Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy

Campos-Acevedo, Luis Daniel; Ibarra‐Ramírez, Marisol; Lugo-Trampe, José de Jesús; Zamudio-Osuna, Michelle; Torres-Muñoz, Iris; Velasco-Campos, Ma Del Roble; Rojas-Patlán, Luz; Rodríguez‐Sánchez, Iram P.; Martínez-de-Villarreal, Laura Elia

doi:10.1089/gtmb.2016.0101

Cited by 7 publications

(2 citation statements)

References 20 publications

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“…Acknowledging this future landscape, whether or not current evidence to support treatment efficacy and/or cost-effectiveness is available, warrants attention. The more critical question is to establish rigorous evidence of effective early intervention for persons with SCA that will impact long-term outcomes [ 37 , 38 , 39 , 40 ]. This argument is consistent with many proponents of an early diagnosis of neurogenetic developmental disorders in order to direct an early initiation of developmental therapies, prevent the diagnostic odyssey, and improve outcomes, even when not curative [ 41 ].…”

Section: Discussionmentioning

confidence: 99%

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Howell,

Davis,

Carstens

et al. 2024

IJNS

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Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future. Tetrasomy SCAs are rare, manifesting more significant phenotypes compared to trisomies. Prenatal cell-free DNA (cfDNA) screening has been demonstrated to have relatively poor positive predictive values (PPV) in SCAs, directing genetic counseling discussions towards false-positive likelihood rather than thoroughly addressing all possible outcomes and phenotypes, respectively. The eXtraordinarY Babies study is a natural history study of children prenatally identified with SCAs, and it developed a longitudinal data resource and common data elements with the Newborn Screening Translational Research Network (NBSTRN). A review of cfDNA and diagnostic reports from participants identified a higher than anticipated rate of discordance. The aims of this project are to (1) compare our findings to outcomes from a regional clinical cytogenetic laboratory and (2) describe discordant outcomes from both samples. Twenty-one (10%), and seven (8.3%) cases were found to be discordant between cfDNA (result or indication reported to lab) and diagnosis for the Babies Study and regional laboratory, respectively. Discordant results represented six distinct discordance categories when comparing cfDNA to diagnostic results, with the largest groups being Trisomy cfDNA vs. Tetrasomy diagnosis (66.7% of discordance in eXtraordinarY Babies study) and Mosaicism (57.1% in regional laboratory). Traditional genetic counseling for SCA-related cfDNA results is inadequate given a high degree of discordance that jeopardizes the accuracy of the information discussed and informed decision making following prenatal genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Howell,

Davis,

Carstens

et al. 2024

IJNS

View full text Add to dashboard Cite

show abstract

“…Campos-Acevedo et al . 29 reported another method based on the quantification of short stature homeobox ( SHOX ), vesicle-associated membrane protein 7 ( VAMP7 ), and sex-determining region Y ( SRY ). However, this assay requires four hydrolysis probes and three reactions per sample, which leads to high cost and low test capacity.…”

Section: Discussionmentioning

confidence: 99%

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study

Zhou

Zhao³

et al. 2018

Asian J Androl

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Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting (HRM) assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked (ZFX) and zinc finger protein, Y-linked (ZFY). In cases of KS, the ratios of ZFX/ZFY are altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts (5 ng–50 ng) and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity (100%) and specificity (98.1%). Moreover, the HRM assay was rapid (2 h per run), inexpensive (0.2 USD per sample), easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.

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Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination

Dondorp

Wert

2018

Noninvasive Prenatal Testing (NIPT)

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Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy

Abstract: Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.

Cited by 7 publications

References 20 publications

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study

Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination

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