Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

Huang, Xuan; Zheng, Jing; Chen, Min; Zhao, Yangyu; Zhang, Chunlei; Liu, Lifu; Xie, Wen; Shi, Shuqiong; Wei, Yuan; Lei, Dongzhu; Xu, Chenming; Wu, Qichang; Guo, Xiaoling; Shi, Xiaomei; Zhou, Yi; Liu, Qiufang; Gao, Ya; Jiang, Fuman; Zhang, Hongyun; Su, Fengxia; Ge, Huijuan; Li, Xuchao; Pan, Xiaoyu; Chen, Sheng-Pei; Chen, Fang; Fang, Qun; Jiang, Hui; Lau, Tze Kin; Wang, Wei

doi:10.1002/pd.4303

Cited by 73 publications

(81 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Like other published twin studies8, 9, 10, 26, the number of affected pregnancies was small and the majority were trisomy 21. This precluded determination of detection rates for trisomies 13 and 18.…”

Section: Discussionsupporting

confidence: 45%

“…Although there is considerable evidence for robust NIPT performance in singleton pregnancies1, 17, 22, 23, 24, 25, there is still relatively little published about its performance in twins8, 9, 10, 26. Here, we demonstrate the feasibility and clinical application of a cfDNA WGS‐based NIPT for fetal aneuploidy screening in twin pregnancies.…”

Section: Discussionmentioning

confidence: 82%

“…Importantly, no trisomic pregnancies were missed in Clinical Study A, no false negatives were reported for Clinical Study B and no false positives were reported for aneuploidy detected findings in either study. In contrast, three other studies in twin pregnancies reported at least one false negative8, 9, 26, despite two of the studies applying a 4% fetal‐fraction threshold (applied to the lower of the two fetal fraction values) for reporting8, 9. Here, fetal fraction estimates using chromosomes X and 21 were used for study analysis purposes only, and these estimates were not reported to the patient.…”

Section: Discussionmentioning

confidence: 92%

See 2 more Smart Citations

Aneuploidy screening by non-invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound Obstet Gynecol

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 45%

Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 92%

See 1 more Smart Citation

Aneuploidy screening by non-invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound Obstet Gynecol

View full text Add to dashboard Cite

show abstract

“…For the majority of studies, NIPT is performed variably from the first to the third trimester when the levels of cffDNA may be higher and performance of NIPT improved. There are fewer data available in multiple pregnancies, with reports largely being based on stored plasma samples (del Mar Gil et al 2014) or small prospective studies (Canick et al 2012;Lau et al 2012;Huang et al 2014). However, a meta-analysis of studies determined a detection rate of 94.4% for trisomy 21 (95% CI 74.2 -99.0) in twin pregnancies ) and most commercial companies now offer testing in multiple pregnancies.…”

Section: Noninvasive Prenatal Diagnosis and Screeningmentioning

confidence: 99%

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

Chitty¹,

Lo²

2015

Cold Spring Harb Perspect Med

View full text Add to dashboard Cite

“…A few studies on a small number of patients have shown that the performance cfDNA testing is high also in twin pregnancies [28,29,30]. …”

Section: Practical Aspects On the Use Of Cfdna Testing In Maternal Bloodmentioning

confidence: 99%

Clinical Perspective of Cell-Free DNA Testing for Fetal Aneuploidies

Gratacós

Nicolaides²

2014

Fetal Diagn Ther

View full text Add to dashboard Cite

Cell-free DNA testing in maternal blood provides the most effective method of screening for trisomy 21, with a reported detection rate of 99% and a false positive rate of less than 0.1%. After many years of research, this method is now commercially available and is carried out in an increasing number of patients, and there is an expanding number of conditions that can be screened for. However, the application of these methods in clinical practice requires a careful analysis. Current first-trimester screening strategies are based on a complex combination of tests, aiming at detecting fetal defects and predicting the risk of main pregnancy complications. It is therefore necessary to define the optimal way of combining cell-free DNA testing with current first-trimester screening methods. In this concise review we describe the basis of cell-free DNA testing and discuss the potential approaches for its implementation in combination with current tests in the first trimester.

show abstract

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

Cited by 73 publications

References 23 publications

Aneuploidy screening by non-invasive prenatal testing in twin pregnancy

Aneuploidy screening by non-invasive prenatal testing in twin pregnancy

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

Clinical Perspective of Cell-Free DNA Testing for Fetal Aneuploidies

Contact Info

Product

Resources

About