Amniocentesis Research - Pregnancy, Prenatal Screening, Diagnosis, Risks, Down syndrome

Amniocentesis Research Today is a free monthly online journal that collates and summarizes the latest research about Amniocentesis, including details on pregnancy, prenatal screening, diagnosis, risks, down syndrome.


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Prospective audit of a one-centre combined nuchal translucency and triple test programme for the detection of trisomy 21.

Babbur V, Lees CC, Goodburn SF, Morris N, Breeze AC, Hackett GA

Division of Fetal-Maternal Medicine, Rosie Maternity Hospital, Cambridge, UK.

OBJECTIVES: To determine detection and false-positive rates for trisomy 21 using two-stage combined nuchal translucency (NT) and triple testing, whilst disclosing abnormal nuchal measurements at the scan. METHODS: A prospective audit in a UK women's hospital, of 3188 women with singleton pregnancies, requesting screening for trisomy 21. Median age was 37 years (range 19-46). Women were offered NT screening at 11 to 14 weeks. Those with NT > or =3 mm were offered chorionic villus sampling. Those declining CVS, and those with NT <3 mm, were offered early triple tests. Women with a term combined risk of trisomy 21 > or = 1:250, based on age, NT, and triple test results were offered amniocentesis. RESULTS: Using a 3-mm NT 'cut-off' identified 16/25 cases of trisomy 21 (64%; 95% CI 38.8, 78.9). Of 2725 women who had a combined nuchal plus triple test assessment, 79 (2.6%) had a > or = 1:250 term risk of trisomy 21. Forty (1.3%) had amniocentesis identifying 6/9 remaining cases (67%:95% CI:27.9, 92.5). Overall, the detection rate was 88% (95% CI:68.8, 97.5) for a 4.8% FPR. For the screened population, to achieve an 88% detection rate using the triple test alone, the predicted FPR would be 20%. Conversely, for an FPR of 4.8% using the triple test alone, the detection rate would be only 60%. CONCLUSION: In a high-risk group, the combination of NT with triple test offers detection of trisomy 21 at least equivalent to either test, while allowing disclosure of an abnormal NT at the scan and reducing the FPR. Importantly, the FPR is less than 5%, considerably lower than expected for triple test alone for this population.

Published 28 June 2005 in Prenat Diagn, 25(6): 465-9.
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Amniocentesis Research Today Archive:

Volume 1 (2005)
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  Issue 2 (February)
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  Issue 8 (August)
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Volume 2 (2006)
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Amniocentesis Books

Testing Women, Testing the Fetus : The Social Impact of Amniocentesis in America (The Anthropology of Everyday Life) (The Anthropology of Everydaylife)

Testing Women, Testing the Fetus : The Social Impact of Amniocentesis in America (The Anthropology of Everyday Life) (The Anthropology of Everydaylife)