBS is feasible and beneficial for early detection of IEM.
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