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Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

Overview of attention for article published in Journal of Translational Medicine, August 2015
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (74th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

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2 tweeters
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1 patent

Citations

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23 Dimensions

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44 Mendeley
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Title
Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes
Published in
Journal of Translational Medicine, August 2015
DOI 10.1186/s12967-015-0569-y
Pubmed ID
Authors

Roger V Lebo, Robert W Novak, Katherine Wolfe, Melonie Michelson, Haynes Robinson, Melissa S Mancuso

Abstract

The American College of Obstetrics and Gynecology (ACOG) and Maternal Fetal Medicine (MFM) Societies recommended that abnormal cfDNA fetal results should be confirmed by amniocentesis and karyotyping. Our results demonstrate that normal cfDNA results inconsistent with high-resolution abnormal ultrasounds should be confirmed by karyotyping following a substantial frequency of incorrect cfDNA results. Historical review of our ~4,000 signed prenatal karyotypes found ~24% of reported abnormalities would not have been detected by cfDNA. Akron Children's Hospital Cytogenetics Laboratory has completed 28 abnormal cfDNA cases among the 112 amniocenteses karyotyped. Following abnormal cfDNA results our karyotypes confirmed only 60% of the cfDNA results were consistent. Our cases found a normal cfDNA test result followed by a 20 weeks anatomical ultrasound detected a false negative trisomy 18 cfDNA result. One cfDNA result that reported trisomy 21 in the fetus was confirmed by karyotyping which also added an originally undetected balanced reciprocal translocation. Another reported karyotyped case followed by a repeated microarray of pure fetal DNA, together revealed one phenotypically normal newborn with a complex mosaic karyotype substantially decreasing the newborn's eventual reproductive fitness. This second case establishes the importance of karyotyping the placenta and cord or peripheral blood when inconsistent or mosaic results are identified following an abnormal cfDNA result with a normal newborn phenotype without a prenatal karyotype. These Maternal Fetal Medicine referrals demonstrate that positive NIPT results identify an increased abnormal karyotypic frequency as well as a substantial proportion of discordant fetal results. Our results found: (1) a normal NIPT test result followed by a 20 week anatomical ultrasound detected a false negative trisomy 18 NIPT result, (2) a substantial proportion of abnormal NIPT tests identify chromosomal mosaicism that may or may not be confined to the placenta, (3) follow up karyotyping should be completed on the newborn placenta and peripheral blood when the amniocyte karyotype does not confirm the NIPT reported abnormality in order to identify ongoing risk of developing mosaic symptoms, and (4) karyotyping all high risk fetuses tested by amniocentesis defines the 24% of chromosome abnormalities not currently screened by NIPT.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Ireland 1 2%
Unknown 43 98%

Demographic breakdown

Readers by professional status Count As %
Other 10 23%
Student > Master 9 20%
Student > Ph. D. Student 7 16%
Researcher 7 16%
Professor > Associate Professor 3 7%
Other 4 9%
Unknown 4 9%
Readers by discipline Count As %
Medicine and Dentistry 16 36%
Biochemistry, Genetics and Molecular Biology 14 32%
Agricultural and Biological Sciences 5 11%
Philosophy 1 2%
Pharmacology, Toxicology and Pharmaceutical Science 1 2%
Other 1 2%
Unknown 6 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 June 2017.
All research outputs
#2,694,134
of 11,332,834 outputs
Outputs from Journal of Translational Medicine
#396
of 2,186 outputs
Outputs of similar age
#59,188
of 235,151 outputs
Outputs of similar age from Journal of Translational Medicine
#18
of 112 outputs
Altmetric has tracked 11,332,834 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,186 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has done well, scoring higher than 81% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 235,151 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 112 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 83% of its contemporaries.