Ultrasound Soft Markers in Younger Pregnant Women Flag Real CNV Risk, Study Finds
A retrospective Chinese study of 472 fetuses with non-structural ultrasound abnormalities in pregnant women under 35 found pathogenic or likely ...
Tag: genetic counseling
Most BRCA Carriers With Breast Cancer Undergo Ovary Removal Within Two Years
A retrospective single-center study of 148 patients found that two-thirds of women with germline BRCA-mutated breast cancer underwent risk-reducing salpingo-oophorectomy, ...
Prenatal Genomics Can Detect Autism-Linked Variants but Cannot Predict Autism
A new review argues that prenatal genomic testing can detect autism-linked variants but cannot predict autism in an individual fetus.
Novel TBX4 Variant Linked to Fatal Neonatal Lung Failure in Two Siblings
Two siblings with fatal neonatal respiratory failure carried a novel heterozygous TBX4 variant inherited from their unaffected father, a case ...
Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Experts Build a Framework for Telling Families What Autopsies Reveal After Sudden Cardiac Death
Forensic specialists from seven Balkan institutions have drawn up a structured, ethics-based pathway for communicating autopsy findings to bereaved families ...
Maternal Balanced Translocation Behind Recurrent Fetal Holoprosencephaly in Case Report
A Chinese case report links nine consecutive failed pregnancies to a maternal balanced translocation between chromosomes 3 and 13, with ...
University-linked adults in Palestine show strong thalassemia awareness but low screening uptake
A cross-sectional survey of 1,103 adults in Palestine found that half met a good knowledge threshold for thalassemia and two-thirds ...
High-Risk NIPT Results Confirmed in Only Half of 1,326 Pregnancies, Study Finds
A ten-year Chinese cohort study found that only 48.87% of high-risk non-invasive prenatal testing results were confirmed by invasive diagnostic ...
Long-read sequencing expands the genetic picture of Angelman syndrome in Chinese children
A study of 13 Chinese children with Angelman syndrome identified three novel UBE3A variants and used PacBio long-read sequencing to ...
-
Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
-
University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
-
Bee body mass, pathogens and local climate influence heat tolerance
-
Researchers record first-ever images and data of a shark experiencing a boat strike
-
Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
Embark on a thrilling journey of discovery with Scienmag.com—your ultimate source for cutting-edge breakthroughs. Immerse yourself in a world where curiosity knows no limits and tomorrow’s possibilities become today’s reality!