2020
DOI: 10.3390/jcm9113517
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Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies

Abstract: Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutation is crucial to achieve optimal clinical outcome. Currently, the majority of genetic testing is performed on newborns, which has multiple disadvantages for both families and the healthcare system. We have developed a non-invasive prenatal diagnosis (NIPD) service for retinobl… Show more

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Cited by 16 publications
(15 citation statements)
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“…The analysis of fetus-derived cfDNA through a noninvasive prenatal diagnosis (NIPD) has recently been clinically implemented for several monogenetic disorders [ 63 ]. Using a combination of NGS techniques, depending on the family history, we developed NIPD for retinoblastoma [ 39 ] that offers significant advantages over both newborn and invasive prenatal testing. Testing is available for both paternally and maternally inherited RB1 mutations, as well as suspected de novo variants, where the parents are unaffected but a previous child carries a germline RB1 mutation.…”
Section: Diagnosis Of Retinoblastomamentioning
confidence: 99%
“…The analysis of fetus-derived cfDNA through a noninvasive prenatal diagnosis (NIPD) has recently been clinically implemented for several monogenetic disorders [ 63 ]. Using a combination of NGS techniques, depending on the family history, we developed NIPD for retinoblastoma [ 39 ] that offers significant advantages over both newborn and invasive prenatal testing. Testing is available for both paternally and maternally inherited RB1 mutations, as well as suspected de novo variants, where the parents are unaffected but a previous child carries a germline RB1 mutation.…”
Section: Diagnosis Of Retinoblastomamentioning
confidence: 99%
“…On the other hand, people who have access to timely treatment receive education about the pathology, as well as the risks of contracting new malignant neoplasms. Developing countries do not usually have the resources available for the treatment of retinoblastoma, compared to developed countries (29)(30)(31)(32).…”
Section: Methodsmentioning
confidence: 99%
“…Typically, RHDO is carried out using capture-based target enrichment, followed by NGS and statistical analysis for haplotype phasing and genotyping [4] . The statistical method most widely applied to RHDO analysis is SPRT [4,34,36,37,44,61,77,101,102] , although other Bayesian approaches have also been reported in the literature (e.g., the hidden Markov model) [103,104] . This review will focus primarily on the SPRT approach.…”
Section: Relative Haplotype Dosage Analysismentioning
confidence: 99%
“…Over the past decade, RHDO has been introduced into routine clinical use for NIPD of maternally inherited pathogenic variants for cystic fibrosis (CFTR) [36] , spinal muscular atrophy (SMN1/SMN2) [37] , and congenital adrenal hyperplasia (CYP21A2) [105] , as well as for X-linked Duchenne and Becker muscular dystrophies (DMD) [34] . RHDO is also under development for several other autosomal recessive conditions [101,106] , and for maternal inheritance of autosomal dominant retinoblastoma (RB1) [102] . The high sensitivity achieved with RHDO has resulted in its clinical implementation, and a major advantage is that this approach can be used even when parents carry the same pathogenic variant.…”
Section: Relative Haplotype Dosage Analysismentioning
confidence: 99%