Seven-year follow-up documents partial chromosome 19p duplication
A seven-year case study of a prenatal 19p13.3–p13.2 duplication found persistent developmental and growth problems alongside variable effects on hearing, ...
Tag: prenatal diagnosis
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 ...
Rare Prenatal Duplication on Chromosome 16 Reveals a Genetic Puzzle With Mostly Reassuring Outcomes
A decade-long Chinese cohort study followed 19 fetuses with 16p13.11 microduplication and found that most children developed normally, highlighting the ...
Early Fetal Bladder Shunt May Soften Prune Belly Syndrome, Case Report Suggests
A rare case report suggests that early fetal bladder decompression with a vesicoamniotic shunt may attenuate the phenotypic severity of ...
Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency
A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic ...
Fetal MRI Reveals Signature Features of Enteric Duplication Cysts
A retrospective study of 36 pathologically confirmed cases maps the prenatal MRI signature of fetal enteric duplication cysts, highlighting a ...
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 ...
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 ...
One in 4,000 US Infants Diagnosed With Congenital Lung Malformations, National Study Finds
A national insurance database analysis finds that about 2.15 per 10,000 US infants are diagnosed with congenital lung malformations, with ...
AI Reads Fetal MRI Lungs in Seconds, Transforming Prenatal Risk Assessment
A deep learning model segments fetal lungs on MRI in about four seconds with expert-level accuracy across diverse pulmonary hypoplasia ...
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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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