Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes

Corrêa, Stephany; Rocha, Mylene Neves; Richeti, F.; Kochi, Cristiane; Lima, Lohran Anguera; Magalhães, Marina Helena Cury Gallottini; Longui, Carlos Alberto

doi:10.4238/2014.october.31.22

Cited by 8 publications

(4 citation statements)

References 16 publications

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“…In contrast, a recent study estimated that each real-time PCR test for TS detection costs $15 US. 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 (79). Most recently, whole-exome sequencing was shown to accurately diagnose TS, including cases with low-level mosaicism, isochromosome Xq and cryptic Y material (80).…”

Section: Newborn Screeningmentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

866

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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Section: Newborn Screeningmentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

866

1,259

View full text Add to dashboard Cite

show abstract

“…Real-time polymerase chain reaction (PCR) gene quantification can be used for diagnosis of TS [ 13 , 14 ]. Correa et al [ 14 ] proposed an algorithm for neonatal TS detection using 2 study genes and one normalizing gene, ARSE (arylsulfatase E-OMIM 300180), MAGEH1 (melanoma antigen, H1-OMIM protein: 300548), and HBB (beta hemoglobin, OMIM OMIM 141900), which are located in the telomeric pseudoautosomal region (ARSE-Xp22.3), the pericentromeric region (MAGEH1-Xp11.21), and on the autosomal chromosome (HBB-11p15.5), respectively. ARSE/HBB and MAGEH1/HBB ratios less than 0.81 and 1.24, respectively, confirm a diagnosis of TS.…”

Section: Diagnostic Considerationsmentioning

confidence: 99%

Diagnostic and therapeutic considerations in Turner syndrome

Yang¹

2017

Ann Pediatr Endocrinol Metab

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Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome. In this review, we discuss several diagnostic trials using recently developed genetic techniques and studies of physiological hormone replacement treatment over the last 5 years.

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“…Nevertheless, these were performed in patients who already had a diagnosis of SCA. In another study, Correa et al, developed a method for neonatal detection of TS using ARSE and MAGEH1 gene dose quantification, which was tested in 996 newborns whose peripheral blood was collected and stored on filter paper, reporting a 95% detection sensitivity (Correa et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

Ibarra‐Ramírez

Lugo-Trampe

Campos-Acevedo

et al. 2020

Genetic Testing and Molecular Biomarkers

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Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ‡2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ‡2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.

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Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes

Cited by 8 publications

References 16 publications

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Diagnostic and therapeutic considerations in Turner syndrome

Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

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