2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success

Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success

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Pdf Summary

This study analyzed the results of noninvasive prenatal screening (NIPS), which detects chromosomal abnormalities in the fetus. The study aimed to identify variables associated with initial no-call reports and estimate the success rate of redraw samples. Logistic regression analysis was performed using various variables.<br /><br />The results showed that maternal age, weight, and gestational age were associated with initial no-call reports due to low fetal fraction (LF). The study found that higher maternal weight and lower gestational age were risk factors for LF no-call results. The findings were consistent with previous reports.<br /><br />The study also found that higher gestational age was associated with initial no-call reports due to failed model fitness (FM). Very high gestational age (>25 weeks) was identified as a risk factor for FM no-call results. <br /><br />To estimate redraw success rate, factors such as fetal cfDNA fraction (FF), sequencing reads, fetal sex, and maternal weight and age were analyzed. The combination of FF and maternal weight was found to predict redraw success for LF no-call results. A multifactorial score based on maternal weight, age, and sequencing reads successfully predicted redraw success for FM no-call results.<br /><br />The study concluded that maternal weight and gestational age are associated with no-call results due to LF, while higher gestational age is associated with no-call results due to FM. The combination of FF and maternal weight can predict redraw success for LF no-call results, and a multifactorial score can predict redraw success for FM no-call results.<br /><br />Overall, the study provides insights into the factors influencing no-call results in NIPS and offers strategies for improving redraw success rates.

Asset Subtitle

Presenting Author - Chuan Gao, PhD; Co-Author - Jonathan Mccafferty, PhD; Co-Author - Brent Calder, PhD; Co-Author - Matthew M. Meredith, PhD; Co-Author - Lisa Edelmann, PhD, FACMG; Co-Author - Rebekah S. Zimmerman, PhD, FACMG; Co-Author - Yoshiko Mito, PhD, FACMG;

Meta Tag

Noninvasive prenatal screening (NIPS)

Co-Author Jonathan Mccafferty, PhD

Co-Author Brent Calder, PhD

Co-Author Matthew M. Meredith, PhD

Co-Author Lisa Edelmann, PhD, FACMG

Co-Author Rebekah S. Zimmerman, PhD, FACMG

Co-Author Yoshiko Mito, PhD, FACMG

Presenting Author Chuan Gao, PhD

Keywords

noninvasive prenatal screening

chromosomal abnormalities

fetus

no-call reports

low fetal fraction

maternal age

maternal weight

gestational age

failed model fitness

redraw success rate