Hidden Chromosome Variants May Distort Fertility Diagnoses, Study of 7,530 Patients Warns
A seven-year study of 7,530 Chinese patients undergoing reproductive genetic counseling found that benign chromosomal polymorphisms accounted for more than ...
Tag: genetic counseling
Rare Chromosome 15 Duplication Syndrome Often Evades Prenatal Detection, Case Analysis Reveals
A new case report and pooled analysis of 35 prenatal cases shows that 15q duplication syndrome frequently escapes prenatal detection ...
Adolescence Emerges as Decisive Window for Fertility Care in Congenital Adrenal Hyperplasia
A new review maps how congenital adrenal hyperplasia disrupts fertility and psychosexual development in adolescents and argues that early, multidisciplinary ...
Fetal Gene Test Uncovers BICD2 Mutation Behind Congenital Knee Dislocation
A Chinese case report documents the prenatal ultrasound detection of congenital knee dislocation and traces it to a de novo ...
Prenatal detectives: a 10.42 Mb homozygous chromosome 6 segment with a normal baby
A new case report describes how chromosomal microarray and trio whole-exome sequencing revealed a 10.42 Mb homozygous segment on chromosome ...
Simple DNA Biosensor Delivers Rapid Screening for Southeast Asian α-Thalassemia Deletion
Thai researchers have developed a one-step LAMP and lateral flow dipstick biosensor that detects the Southeast Asian α-thalassemia 1 deletion ...
Pregnancy Is Now Within Reach for Women With Severe Beta-Thalassemia, Landmark Review Finds
A new narrative review in the Annals of Hematology distills forty evidence-based recommendations showing that women with transfusion-dependent beta-thalassemia can ...
Cancer Survivors Lead the Way in Genetic Testing, but Rural Gaps Persist, National Survey Finds
A nationally representative study of more than 27,000 U.S. adults finds that a personal cancer history strongly increases engagement with ...
Personalized Navigation Boosts Hereditary Cancer Genetic Testing Among Relatives
A randomized trial at MD Anderson Cancer Center found that personalized navigation support raised BRCA genetic testing uptake among at-risk ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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