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 ...
Tag: prenatal genetic testing
ClinGen framework reveals recurrent CNV burden in diagnostic microarray series
A ClinGen-anchored review of 2,062 constitutional microarray cases found that recurrent CNVs formed about one-quarter of pathogenic findings, but prenatal ...
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 ...
Novel TCF4 Splicing Variant Linked to Pitt-Hopkins Syndrome
For decades, doctors have measured a thin pocket of fluid at the back of the fetal neck during routine first-trimester ...
Machine Learning May Make Prenatal Genetic Testing More Reliable
Advances in genome sequencing are opening a new window onto fetal health, allowing clinicians to examine an unborn baby’s DNA ...
In Utero Precision Medicine for Early Neurogenetic Disease
In recent years, the field of precision medicine has propelled a seismic shift in how genetic diseases are diagnosed and ...
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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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