Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population.

Genes - 25 Jan 2026

Schwartz Stuart, Best Robert G

Abstract excerpt

OBJECTIVES: The overall objective of this study is to examine prenatal patients ascertained without an abnormal ultrasound (US) or an abnormal cell-free DNA (cfDNA) finding to provide a unique understanding of pathogenic copy number variants, identity by descent (IBD) and variants of uncertain significance (VUSs) in a normal population. METHODS: This study retrospectively provides an analysis of over 28,362...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell-Free Nucleic Acids
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Microarray Analysis

Share to Oligonucleotide Array Sequence Analysis

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 41751512
DOI: 10.3390/genes17020127
PMCID: PMC12941352

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population.PMID 41751512Read ↗

Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.Semantic proximity Read ↗

Universal chromosomal microarray analysis reveals high proportion of copy‐number variants in low‐risk pregnanciesSemantic proximity Read ↗

Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnanciesSemantic proximity Read ↗

Development and Validation of a Non-invasive cfDNA Assay for Dominant Monogenic Disorders in Pregnancies Stratified by Ultrasound RiskSemantic proximity Read ↗

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Semantic proximity Read ↗

Advancements in Prenatal Genetics: Emerging Technologies and Evolving ApplicationsSemantic proximity Read ↗

Prenatal detection of copy number variants.Semantic proximity Read ↗

The impact of human copy number variation on a new era of genetic testingSemantic proximity Read ↗

Enhanced Detection of Genetic Abnormalities in High-Risk Pregnancies Using CNV-Seq Compared to KaryotypingSemantic proximity Read ↗

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective studySemantic proximity Read ↗

Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosisSemantic proximity Read ↗

Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal ageSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.