Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes
Open accessAbstract
Turner syndrome (TS) is characterized by the presence of one full X chromosome and total or partial deletion of the second sex chromosome. Diagnosis of TS is often delayed, resulting in inappropriate treatment. Early diagnosis of TS using a neonatal screening test may improve preventive measures and treatment, thus improving patient quality of life. The goal of this study was to standardize a neonatal TS screening algorithm. Two study genes (ARSE and MAGEH1) and 1 normalizing gene (HBB) were used to detect the second X chromosome. We screened 996 newborns whose peripheral blood was collected and stored in filter paper. In addition, samples from 20 patients with confirmed diagnosis of TS were included in the study. Relative amounts of ARSE/HBB were determined using real-time polymerase chain reaction. The cutoff at the 5th percentile was arbitrarily set to indicate repetition of the test. The test was repeated in 51/1016 patients with ARSE/HBB < 0.81. For 10 samples with values persistently <0.81, we quantified the MAGEH1/HBB ratio. Values below the 95th percentile in TS patients (MAGEH1/HBB < 1.24) were considered to be inadequate. Only 6/996 NB showed inadequate values for the 2 studied genes, which were recalled for clinical evaluation and karyotype testing. Analysis of 20 patients diagnosed with TS allowed for identification of false-negatives and true-positives, establishing 95% sensitivity when the indicated cutoff values were used. In conclusion, our algorithm reached 95% detection sensitivity with an acceptable recall rate (0.6%), allowing for the detection of suspected TS cases in the neonatal period.
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Real-time PCR testing for TS detection costs $15 per test.
“According to a recent study, real-time PCR testing for TS detection costs $15 per test.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [90]
Employing PCR of the ARSE and MAGEH1 genes, all but one patient with TS was detected (sensitivity 95%), and only 0.6% of newborns required recall for karyotypes.
“Employing PCR of the ARSE and MAGEH1 genes, all but one patient with TS was detected (albeit only 10 patients with mosaicism were tested) for a detection sensitivity of 95%, and only 0.6% of the newborns required recall for karyotypes.90”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [90]
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- Authors
- Corrêa, S. C., Rocha, M. N., Richeti, F., Kochi, C., Silva e Lima, L. A., Magalhães, M., & Longui, C. A.
- Affiliations
- Faculdade de Ciências Médicas da Santa Casa de São Paulo (BR)
- Irmandade da Santa Casa de Misericórdia de São Paulo (BR)
- Corresponding author
- Longui, C.A.
- Venue
- Genetics and Molecular Research
- Publisher
- Genetics and Molecular Research
- Published
- 2014
- Volume
- 13
- Issue
- 4
- Pages
- 9068-9076
- ISSN
- 1676-5680 (ISSN-L)
- OpenAlex
- W2114675208
- Cited by
- 11
- References
- 19
- Citations by year
- 2026: 3 · 2024: 1 · 2023: 1 · 2020: 1 · 2019: 2 · 2017: 3
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genetics and Molecular Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- Turner syndrome, newborn screening, screening cut-off values, neonates
- MeSH terms
- Algorithms, Arylsulfatases, Female, Genetic Testing, Humans, Infant, Newborn, Karyotyping, Microtubule-Associated Proteins, Neoplasm Proteins, Sensitivity and Specificity, Turner Syndrome, Reproducibility of Results, Sequence Analysis, DNA, beta-Globins, Karyotype, Real-Time Polymerase Chain Reaction
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