Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities

Zimmermann, Roland; Hucha, A; Savoldelli, Guido; Binkert, Franz; Achermann, Josef; Grudzinskas, J. G.

doi:10.1111/j.1471-0528.1996.tb09552.x

Cited by 60 publications

(43 citation statements)

References 25 publications

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“…The presence of selection bias could be ascertained only in three small studies unaffected by verification bias. 25,28,32 Both the sensitivity and the specificity were better in studies with verification bias, which speaks against selection bias.…”

Section: Discussionmentioning

confidence: 99%

Effect of study design on the association between nuchal translucency measurement and Down syndrome

Mol¹

1999

Obstetrics & Gynecology

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Effect of study design on the association between nuchal translucency measurement and Down syndrome Mol, B.W.J.; Lijmer, J.G.; van der Meulen, J.H.P.; Bilardo, C.M.; Bossuyt, P.M.M. General rightsIt is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. Methods: We used MEDLINE and EMBASE to identify all papers relating the results of nuchal translucency measurement to fetal karyotype. The detected studies were scored for verification bias. Fifteen studies without and ten with verification bias were included.Results: Sensitivity and specificity were calculated for each study. For studies with verification bias, adjusted estimates of the sensitivity were calculated assuming a fetal loss rate for Down syndrome pregnancies of 48%. The sample size weighted sensitivity was 55% in studies without and 77% in those with verification bias, for specificities of 96% and 97%, respectively. After adjustment for verification bias, the sample size weighted sensitivity changed from 77% to 63%.Conclusion: Studies with verification bias reported higher sensitivities, but also slightly higher specificities of nuchal translucency measurement than studies without verification bias. The difference in sensitivity is greater than could be explained by verification bias. We postulate that the experience of the sonographist might be an explanation for the differences. (Obstet Gynecol 1999;94:864 -9.

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Section: Discussionmentioning

confidence: 99%

Effect of study design on the association between nuchal translucency measurement and Down syndrome

Mol¹

1999

Obstetrics & Gynecology

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“…The differences in cut-off figures may reflect the difference in the proportion of older women: in Krantz's study 34.6% of the women were 535 years old and the frequency of Down's was 1 : 173, in Spencer's study 12.7% of the screenees were aged 535 years, and the frequency of Down's was 1 : 537. In the study by Zimmerman et al 11 the Table 2 Results of screening for trisomy 21 by assay of maternal serum (PAPP-A and b-hCG), by foetal nuchal translucency and by combining maternal serum biochemistry and foetal nuchal translucency at 10 ± 13 weeks of gestation using 1:250 as a cut-off limit. There were eight cases of Down's syndrome in the maternal serum group and five cases in the other groups frequency of Down's was 1:287, but 63% of the screenees were in the group of older women (535 years).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland

Niemimaa

Suonpää²,

Perheentupa

et al. 2001

Eur J Hum Genet

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The current trend in prenatal diagnosis is that trisomy screening is being moved to the first trimester and ultrasonographic nuchal translucency measurement is included in risk calculation. It is likely that biochemical screening in the second trimester will gradually be given up. In Eastern and Northern Finland, during the year 1999 we offered first-trimester ultrasonographic and serum screening for trisomy 21, with measurements of maternal serum PAPP-A and b-hCG. A total of 2515 pregnant women participated in the screening, yielding the detection of eight foetuses with Down's syndrome. Six affected foetuses (75%) were detected by means of first-trimester serum screening. Since we were in the phase of collecting data for the Finnish medians for PAPP-A and b-hCG, the women were not given the estimates of risk for trisomy 21. Only 1602 of the 2515 enrolled women had the combination of first-trimester ultrasonographic and serum screening performed, and in that group there were five foetuses with Down's syndrome. The combination ultrasonographic and serum approach yielded a Down's syndrome detection rate of 80% (four out of five) with a 5% false positive rate, whereas in nuchal translucency based-screening the detection rate was 60%, with a 5% false positive rate. European Journal of Human Genetics (2001) 9, 404 ± 408.

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“…Initially a categorical cutoff measurement (usually 2.5 or 3 mm) was used (Table 1). [49][50][51][52][53][54][55][56] However, as outlined above, NT increases with gestational age, and the degree of risk has been found to vary with NT measurements. 5,57 Therefore, it was natural to express NT measurements relative to gestational age or crown-rump length as a delta value or multiple of the median (MoM).…”

Section: Technique and Measurementmentioning

confidence: 99%

Sonographic screening for fetal aneuploidy: first trimester.

Souter¹,

Nyberg²

2001

J of Ultrasound Medicine

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Objectives. Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. Methods. We reviewed available literature regarding first-trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Results. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester. The 2 maternal serum markers that appear to be most useful in the late first trimester are the free β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false-positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false-positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first-and second-trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first-trimester screening remain. We address some of these questions: Is first-trimester screening more effective than second-trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first-trimester screening cost-effective? How should first-trimester screening be interpreted with second-trimester tests? Conclusions. Despite encouraging data and general enthusiasm for first-trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.

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Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities

Cited by 60 publications

References 25 publications

Effect of study design on the association between nuchal translucency measurement and Down syndrome

Effect of study design on the association between nuchal translucency measurement and Down syndrome

Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland

Sonographic screening for fetal aneuploidy: first trimester.

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