2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Single center experience using single-gene-NIPT to evaluate fetal risk of autosomal recessive conditions

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This study focused on evaluating the use of reflex single gene non-invasive prenatal testing (sgNIPT) to assess the fetal risk of autosomal recessive conditions. The researchers conducted a retrospective cohort study of patients undergoing carrier screening with sgNIPT at a single tertiary care center. All patients received counseling before and after the test, and diagnostic testing was offered to further evaluate the screening results. Data on maternal demographic characteristics, sgNIPT results, diagnostic testing results, and partner carrier screening results were collected and analyzed. <br /><br />The results showed that 229 patients had sgNIPT during the study period. The median gestational age at the time of the test was 90 days or 12 weeks and 6 days. The majority of patients were Caucasian (36%), followed by African or African American (34%), Hispanic/Latinx (18%), Asian (4%), and other (7%). <br /><br />Of the individuals tested, 27% were identified as carriers of at least one of the tested conditions, with 9 individuals being carriers of more than one condition. The reflex sgNIPT was performed 71 times, and 94% of these provided a fetal risk assessment. <br /><br />Among the cohort, only 8.1% elected to have partner carrier screening. Five individuals had low-risk fetal results and did not undergo partner carrier screening or diagnostic testing. Six individuals had high-risk fetal results, with two undergoing partner carrier screening and one undergoing diagnostic testing. <br /><br />The study found that few patients who utilized sgNIPT completed follow-up paternal screening or fetal diagnostic testing, even when the sgNIPT showed a high risk of an affected fetus. The researchers suggest that further work is needed to assess patient understanding of screening test results and their attitudes towards genetic testing.

Asset Subtitle

Presenting Author - Asha N. Talati, MD, MS; Co-Author - Emily E. Hardisty, MS, CGC; Co-Author - Kelly L. Gilmore, MS, CGC; Co-Author - Rachel Veazey, MS, CGC; Co-Author - Ginger Hocutt, MS, CGC; Co-Author - Smriti Singh, MS, CGC; Co-Author - Madeline Dyke, MS, CGC; Co-Author - Neeta L. Vora, MD, FACMG;

Meta Tag

Noninvasive prenatal screening (NIPS)

Co-Author Emily E. Hardisty, MS, CGC

Co-Author Kelly L. Gilmore, MS, CGC

Co-Author Rachel Veazey, MS, CGC

Co-Author Ginger Hocutt, MS, CGC

Co-Author Smriti Singh, MS, CGC

Co-Author Madeline Dyke, MS, CGC

Co-Author Neeta L. Vora, MD, FACMG

Presenting Author Asha N. Talati, MD, MS

Keywords

reflex single gene non-invasive prenatal testing

sgNIPT

fetal risk

autosomal recessive conditions

retrospective cohort study

carrier screening

tertiary care center

maternal demographic characteristics

gestational age

Caucasian