Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

2013 ◽  
Vol 16 (2) ◽  
pp. 601-607 ◽  
Author(s):  
Zornitza Stark ◽  
John Massie ◽  
Belinda McClaren ◽  
Liane Ioannou ◽  
Nicole Cousens ◽  
...  
Keyword(s):  
Current Practice ◽  
Muscular Atrophy ◽  
Fragile X ◽  
Population Based ◽  
Carrier Screening ◽  
Successful Implementation ◽  
Online Questionnaire ◽  
Screening Programs ◽  
Pregnancy Care ◽  
E Mail

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

scholarly journals Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

2007 ◽  
Vol 9 (4) ◽  
pp. 199-207 ◽  
Author(s):  
Charles M Strom ◽  
Donghui Huang ◽  
Yuanyin Li ◽  
Feras M Hantash ◽  
Jenny Rooke ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
High Throughput ◽  
Fragile X ◽  
Population Based ◽  
Carrier Screening

scholarly journals Population-based Carrier Screening and Prenatal Diagnosis of Fragile X Syndrome in East Asian Populations

2020 ◽  
Author(s):  
Qiwei Guo ◽  
Yih Yuan Chang ◽  
Chien Hao Huang ◽  
Yu Shan Hsiao ◽  
Yu Chiao Hsiao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
East Asian ◽  
Population Based ◽  
Carrier Screening ◽  
Asian Populations

Impact of a national population-based carrier-screening program on spinal muscular atrophy births

2020 ◽  
Vol 30 (12) ◽  
pp. 970-974
Author(s):  
Sharon Aharoni ◽  
Yoram Nevo ◽  
Naama Orenstein ◽  
Lina Basel-Salmon ◽  
Shay Ben-Shachar ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Population Based ◽  
Carrier Screening ◽  
National Population

scholarly journals Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis

2015 ◽  
Vol 17 ◽  
Author(s):  
Indhu-Shree Rajan-Babu ◽  
Hai-Yang Law ◽  
Chui-Sheun Yoon ◽  
Caroline G. Lee ◽  
Samuel S. Chong
Keyword(s):  
Fragile X Syndrome ◽  
Large Scale ◽  
Fragile X ◽  
Population Based ◽  
Molecular Diagnostic ◽  
First Line ◽  
Cgg Repeat ◽  
Screening Programs ◽  
Repeat Size ◽  
Closed Tube

Premutation and full-mutation hyperexpansion of CGG-triplets in the X-linkedFragile X Mental Retardation 1(FMR1) gene have been implicated in fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome (FXS), respectively. The currently available molecular diagnostic tests are either costly or labour-intensive, which prohibits their application as a first-lineFMR1test in large-scale population-based screening programs. In this study, we demonstrate the utility of a simplified closed-tube strategy for rapid first-line screening of FXS based on melt peak temperature (Tm) analysis of direct triplet-primed polymerase chain reaction amplicons (dTP-PCR MCA). In addition, we also evaluated the correlation betweenTmand CGG-repeat size based on capillary electrophoresis (CE) of dTP-PCR amplicons. The assays were initially tested on 29FMR1reference DNA samples, followed by a blinded validation on 107 previously characterised patient DNA samples. The dTP-PCR MCA produced distinct melt profiles of higherTmfor samples carrying an expanded allele. Among the samples tested, we also observed a good correlation betweenTmand CGG-repeat size. In the blinded validation study, dTP-PCR MCA accurately classified all normal and expansion carriers, and theFMR1genotypic classification of all samples was completely concordant with the previously determined genotypes as well as the dTP-PCR CE results. This simple and cost-effective MCA-based assay may be useful as a first-line FXS screening tool that could rapidly screen out the large majority of unaffected individuals, thus minimising the number of samples that need to be analysed by Southern blot analysis.

scholarly journals Population-based Carrier Screening for Spinal Muscular Atrophy in Saudi Arabia

2021 ◽  
Author(s):  
Mohammed Al Jumah ◽  
Saad Al Rajeh ◽  
Wafaa Eyaid ◽  
Ahmed Al-Jedai ◽  
Hajar Al Mudaiheem ◽  
...  
Keyword(s):  
Carrier Frequency ◽  
Causes Of Death ◽  
Muscular Atrophy ◽  
Population Level ◽  
Population Based ◽  
Carrier Screening ◽  
Type I ◽  
Type Ii ◽  
Level Data ◽  
Spinal Muscular Dystrophy

Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in children from heritable diseases. It is reported that the incidence of SMA is higher in the Saudi population. 4198 healthy volunteers between 18 to 25 years old were included in this study of which (54.7% males vs 45.3% females). Whole blood was spotted from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. Carrier frequency and population-level data were used to estimate the prevalence of SMA in the population utilizing the life table method. Results showed the presence of one copy of the SMN1 gene in 108 samples, two copies in 4090 samples, and a carrier frequency of 2.6%. Carrier figurine was twofold in females and 27% of participants were children of first-cousin marriages. The birth incidence of SMA was estimated to be 32 per 100,000 birth and the total number of people living with SMA in KSA to be 2,265 of which 188 are type I, 1,213 are type II, and 864 are type III. The SMA carrier rate of 2.6 % in Saudi subjects is slightly higher than the reported global frequency with links to the consanguineous marriages.

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