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Ultrasound Obstet Gynecol. 2016 Feb;47(2):184-7. doi: 10.1002/uog.15749. Epub 2015 Dec 28.

IONA test for first-trimester detection of trisomies 21, 18 and 13.

Author information

1
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

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.

KEYWORDS:

aneuploidy; cell-free DNA; first trimester; first-trimester screening; prenatal diagnosis

PMID:
26387684
PMCID:
PMC5064725
DOI:
10.1002/uog.15749
[Indexed for MEDLINE]
Free PMC Article

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