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Comprehensive chromosome FISH assessment of sperm aneuploidy in normozoospermic males
PurposeSperm chromosomal abnormalities impact male fertility and pregnancy outcomes. However, the proportion of sperm with chromosomal abnormalities...
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OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing
PurposePreimplantation genetic testing for monogenic disorders (PGT-M) allows early diagnosis in embryos conceived in vitro. PGT-M helps to prevent...
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Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes
BackgroundThe incidence of Y chromosome microdeletions varies among men with infertility across regions and ethnicities worldwide. However,...
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Advancing fetal diagnosis and prognostication using comprehensive prenatal phenoty** 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 screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis
PurposeWe aim to explore if there are any other candidate genetic variants in patients with a history of at least one hydatidiform mole (HM) besides...
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Lung Cancer in Never Smokers: Delving into Epidemiology, Genomic and Immune Landscape, Prognosis, Treatment, and Screening
Lung cancer in never smokers (LCINS) represents a growing and distinct entity within the broader landscape of lung malignancies. This review provides...
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Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations
BackgroundSpinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have...
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Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas
A prompt and reliable molecular diagnosis for brain tumors has become crucial in precision medicine. While Comprehensive Genomic Profiling (CGP) has...
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Tumors, Treatments, and Trust: Cancer Characteristics, Outcomes, and Screening Uptake in Transgender and Gender-Diverse Patients
BackgroundMore than 2.5 million adults in the United States identify as transgender or gender-diverse (TGD), but little data exist on cancer...
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Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study
BackgroundCouples with balanced chromosome rearrangement (BCR) are at high risk of recurrent miscarriages or birth defects due to chromosomally...
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Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
BackgroundThe diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric...
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Prediction of chromosomal abnormalities in the screening of the first trimester of pregnancy using machine learning methods: a study protocol
BackgroundFor women in the first trimester, amniocentesis or chorionic villus sampling is recommended for screening. Machine learning has shown...
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Characterization of loss of chromosome Y in peripheral blood cells in male Han Chinese patients with schizophrenia
BackgroundSchizophrenia (SCZ) has a global prevalence of 1% and increases the risk of mortality, reducing life expectancy. There is growing evidence...
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A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester
BackgroundAlthough the traditional contingent screening strategy is effective, there are still undetected low-risk trisomy 21. This study aims to...
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Antenatal screening for chromosomal abnormalities
Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of changes in the last 50 years. Today, cell-free DNA analysis...
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Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report
BackgroundThe 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The...
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The association between a carrier state of FMR1 premutation and numeric sex chromosome variations
PurposeWomen carriers of FMR1 premutation are at increased risk of early ovarian dysfunction and even premature ovarian insufficiency. The aim of...
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Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis
BackgroundPrimary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its...
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Fluorescent in situ hybridization has limitations in screening NRG1 gene rearrangements
BackgroundNRG1 fusion is a promising therapeutic target for various tumors but its prevalence is extremely low, and there are no standardized testing...
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Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia
Childhood B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by recurrent genetic abnormalities that drive risk-directed treatment...
