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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Petersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.

American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1-691.e6 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Autor: Petersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.
Assuntos: 47,XXX ; 47,XXY ; 47,XYY ; Amniocentesis ; Angelman Syndrome - blood ; Angelman Syndrome - diagnosis ; Angelman Syndrome - genetics ; cell-free DNA ; Cell-Free Nucleic Acids - blood ; Chorionic Villi Sampling ; Chromosome Disorders - blood ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Chromosomes, Human, X - genetics ; Cri-du-Chat Syndrome - blood ; Cri-du-Chat Syndrome - diagnosis ; Cri-du-Chat Syndrome - genetics ; Down Syndrome - blood ; Down Syndrome - diagnosis ; Down Syndrome - genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Klinefelter Syndrome - blood ; Klinefelter Syndrome - diagnosis ; Klinefelter Syndrome - genetics ; Microarray Analysis ; microdeletion syndrome ; NIPT ; noninvasive prenatal screening ; noninvasive prenatal testing ; Prader-Willi Syndrome - blood ; Prader-Willi Syndrome - diagnosis ; Prader-Willi Syndrome - genetics ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development - blood ; Sex Chromosome Disorders of Sex Development - diagnosis ; Sex Chromosome Disorders of Sex Development - genetics ; Trisomy - diagnosis ; Trisomy - genetics ; trisomy 13 ; Trisomy 13 Syndrome - blood ; Trisomy 13 Syndrome - diagnosis ; Trisomy 13 Syndrome - genetics ; trisomy 18 ; Trisomy 18 Syndrome - blood ; Trisomy 18 Syndrome - diagnosis ; Trisomy 18 Syndrome - genetics ; trisomy 21 ; Turner Syndrome - blood ; Turner Syndrome - diagnosis ; Turner Syndrome - genetics
É parte de: American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1-691.e6
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion syndrome and 21% for 22q11.2 deletion syndrome. Detection of sex chromosomal aneuploidies had positive predictive values of 26% for monosomy X, 50% for 47,XXX, and 86% for 47,XXY. The positive predictive values for detection of common autosomal and sex chromosomal aneuploidies by cell-free fetal DNA screening were comparable with other studies. Identification of microdeletions was associated with lower positive predictive values and higher false-positive rates, likely because of the low prevalence of the individual targeted microdeletion syndromes in the general population. Although the obtained positive predictive values compare favorably with those seen in traditional screening approaches for common aneuploidies, they highlight the importance of educating clinicians and patients on the limitations of cell-free fetal DNA screening tests. Improvement of the cell-free fetal DNA screening technology and continued monitoring of its performance after introduction into clinical practice will be important to fully establish its clinical utility. Nonetheless, our data provide valuable information that may aid result interpretation, patient counseling, and clinical decision making/management.
Editor: United States: Elsevier Inc
Idioma: Inglês

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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Petersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.

United States: Elsevier Inc

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