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Prenatal reflex DNA screening for trisomies 21, 18, and 13.
Genet Med 2018; 20(8):825-830GM

Abstract

PURPOSE

The purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.

METHODS

Women who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them.

RESULTS

Of 22,812 women screened (including 106 with affected pregnancies), 2,480 (10.9%) were reflexed to DNA testing; 101/106 were detected (69/73 T21, 24/25 T18, and 8/8 T13), a 95% detection rate (95% confidence interval 89-98%) with four false positives (0.02%, 95% confidence interval 0.00-0.05%). The odds of being affected given a positive result were 25:1. Of the 105 screen-positive pregnancies, 91 (87%) had an invasive diagnostic test. Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test.

CONCLUSION

Reflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening.

Authors+Show Affiliations

Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK. n.j.wald@qmul.ac.uk.Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.Maternity Department, Barts Health NHS Trust (Royal London Hospital, Newham General Hospital and/Whipps Cross Hospitals), London, UK.Kingston Hospital Maternity service, London, UK.Department of Women's and Children's Health, The University of Liverpool, Liverpool, UK.Department of Women's and Children's Health, The University of Liverpool, Liverpool, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29120460

Citation

Wald, Nicholas J., et al. "Prenatal Reflex DNA Screening for Trisomies 21, 18, and 13." Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 20, no. 8, 2018, pp. 825-830.
Wald NJ, Huttly WJ, Bestwick JP, et al. Prenatal reflex DNA screening for trisomies 21, 18, and 13. Genet Med. 2018;20(8):825-830.
Wald, N. J., Huttly, W. J., Bestwick, J. P., Old, R., Morris, J. K., Cheng, R., ... Alfirevic, Z. (2018). Prenatal reflex DNA screening for trisomies 21, 18, and 13. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 20(8), pp. 825-830. doi:10.1038/gim.2017.188.
Wald NJ, et al. Prenatal Reflex DNA Screening for Trisomies 21, 18, and 13. Genet Med. 2018;20(8):825-830. PubMed PMID: 29120460.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal reflex DNA screening for trisomies 21, 18, and 13. AU - Wald,Nicholas J, AU - Huttly,Wayne J, AU - Bestwick,Jonathan P, AU - Old,Robert, AU - Morris,Joan K, AU - Cheng,Ray, AU - Aquilina,Joe, AU - Peregrine,Elisabeth, AU - Roberts,Devender, AU - Alfirevic,Zarko, Y1 - 2017/11/09/ PY - 2017/08/01/received PY - 2017/08/24/accepted PY - 2017/11/10/pubmed PY - 2018/12/29/medline PY - 2017/11/10/entrez KW - Down syndrome KW - NIPT KW - prenatal screening KW - reflex DNA screening KW - trisomy 13, 18, 21 SP - 825 EP - 830 JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet. Med. VL - 20 IS - 8 N2 - PURPOSE: The purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals. METHODS: Women who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them. RESULTS: Of 22,812 women screened (including 106 with affected pregnancies), 2,480 (10.9%) were reflexed to DNA testing; 101/106 were detected (69/73 T21, 24/25 T18, and 8/8 T13), a 95% detection rate (95% confidence interval 89-98%) with four false positives (0.02%, 95% confidence interval 0.00-0.05%). The odds of being affected given a positive result were 25:1. Of the 105 screen-positive pregnancies, 91 (87%) had an invasive diagnostic test. Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test. CONCLUSION: Reflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/29120460/Prenatal_reflex_DNA_screening_for_trisomies_21_18_and_13_ L2 - http://dx.doi.org/10.1038/gim.2017.188 DB - PRIME DP - Unbound Medicine ER -