Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families

Abstract

Overall, 19 of 24 (79%) molecular prenatal diagnoses were informative, indicating that multiplex PCR/STR segregation analysis is a reliable method for carrier detection and prenatal diagnosis when other more sophisticated techniques are unavailable.

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

“…The recombination frequency expected for the dystrophin gene based on its size (2.4 Mb) is 2.4%; however, the observed frequency was higher (6-10%) than expected according to previous reports. [32][33][34][35] How to accurately infer the fetal inherited allele for recombination cases remains an area for future effort. With the development of new bioinformatics models and improvements in haplotyping, we believe that noninvasive prenatal testing could provide a preliminary screening approach for most at-risk pregnant women.…”

Molecular diagnosis of dystrophinopathies using a multi‐technique analysis algorithm

“…The aim of segregation analysis is to identify the at‐risk haplotype that cosegregates with the mutation in the affected individuals and in the obligate carriers within the family. One of the most relevant advantages of these studies is that there is no restrictive need to identify the disease‐causing mutation and to have access to samples from affected individuals . Comparison of haplotypes from relatives and patients (at‐risk haplotype) allows for determination of mutation carrier risk.…”

“…They can be classified into: (1) direct studies that seek and characterize the mutation; and (2) indirect studies that identify the at‐risk haplotype but do not characterize the genetic abnormality. One of the most relevant advantages of the indirect studies is that there is no restrictive need to identify the disease‐causing mutation and to have access to samples from affected individuals …”

“…One of the most relevant advantages of the indirect studies is that there is no restrictive need to identify the disease-causing mutation and to have access to samples from affected individuals. 12,13 In this study we have aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. We report the molecular analyses of 2 Argentine families with a history of DMD.…”

Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

“…Precise diagnosis requires a combination of clinical data, family history (FH), creatine kinase (CK) levels, genetic analysis (direct/indirect) [2], and in some cases, immunostaining of muscle biopsies [6]. Consequently, genetic counseling for at-risk females and prenatal diagnosis remain challenging for cases in which deep intronic mutations in the DMD are difficult to detect even with next-generation sequencing which often covers only exonic regions [7,8]. Indirect tracking of the haplotype that co-segregates with the disease within a family is required in those cases [2,6].…”