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 ...
Tag: preimplantation genetic testing
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 ...
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 ...
Biopsy droplets provide genetic signals for potential PGT-SR applications
A single-center study found that genetic material in biopsy-related droplets can support copy-number analysis in PGT-SR cycles, with 87.32% ploidy ...
Terminal Breakpoints Shape Chromosome Segregation and Embryo Survival in Translocation Carriers
A study of 399 human embryos from reciprocal translocation carriers shows that terminal breakpoints drive 3:1 segregation and boost blastocyst ...
Spent Embryo Culture Media Test Falls Short for Aneuploidy Detection
A rigorous new study from Thailand shows that non-invasive preimplantation genetic testing using spent embryo culture media achieves only about ...
Jessica Adsit, MS, CGC, Receives the 2025 ACMG Foundation Genetic Counselor Best Abstract Award
Jessica Adsit, MS, CGC is making waves in the field of genetic counseling with her recent recognition as the 2025 ...
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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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