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Genetic Testing in Reproductive Medicine
This textbook illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic...
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Prenatal Genetic Testing
Screening pregnancies for genetic disorders has become an integral part of antenatal care. Presently, a wide variety of prenatal screening tests in...
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Preimplantation Genetic Testing
The two most crucial factors limiting the success of assisted reproduction are the quality of the embryo and the endometrium. The lacuna in the...
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Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreatic cancer. This...
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Preimplantation Genetic Testing (PGT)
Preimplantation Genetic Testing (PGT) is a genetic analysis performed during an IVF cycle to select non-affected embryos for transfer. PGT is...
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Genetic Testing
Genetic testing for inherited eye diseases offers an important opportunity to assess genetic risk within a family, to inform genetic counseling and...
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Diagnostic Genetic Testing Core Concepts and the Wider Context for Human DNA Analysis
Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance...
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Genetic Testing in Male Infertility
The problem of infertility is rising rapidly. Male fertility is greatly influenced by genetic factors, with chromosomal abnormalities and...
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Nigerian parents’ perspectives on genetic testing in their children with genetic eye diseases
The decision for genetic testing in children is usually taken by their parents or caregivers, and may be influenced by sociocultural and ethical...
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Pre-Implantation Genetic Testing
A majority of miscarriages occur as a result of aneuploidy. Pre-implantation genetic testing for aneuploidy (PGT-A) may be able to identify these...
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Expanding access to genetic testing for pancreatic cancer
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5–10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene....
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Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity
Purpose of ReviewThe goal of this paper is to aggregate information on monogenic contributions to obesity in the past five years and to provide...
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TP53 Genetic Testing and Personalized Nutrition Service
TP53 is one of the tumor suppressor genes found to be highly correlated with human tumor development, this gene can sense stress or damage to cells...
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Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD....
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Direct-to-Consumer Genetic Testing: A Comprehensive Review
Emerged in the early 2000s, direct-to-consumer (DTC) genetic testing has helped consumers access and understand their genetic information without the...
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Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing
AbstractPrenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging....
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Genetic Testing in Recurrent Pregnancy Loss
Human pregnancy is a surprisingly inefficient process; approximately 5–10% of clinically recognized pregnancies end in miscarriages. Approximately...
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Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach
Genetic counseling and testing are more accessible than ever due to reduced costs, expanding indications and public awareness. Nonetheless, many...
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Racial Disparities in Breast Cancer Genetic Testing May be Mitigated by Counseling
BackgroundCurrently, racial disparities exist in access to genetic testing. Recent developments have helped narrow the gap in accessibility. The...
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Idiopathic ventricular fibrillation: is it a case for genetic testing?
Idiopathic ventricular fibrillation (IVF) is a diagnosis of exclusion in sudden cardiac arrest (SCA) survivors. Although there are clear guidelines...
