Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

Gregg, Anthony R.; Skotko, Brian G.; Benkendorf, Judith; Monaghan, Kristin G.; Bajaj, Komal; Best, Robert G.; Klugman, Susan; Watson, Michael S.

doi:10.1097/ogx.0000000000000403

Cited by 32 publications

(49 citation statements)

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“…The content of this document reflects the national and international guidelines related to the use of ultrasound in women who have undergone or who are considering cfDNA screening. [1][2][3][4]8,16,17,[19][20][21] Organization Title…”

Section: Guidelinesmentioning

confidence: 99%

The role of ultrasound in women who undergo cell-free DNA screening

Norton

Biggio

Kuller

et al. 2017

American Journal of Obstetrics and Gynecology

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The introduction of cell-free DNA screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cell-free DNA screening. The following are Society for Maternal-Fetal Medicine recommendations: (1) in women who have already received a negative cell-free DNA screening screen, ultrasound at 11-14 weeks of gestation solely for the purpose of nuchal translucency measurement (Current Procedural Terminology code 76813) is not recommended (grade 1B); (2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cell-free DNA screen (grade 2B); (3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cell-free DNA screen, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first- or second-trimester screening result, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (grade 1A); and (6) we recommend against routine screening for microdeletions with cell-free DNA screening (grade 1B).

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Section: Guidelinesmentioning

confidence: 99%

The role of ultrasound in women who undergo cell-free DNA screening

Norton

Biggio

Kuller

et al. 2017

American Journal of Obstetrics and Gynecology

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“…5 Most national and international organizations now recognize NIPT as a highly sensitive screening test that can reduce the need for invasive testing when it is used in high-risk pregnancies. [6][7][8] Over the same time period, there has been a move to replace traditional karyotyping following invasive testing with microarray analysis 9 , which increases detection of pathogenic chromosomal rearrangements to include microdeletion and microduplication syndromes. 1,2,4 There are concerns that widespread implementation of NIPT stands to decrease the detection of these other pathogenic rearrangements.…”

Section: Introductionmentioning

confidence: 99%

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

Karampetsou

Boustred

et al. 2016

Obstetrical &Amp; Gynecological Survey

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The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a calling pipeline based on a segmentation algorithm for the detection of these rearrangements in maternal plasma. The same read depth used in our standard pipeline for aneuploidy NIPT detected 15/18 (83%) samples with pathogenic rearrangements > 6 Mb but only 2/10 samples with rearrangements < 6 Mb, unless they were maternally inherited. There were two false-positive calls in 534 samples with no known subchromosomal abnormalities (specificity 99.6%). Using higher read depths, we detected 29/31 fetal subchromosomal abnormalities, including the three samples with maternally inherited microduplications. We conclude that test sensitivity is a function of the fetal fraction, read depth, and size of the fetal CNV and that at least one of the two false negatives is due to a low fetal fraction. The lack of an independent method for determining fetal fraction, especially for female fetuses, leads to uncertainty in test sensitivity, which currently has implications for this technique's future as a clinical diagnostic test. Furthermore, to be effective, NIPT must be able to detect chromosomal rearrangements across the whole genome for a very low false-positive rate. Because standard NIPT can only detect the majority of larger (>6 Mb) chromosomal rearrangements and requires knowledge of fetal fraction, we consider that it is not yet ready for routine clinical implementation.

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“…FF is based on the sequencing results of NIPS and is calculated using chrY concentration or algorithms of generalized linear regression such as seqFF [9]. It is conformed that FF lower than 3.5%-4% is a key factor may cause no-call reports or false positive and negative results [10,11]. The American College of Medical Genetics and Genomics (ACMG) supported that a clearly visible fetal fraction should be included on NIPS reports [11].…”

Section: Introductionmentioning

confidence: 99%

“…It is conformed that FF lower than 3.5%-4% is a key factor may cause no-call reports or false positive and negative results [10,11]. The American College of Medical Genetics and Genomics (ACMG) supported that a clearly visible fetal fraction should be included on NIPS reports [11]. It is significant to determine whether FF is too low to ensure the quality of NIPS results.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive predictive method for low fetal fraction in noninvasive prenatal screening

Hu¹,

Pei²,

Luo³

et al. 2020

Preprint

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BackgroundThe study was a retrospective cohort analysis based on the results of noninvasive prenatal screening (NIPS), complete blood count, thyroxin test and Down's syndrome screening in first or second trimester from 14043 pregnant women. Random forests algorithm was applied to predict the low fetal fraction of cell free DNA (with FF lower than 10th percentile) through individual and laboratory information. Performance of the model was evaluated and compared to prediction using maternal weight.To investigate factors associated with lower FF in the NIPS and to develop a new predictive method for low FF before NIPS. ResultsOf 14043 cases, maternal weight, RBC, HGB and free T3 were significantly negative correlated with FF while gestation age, free T4, PAPP-A, AFP, uE3 and β-hCG were significantly positive correlated with FF. Compared to prediction using maternal weight as isolated parameter, the model has a higher area under curve(AUC) of Receiver Operating Characteristic (ROC) and overall accuracy. ConclusionsThe comprehensive predictive method based on combined multiple factors was more effective than single-factor model in low FF status prediction. This method can provide more information for clinical choice and pre-test quality control of NIPS.

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Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

Cited by 32 publications

References 0 publications

The role of ultrasound in women who undergo cell-free DNA screening

The role of ultrasound in women who undergo cell-free DNA screening

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

A comprehensive predictive method for low fetal fraction in noninvasive prenatal screening

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