Article

Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian Cohort

2025-07-11

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> This study evaluates the diagnostic utility of low-pass whole genome sequencing (LP-WGS) for the detection of chromosomal abnormalities in Amniotic fluid samples (AFS), Chorionic villi samples (CVS) and Product of conception (POC) samples from India. <h4>Methods</h4> A total of 1508 prenatal samples including - AFS, CVS and POC were analyzed using LP-WGS at either low-resolu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c895e190-b4ff-59c7-b898-25c5fa9e861b
DOI: 10.1101/2025.07.07.25330717

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian CohortDOI 10.1101/2025.07.07.25330717Read

Low Pass Whole Genome sequencing - a cost-effective new technique for the identification of aneuploidies and copy number variations: a study of 1372 clinical samples in an Indian cohortSemantic proximity Read

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

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.Semantic proximity Read

Combined application of CNV-seq and whole-exome sequencing for testing fetal abnormalities:a retrospective analysisSemantic proximity Read

Understanding Pathogenic Detection Rates of CNVs in Prenatal Diagnosis: Insights from a Cohort StudySemantic proximity Read

Efficacy of copy-number variation sequencing technology in prenatal diagnosisSemantic proximity Read

Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk PregnanciesSemantic proximity Read

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel SequencingSemantic proximity Read

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

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnosticsSemantic proximity Read

Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnanciesSemantic proximity Read

Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving ApplicationsSemantic proximity Read