Prospective first‐trimester screening for trisomies by cell‐free DNA testing of maternal blood in twin pregnancy

Sarno, Lucio; Revello, Rocío; Hanson, Ele; Akolekar, Ranjit; Nicolaides, Kypros H.

doi:10.1002/uog.15913

Cited by 87 publications

(114 citation statements)

References 26 publications

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“…(2018) and excluded it as Ariosa Diagnostics Inc. (San Jose, California) confirmed that NGS was used for DNA quantitation in an unknown proportion of study samples. Fourth, we excluded seven studies (published in eight articles) from this review that, according to information from Ariosa Diagnostics Inc. (San Jose, California), used DNA microarray as DNA quantitation method in an unknown proportion of study samples. These “mixed technology” studies might provide additional useful information on the test accuracy (see Appendix 5).…”

Section: Discussionmentioning

confidence: 99%

Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

et al. 2019

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Objective To evaluate the test accuracy of non‐invasive prenatal testing (NIPT) for fetal trisomy 21, 18, and 13 using cell‐free (cf) DNA analysis in maternal plasma with microarray quantitation. Method Systematic review and meta‐analysis. Searches in MEDLINE, Pre‐MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018. Results Five studies analyzing 3074 samples, including 187 trisomy 21, 43 trisomy 18, and 19 trisomy 13 cases, were identified. Risk of bias was high in all studies, introduced particularly by exclusions from analysis and by the role of the sponsor. Sensitivity of microarray‐based cfDNA testing was 99.5% (95%CI 96.3%‐99.9%) for trisomy 21, 97.7% (95%CI 87.9%‐99.6%) for trisomy 18, and 100% (95%CI 83.2%‐100%) for trisomy 13. Specificity was 100% (95% CI 99.87%‐100%) for trisomy 21, 99.97% (95%CI 99.81%‐99.99%) for trisomy 18, and 99.97% (95%CI 99.81%‐99.99%) for trisomy 13. Pooled test failure rate was 1.1%. A direct comparison of microarray‐ and sequencing‐based cfDNA found equivalent test accuracy. Conclusion Included studies suggest that NIPT using microarray‐based cfDNA testing has high sensitivity and specificity for detecting fetal trisomy 21, 18, and 13. However, the evidence base is small and at high risk of bias.

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Section: Discussionmentioning

confidence: 99%

Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

et al. 2019

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“…Therefore, a policy was proposed that the fetal fraction used to give a successful cell‐free DNA result in dichorionic twin pregnancies should be the lower fetal fraction of the two fetuses and not the total fetal fraction . This would, however, result in an increase in failure rate by three‐fold compared with singleton pregnancies . The performance of screening for trisomic twin pregnancies cannot yet be provided as the numbers are still too small.…”

Section: Screening Using Cell‐free Dna In Maternal Bloodmentioning

confidence: 99%

Evolution in screening for Down syndrome

Mahri

Nicolaides

2019

The Obstetric & Gynaecologis

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Key content This article describes how screening for fetal trisomy 21 has evolved from advanced maternal age, with a detection rate of 30% at a false positive rate (FPR) of 5%, to second trimester serum biochemistry, with a detection rate of 60–75% at an FPR of 5%, and then to the first trimester combination of fetal nuchal translucency and serum biochemistry, with a detection rate of 90% at an FPR of 5%. The introduction of cell‐free DNA analysis of maternal blood is outlined. This method has improved detection rate to 99% with a reduction in FPR to 0.1%. As this test is currently expensive, it may be difficult to offer it to all patients as a first‐line method of screening. A feasible approach to the introduction of the cell‐free DNA test is discussed, which is to offer it contingent on the results of first‐line screening with the combined test. Learning objectives To understand the different methods available for screening for fetal trisomy 21. To learn about the performance of different methods of screening. To be able to describe the new method of screening by cell‐free DNA testing. To understand the issues related to clinical implementation of cell‐free DNA testing. Ethical issues Should the cell‐free DNA test be offered solely based on health economic considerations or on individual patient interests? Should screening be carried out for conditions other than trisomy 21?

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“…Although its detection rates are lower than those observed for singleton pregnancies, first‐trimester combined screening by nuchal translucency and serum analytes (free β‐human chorionic gonadotropin, pregnancy associated‐plasma protein‐A) has a detection rate for Down syndrome of 70%–72% with a 5% false‐positive rate for twins . Cell‐free DNA screening is also available for twin gestations . The American Congress of Obstetricians and Gynecologists does not recommend the use of cell‐free DNA screening in multiple gestations; however, the American College of Medical Genetics recommends discussing the validity of cell‐free DNA screening with the laboratory before offering the test to women with multiple gestations …”

Section: Chorionicity and Amnionicitymentioning

confidence: 99%

“…Discordant nuchal translucency findings (≥20%) are more concerning in cases of monochorionic twinning and have a 30% risk of early fetal death or TTTS . Cell‐free DNA can also be considered for aneuploidy screening in monochorionic gestations …”

Section: Chorionicity and Amnionicitymentioning

confidence: 99%

Role of ultrasonography in the management of twin gestation

Smith

Treadwell

Berman

2018

Intl J Gynecology & Obste

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Twins represent 1%-2% of all pregnancies, yet continue to account for a disproportionate share of neonatal adverse events including neonatal intensive care admission, morbidity, and mortality. Ultrasonography is central to the proper diagnosis of the type of twinning. Ideally, ultrasonography is performed before 14 weeks of gestation to determine chorionicity and amnionicity. Correct identification of the chorionicity in a twin pregnancy facilitates proper counseling and management of the gestation, including ultrasonography follow-up. Herein, the different types of twinning are reviewed, together with the implications for ultrasonography monitoring of each specific type of twin gestation.

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Prospective first‐trimester screening for trisomies by cell‐free DNA testing of maternal blood in twin pregnancy

Abstract: ABSTRACT

Cited by 87 publications

References 26 publications

Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

Evolution in screening for Down syndrome

Role of ultrasonography in the management of twin gestation

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