2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Targeted application of genome-wide cell-free DNA (GWcfDNA) non-invasive prenatal screening (NIPS)

Pdf Summary

A study conducted by Noura Osman et al. at the UC Davis Health in Sacramento, CA, examined the clinical application of genome-wide cell-free DNA (GWcfDNA) non-invasive prenatal screening (NIPS) in a targeted pregnant population. The goal was to assess the effectiveness of GWcfDNA in detecting chromosomal anomalies compared to conventional NIPS. <br /><br />The study included 21 pregnant patients between 2015-2022 who had early onset fetal growth restriction (FGR) or fetal anomalies on ultrasound, or a family history of chromosomal abnormalities. None of the patients opted for genetic amniocentesis, and instead, they were offered MaterniT Genome® WGcfDNA screening.<br /><br />Out of the 15 women who chose GWcfDNA screening, two high-risk results were identified. One fetus had trisomy 18 with early onset FGR and cleft lip/palate, and another had chromosomal imbalance consistent with a known paternal balanced translocation. The majority of women who opted for GWcfDNA were Hispanic, followed by Northern European and Middle Eastern backgrounds. Most had Medicaid health insurance.<br /><br />The researchers concluded that GWcfDNA is a more comprehensive genetic evaluation compared to routine cell-free DNA screening and should be offered to patients who decline diagnostic testing but have pregnancies at risk for chromosomal abnormalities. They also noted that the MaterniT Genome® WGcfDNA screen through Integrated Genetics was effective in identifying trisomies, monosomies, copy number variants, and microdeletions.<br /><br />In summary, the study demonstrated the efficacy of targeted application of GWcfDNA for prenatal screening in detecting chromosomal anomalies. It highlighted the importance of offering GWcfDNA to pregnant patients with fetal anomalies or a family history of chromosomal abnormalities who decline invasive diagnostic testing.

Asset Subtitle

Presenting Author - Noura Osman, MSc; Co-Author - Krishna R. Singh, MD, FACMG, FACOG; Co-Author - Herman L. Hedriana, MD; Co-Author - Laura Campos, Medical Assistant; Co-Author - Laila Rhee, MS; Co-Author - Nina M. Boe, MD;

Meta Tag

Bioinformatics

Cell free DNA/cfDNA

Chromosomal Abnormalities

Counseling

Education

Genome sequencing

Genomic Methodologies

Genotype-Phenotype Correlations

Malformation

Prenatal Diagnosis

Psychosocial Counseling Issues

Psychosocial Issues

Ultrasound

Co-Author Krishna R. Singh, MD, FACMG, FACOG

Co-Author Herman L. Hedriana, MD

Co-Author Laura Campos, Medical Assistant

Co-Author Laila Rhee, MS

Co-Author Nina M. Boe, MD

Presenting Author Noura Osman, MSc

Keywords

genome-wide cell-free DNA

non-invasive prenatal screening

chromosomal anomalies

fetal growth restriction

genetic amniocentesis

MaterniT Genome WGcfDNA screening

trisomy 18

paternal balanced translocation

copy number variants

prenatal screening