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Reproductive outcomes of single frozen-thawed embryo transfer in patients with endometriosis after preimplantation genetic testing
PurposeThe reproductive outcomes of patients with endometriosis who are infertile have attracted recent attention. We aimed to explore whether...
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Sudden unexpected death: a national programme which will establish genetic testing and cardiological screening of families in the UK
Sudden cardiac death (SCD) in young people is due to genetic cardiac causes in the majority of cases. In UK all cases have an autopsy and results are...
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The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers
PurposeTo analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome...
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Preimplantation genetic testing for monogenic disorders: clinical experience with BRCA1 and BRCA2 from 2010–2021
PurposeOur aim was to describe the reproductive decisions and outcomes of BRCA-positive patients who used preimplantation genetic testing for...
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Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India
IntroductionThere are limited data on family screening and genetic testing in pediatric cardiomyopathy from India. This study was conducted to...
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Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians’ attitudes to sociocultural differences between patients across the globe
Genetic testing has evolved rapidly over recent years and new developments have the potential to provide insights that could improve the ability to...
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Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
BackgroundBardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic...
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A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements
PurposeOur objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing...
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Longitudinal adherence to breast cancer surveillance following cancer genetic testing in an integrated health care system
PurposeScreening with mammography and breast magnetic resonance imaging (MRI) is an important risk management strategy for individuals with inherited...
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Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country
ObjectivesExplore health-care seeking behaviour among couples with pregnancies at-risk of monogenic disorders and compare time duration for obtaining...
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Prenatal Diagnostic Testing for Genetic Disorders The revolution of the Non-Invasive Prenatal Test
This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal...
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A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes
PurposeThe improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test...
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Do chromosomal inversion carriers really need preimplantation genetic testing?
PurposeThis study aimed to evaluate the rates of euploidy, aneuploidy, and mosaicism in preimplantation genetic testing for structural rearrangements...
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Frequency of embryos appropriate for transfer following preimplantation genetic testing for monogenic disease
PurposeTo identify specific likelihoods that an embryo will be classified as appropriate for transfer after preimplantation genetic testing for...
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Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases
BackgroundRestrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP)...
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QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia
BackgroundGenomic testing transforms the diagnosis and management of rare conditions. However, uncertainty exists on how to best measure genomic...
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Sex ratio of offspring is not statistically altered following pre-implantation genetic testing under a specific sex selection policy
PurposeTo determine whether the use of pre-implantation genetic testing (PGT) under a specific sex selection policy is associated with alterations in...
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A clinical study of genetic testing to guide the dosing of warfarin after heart valve replacement
ObjectiveTo explore the role of genetic testing of VKORC1 and CYP2C9 in determining the dosage of warfarin after aortic valve replacement.
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