DNA Sequencing versus Standard Prenatal Aneuploidy Screening

Bianchi, Diana W.; Parker, R; Wentworth, Jeffrey; Madankumar, Rajeevi; Saffer, Craig; Das, Anita; Craig, Joseph A.; Chudova, Darya; Devers, Patricia; Jones, Keith; Oliver, Kelly; Rava, Richard P.; Sehnert, Amy J.

doi:10.1056/nejmoa1311037

Cited by 570 publications

(364 citation statements)

References 26 publications

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“…These studies also allow determination of the overall observed trisomy false‐positive frequency: 0% in Clinical Study A and 0.2% in Clinical Study B. These values are in line with the 0–0.3% combined false‐positive rate described for singletons1, 17. Another limitation was incomplete clinical outcomes, with aneuploidy outcome information available for only 35.7% (171/479) of cases in Clinical Study B; obtaining outcomes remains a challenge for clinical laboratories.…”

Section: Discussionsupporting

confidence: 74%

“…Briefly, a minimum of 7 mL of whole blood was collected in acid citrate dextrose1 or cfDNA blood‐collection (Streck) tubes17 and shipped either overnight in temperature‐controlled (cooled) conditions (acid citrate dextrose tubes) or in ambient shippers within 5 days of blood draw (Streck tubes) to the Illumina R&D Laboratory (Redwood City, CA, USA), where samples were inspected and plasma was prepared and stored at –80°C until sequencing. cfDNA was isolated from the plasma by centrifugation at 1600 g for 10 min.…”

Section: Methodsmentioning

confidence: 99%

“…Sequencing libraries were prepared using the Illumina TruSeq DNA Sample Prep Kit and sequencing was performed on Illumina HiSeq 2000 sequencers (Illumina, Inc.), as described previously for singleton pregnancies1, 17, 18. Sequence alignment and tag counting methods have been described previously1, 19.…”

Section: Methodsmentioning

confidence: 99%

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound in Obstet & Gyne

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ObjectivesTo describe our experience with non‐invasive prenatal testing (NIPT) in twin pregnancy.MethodsTwo sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT was used to screen for the presence of fetal aneuploidy on chromosomes 13, 18, 21, X and Y in all cases, and results were compared with outcomes when known.ResultsIn Clinical Study A, all 115 samples were classified correctly by NIPT: three cases of trisomy 21 (one fetus affected), one of monochorionic trisomy 18 (both fetuses affected) and 111 euploid. In Clinical Study B, a NIPT result was reported for 479 (98.4%) of the 487 samples. Aneuploidy was detected or suspected in nine (1.9%) cases: seven cases of trisomy 21 detected, one case of trisomy 21 suspected and one case with trisomy 21 detected and trisomy 18 suspected. Information on aneuploidy outcome was available for 171 (35.7%) cases in Clinical Study B. Of the nine cases with aneuploidy detected or suspected, six were confirmed to be a true positive in at least one twin based on karyotype or birth outcome and two were suspected to be concordant based on ultrasound findings; the one known discordant result was for the aneuploidy suspected case. No false negatives were reported.Conclusion NIPT performed well in the detection of trisomy 21 in twin pregnancy, with a combined false‐positive frequency for trisomies 13, 18 and 21 of 0% for Clinical Study A and 0.2% for Clinical Study B. © 2016 Illumina. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

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Section: Discussionsupporting

confidence: 74%

Section: Methodsmentioning

confidence: 99%

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound in Obstet & Gyne

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show abstract

“…As expected, these two very different NIPS methods have particular strengths for certain rare cases: for instance, although Ryan and Martin noted that the SNP method has shown limited proficiency with triploidy detection, the WGS method is demonstrably better suited to twin,7 egg‐donor,8 and consanguineous pregnancies 9. In our manuscript, however, our aim was not to evaluate the methods' respective virtues on rare cases, but rather to assess the analytical performance and clinical impact for a very common occurrence: pregnancies with low fetal fraction.…”

mentioning

confidence: 76%

Response to “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”

Muzzey¹,

Haverty²,

Evans³

et al. 2017

Prenatal Diagnosis

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“…The low rate of false-positive results from these blood tests -around 0.2%, down from the roughly 5% for older screening methods 4 -has greatly reduced the need for invasive follow-up tests such as chorionic villus sampling (CVS) or amniocentesis 5 .…”

Section: Fragments That Foolmentioning

confidence: 99%