Prenatal Case Links Novel SMARCA4 Gene Deletion to Rare Developmental Defects
Researchers have identified a novel de novo in-frame SMARCA4 deletion in a fetus presenting with agenesis of the corpus callosum ...
Tag: prenatal diagnosis
Combined Genetic Technologies Aid Prenatal Diagnosis of Fetal Skeletal Dysplasia in China
A study of 37 singleton pregnancies in China found that combining karyotyping, copy number variation sequencing, and whole exome sequencing ...
Neuroimaging Advances Unravel Complex Fetal and Perinatal Midbrain and Hindbrain Malformations
In a pictorial review published in Pediatric Radiology, researchers demonstrated how advanced fetal magnetic resonance imaging and embryological classification facilitate ...
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 ...
Newly identified piRNA linked to congenital heart disease in foetal rats
Researchers identified the piRNA CHDPIR, upregulated in maternal plasma extracellular vesicles and foetal heart tissue in congenital heart disease, and ...
Regional prenatal genomic testing adds diagnoses, but NIPT confirmations vary sharply
A retrospective cohort of 120 amniocenteses at a regional Turkish centre found that chromosomal microarray and exome sequencing added diagnoses ...
Model suggests replacing father blood tests with NIPT would raise England’s sickle cell screening costs
A modelling study of England's 2019/2020 screening cohort estimates that replacing paternal blood testing with NIPT in the sickle cell ...
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 ...
Novel ALPL Splice-Site Mutation Identified as Cause of Severe Perinatal Hypophosphatasia
Whole exome sequencing of an aborted fetus from a consanguineous Iranian family identified a novel homozygous ALPL splice-site variant, c.863–2 ...
Survey of 31 African referral centres reveals delayed diagnosis and scarce endoscopic care for posterior urethral valves
A survey of 31 referral centres in 17 African countries found that posterior urethral valves are usually diagnosed between 1 ...
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 ...
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 ...
Emergency Embolization Rescues Newborn With Giant Forearm Hemangioma and Arteriovenous Fistula
A case report from West China Second University Hospital describes a newborn with a giant congenital hemangioma and arteriovenous fistula ...
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, ...
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 ...
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 ...
