Comparison between disclosure and non-disclosure approaches for trisomy 21 screening tests

BACKGROUND: First-trimester nuchal translucency (NT) and second-trimester triple test (TT) are common screening programmes for trisomy 21. The aim of this study was to compare disclosure and non-disclosure approaches of combining those tests. METHODS: Likelihood ratios of both NT and TT tests, among...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2002-05, Vol.17 (5), p.1358-1362
Main Authors: Herman, Arie, Dreazen, Eli, Tovbin, Joseph, Weinraub, Zvi, Bukovsky, Yan, Maymon, Ron
Format: Article
Language:English
Subjects:
Adult
alpha-Fetoproteins - analysis
Biological and medical sciences
Chorionic Gonadotropin - blood
Chromosome aberrations
Disclosure
Down Syndrome - diagnosis
Down Syndrome - diagnostic imaging
Estriol - blood
False Negative Reactions
False Positive Reactions
Female
Humans
Likelihood Functions
Medical genetics
Medical sciences
Neck - diagnostic imaging
non-disclosure
nuchal translucency
Predictive Value of Tests
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Prenatal Diagnosis
triple test
trisomy 21
Ultrasonography, Prenatal
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Summary:BACKGROUND: First-trimester nuchal translucency (NT) and second-trimester triple test (TT) are common screening programmes for trisomy 21. The aim of this study was to compare disclosure and non-disclosure approaches of combining those tests. METHODS: Likelihood ratios of both NT and TT tests, among 508 normal and 23 trisomy 21-affected pregnancies, were used for calculating population-adjusted risks. Disclosure approach incorporated all cases which, by either NT or TT, exhibited a risk │1:250 whereas non-disclosure approach generated a new integrated figure │1:250. RESULTS: Among women aged ≤34 years, the disclosure and non-disclosure approaches were associated with false positive rates of 4.3 and 1.1%, detection rates of 76.4 and 61.2%, positive predictive value (PPV) of 1:53 and 1:17, and false negative rate of 1:3129 and 1:1985 respectively. CONCLUSIONS: The disclosure approach resulted in considerably higher detection rates. The non-disclosure approach, however, was four times better regarding the number of invasive procedures required to detect one case of trisomy 21. However, the positive predictive value associated with the disclosure policy was still much more beneficial than that obtained in women aged ≥37 years, who are routinely referred to fetal karyotyping.
ISSN:0268-1161
1460-2350
1460-2350
DOI:10.1093/humrep/17.5.1358