Abstract
Purpose: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. Methods: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. Results: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. Conclusions: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
| Original language | English (US) |
|---|---|
| Journal | Genetics in Medicine |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- NIPS
- NIPT
- noninvasive prenatal screens
- noninvasive prenatal tests
- trisomy 21
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. / Skotko, Brian G.; Allyse, Megan A.; Bajaj, Komal; Best, Robert G.; Klugman, Susan D.; Leach, Mark; Meredith, Stephanie; Michie, Marsha; Stoll, Katie; Gregg, Anthony R.
In: Genetics in Medicine, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations
AU - Skotko, Brian G.
AU - Allyse, Megan A.
AU - Bajaj, Komal
AU - Best, Robert G.
AU - Klugman, Susan D.
AU - Leach, Mark
AU - Meredith, Stephanie
AU - Michie, Marsha
AU - Stoll, Katie
AU - Gregg, Anthony R.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Purpose: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. Methods: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. Results: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. Conclusions: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
AB - Purpose: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. Methods: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. Results: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. Conclusions: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
KW - NIPS
KW - NIPT
KW - noninvasive prenatal screens
KW - noninvasive prenatal tests
KW - trisomy 21
UR - http://www.scopus.com/inward/record.url?scp=85063792766&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85063792766&partnerID=8YFLogxK
U2 - 10.1038/s41436-019-0485-2
DO - 10.1038/s41436-019-0485-2
M3 - Article
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
ER -