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IONA test for first-trimester detection of trisomies 21, 18 and 13.
Ultrasound Obstet Gynecol 2016; 47(2):184-7UO

Abstract

OBJECTIVE

To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test.

METHODS

This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with trisomy 21, four with trisomy 18 and two with trisomy 13. Laboratory personnel were blinded to the fetal karyotype.

RESULTS

Probability scores for trisomies 21, 18 and 13 were given for 241/242 samples analyzed. No probability score was provided for one (0.5%) euploid pregnancy because of low fetal fraction. In all 35 cases of trisomy 21 the probability score for trisomy 21 was > 95% and the scores for trisomies 18 and 13 were ≤ 0.0001%. In all four cases of trisomy 18, the probability score for trisomy 18 was > 77% and the scores for trisomies 21 and 13 were ≤ 0.0001%. In the two cases of trisomy 13, the probability score for trisomy 13 was > 59% and the scores for trisomies 21 and 18 were ≤ 0.0001%. In the 200 euploid pregnancies with a test result, the probability score was < 0.08% for trisomy 21, < 0.001% for trisomy 18 and < 0.002% for trisomy 13. Therefore, the IONA test detected 100% of all three trisomies, with a false-positive rate of 0%.

CONCLUSION

The IONA test successfully differentiated all cases of trisomies 21, 18 and 13 from euploid pregnancies.

Authors+Show Affiliations

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26387684

Citation

Poon, L C., et al. "IONA Test for First-trimester Detection of Trisomies 21, 18 and 13." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 47, no. 2, 2016, pp. 184-7.
Poon LC, Dumidrascu-Diris D, Francisco C, et al. IONA test for first-trimester detection of trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2016;47(2):184-7.
Poon, L. C., Dumidrascu-Diris, D., Francisco, C., Fantasia, I., & Nicolaides, K. H. (2016). IONA test for first-trimester detection of trisomies 21, 18 and 13. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 47(2), pp. 184-7. doi:10.1002/uog.15749.
Poon LC, et al. IONA Test for First-trimester Detection of Trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2016;47(2):184-7. PubMed PMID: 26387684.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - IONA test for first-trimester detection of trisomies 21, 18 and 13. AU - Poon,L C, AU - Dumidrascu-Diris,D, AU - Francisco,C, AU - Fantasia,I, AU - Nicolaides,K H, Y1 - 2015/12/28/ PY - 2015/07/20/received PY - 2015/09/11/revised PY - 2015/09/13/accepted PY - 2015/9/22/entrez PY - 2015/9/22/pubmed PY - 2016/11/1/medline KW - aneuploidy KW - cell-free DNA KW - first trimester KW - first-trimester screening KW - prenatal diagnosis SP - 184 EP - 7 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 47 IS - 2 N2 - OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test. METHODS: This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with trisomy 21, four with trisomy 18 and two with trisomy 13. Laboratory personnel were blinded to the fetal karyotype. RESULTS: Probability scores for trisomies 21, 18 and 13 were given for 241/242 samples analyzed. No probability score was provided for one (0.5%) euploid pregnancy because of low fetal fraction. In all 35 cases of trisomy 21 the probability score for trisomy 21 was > 95% and the scores for trisomies 18 and 13 were ≤ 0.0001%. In all four cases of trisomy 18, the probability score for trisomy 18 was > 77% and the scores for trisomies 21 and 13 were ≤ 0.0001%. In the two cases of trisomy 13, the probability score for trisomy 13 was > 59% and the scores for trisomies 21 and 18 were ≤ 0.0001%. In the 200 euploid pregnancies with a test result, the probability score was < 0.08% for trisomy 21, < 0.001% for trisomy 18 and < 0.002% for trisomy 13. Therefore, the IONA test detected 100% of all three trisomies, with a false-positive rate of 0%. CONCLUSION: The IONA test successfully differentiated all cases of trisomies 21, 18 and 13 from euploid pregnancies. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/26387684/IONA_test_for_first_trimester_detection_of_trisomies_21_18_and_13_ L2 - https://doi.org/10.1002/uog.15749 DB - PRIME DP - Unbound Medicine ER -