Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

Zhang, H.; Gao, Ya; Jiang, F.; Fu, Meili; Yuan, Yuying; Guo, Yaosong; Zhu, Zhanping; Lin, Mengmeng; Liu, Q.; Tian, Zhongming; Chen, F.; Lau, Tze Kin; Zhao, Lijian; Yi, Xin; Yin, Ye; Wang, W.

doi:10.1002/uog.14792

Cited by 329 publications

(365 citation statements)

References 41 publications

Supporting

Mentioning

319

Contrasting

Unclassified

Order By: Relevance

“…24 The NPV approached 100% for Down ACMG StAteMent syndrome in these studies. Similarly, for Patau and Edwards syndromes, the PPVs after NIPS (Patau 33-90%, Edwards 50-70%) 24,25 were superior to those with conventional screening (Patau 14%, Edwards 3.4%) 24 and the NPV was 100% for both conditions. 23,24 High PPV provides benefits to patients by enabling them to more easily weigh the advantages and disadvantages of followup diagnostic testing.…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 86%

“…Thus, in clinical validation studies, NIPS was shown to outperform conventional screening approaches. [23][24][25] • Clinical utility refers to whether a screening test is reliable and useful to patients. Clinical utility studies inform patients, providers, and payers about decision making.…”

Section: Acmg Statementmentioning

confidence: 99%

“…3 Recent clinical utility trials [23][24][25]37 compared NIPS to conventional screening methods for women at low risk or average risk compared to women at high risk. The DR, SPEC, PPV, and NPV for Patau, Edwards, and Down syndromes were reported.…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

“…Clinical utility, measured as PPV and NPV in these studies, supports the earlier ACMG position, and several professional organizations have subsequently altered their positions. [38][39][40] Data from two large studies show that for "low risk women", the PPV for Down syndrome after NIPS was 50-81% (N=55,244) 24,25 , and for "high risk women" this was 94% (N=72,382). 25 NIPS and conventional screening were compared and showed NIPS was superior with regards to PPV (80.9 vs. 3.4%, N=15,841).…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

“…[38][39][40] Data from two large studies show that for "low risk women", the PPV for Down syndrome after NIPS was 50-81% (N=55,244) 24,25 , and for "high risk women" this was 94% (N=72,382). 25 NIPS and conventional screening were compared and showed NIPS was superior with regards to PPV (80.9 vs. 3.4%, N=15,841). 24 The NPV approached 100% for Down ACMG StAteMent syndrome in these studies.…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

See 4 more Smart Citations

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

583

560

View full text Add to dashboard Cite

guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

show abstract

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 86%

Section: Acmg Statementmentioning

confidence: 99%

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

See 3 more Smart Citations

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

583

560

View full text Add to dashboard Cite

show abstract

Noninvasive Prenatal Testing and Detection of Maternal Cancer

Romero

Mahoney

2015

JAMA

View full text Add to dashboard Cite

Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy (an abnormal number of chromosomes) using massive parallel sequencing of cell-free DNA (cfDNA) from maternal blood is gaining rapid acceptance in obstetrics, given its high sensitivity and specificity for the detection of trisomies 21, 18, and 13. Placental DNA, a surrogate of fetal DNA, enters the maternal bloodstream via apoptosis of trophoblasts in the intervillous space of the placenta, where it mixes with cfDNA of maternal origin. The fetal fraction in this mixture usually varies between 3% and 15% in the late first and second trimesters. NIPT represents a form of advanced screening, and positive results consistent with aneuploidy require confirmation by a diagnostic test using material obtained via amniocentesis or chorionic villus sampling (CVS). 1,2

show abstract

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2017

Cochrane Database of Systematic Reviews

View full text Add to dashboard Cite

These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.

show abstract

Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

Abstract: Objectives To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13

Cited by 329 publications

References 41 publications

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive Prenatal Testing and Detection of Maternal Cancer

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Contact Info

Product

Resources

About