Justifiability of amniocentesis on the basis of positive findings of triple test, ultrasound scan and advanced maternal age

Authors

  • Dragoslav Bukvic Niksic General Hospital - Department of gynecology, Niksic
  • Margherita Fanelli Dipartimento di Medicina Interna e Medicina Pubblica (DIMIMP) - Sezione Diagnosi per Immagini, University of Bari
  • Guanti Ginevra Dipartimento di Medicina Interna e Medicina Pubblica (DIMIMP) - Sezione di Genetica Medica, University of Bari
  • Nenad Bukvic Dipartimento di Medicina Interna e Medicina Pubblica (DIMIMP) - Sezione di Genetica Medica, University of Bari, Ospedali Riuniti di Foggia, Azienda Ospedaliero-Universitaria, Dipartimento di Patologia Clinica, II laboratorio Analisi Sezione di Biologia Molecolare e Citogenetica, Foggia

Keywords:

Chromosomopathy, Triple test, Ultrasound, Maternal age, Prenatal screening

Abstract

Objective. To assess the effectiveness of antenatal screening for chromosomalabnormalities based on maternal age (≥35 years), positiveultrasound findings or a positive triple test. Materials and methods.Retrospective six-year study. The pregnant women routinely underwentestablished clinical and laboratory practice at the Departmentof Medical Genetics between 1997 and 2003. The women’s case noteswere examined to identify indications for karyotyping, gestation periodand the outcome of karyotyping and pregnancy. Results. Invasiveantenatal tests were performed on 1440 cases, 1168 (81.11%) age 35(a),72 (5.00%) positive triple test (b), 24 (1.67%) positive ultrasound scanning(c) and 176 (12.2%) other (psychological, personal reasons, etc)(d). The overall positive predictive value was 1.67% (1.6%(a), 1.4% (b),12.5% (c), 0.0% (d). The constructed model of logistic regression gavean odds-ratio of 8.647 for the “positive ultrasound result vs. maternalage ≥35” indication, while the odds-ratio for the triple test vs. maternalage ≥35 was 0.854. Conclusions. Amniocentesis and cytogeneticanalysis of foetal karyotype should be presented as a diagnosticpossibility to all women over 35 years. The application of biochemicalmarkers was far from the expected results. If we compare results forindication positive ultrasound scanning vs. maternal age, an oddsratioof ~9 was obtained. These results demonstrate that the likelihoodof obtaining positive results (i.e. the presence of chromosome alterations)from an amniocentesis having this indication is almost 9 timeshigher than from having an amniocentesis performed solely for advancedmaternal age.

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References

Mueller R, Young I. Chromosome disorders. In: Emery’s elements of medical genetics. 10th ed. London: Churchill Livingstone;1998. p. 245-64.

Lončar J, Barnabei VM, Larsen JW. Advent of maternal serum markers for Down syndrome screening. Obstet Gynecol Surv. 1995;50:316-20.

Howe TD, Gornall R, Wellesley D, Boyle T, Barber J. Six year survey of screening for Down’s syndrome by maternal age and mid-trimester ulltrasound scans. BMJ. 2000;320:606-10.

Saller DN, Canik JA. Maternal serum screening for Down szndrome: clinical aspects. Clin Obstet Gynecol.1996;39:783-92.

Royal College of Obstetricians and Gynaecologists. Report of the working party on biochenical markers and the detection of Down’s syndrome. London: RCOG Press; 1993.

Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191:45-67.

Dupont JM, Carles E. Three-year national survey of prenatal cytogenetic activity in France 1998-2000. European Cytogeneticists Association Newsletter No. 13, January 2004. p. 3-8.

Spenser K, Spenser CE, Power M, Dawson C, Nicolaidis KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in one stop clinic:a review of three years prospective experience. Br J

Obstet Gynecol. 2003;110:281-6.

Chaabouni H, Chaabouni M, Maazoul F, Rad MR, Jemaa BL, Smaoui N,Terras K, Belghith N, Ridene H, Oueslati B, Zouari F. Prenatal diagnosis of chromosomal disorders in Tunisian population. Ann Genet. 2001;44:99-104.

Fergusson-Smith MA, Yater JR. Maternal age specific rates for chromosomes aberrations and factors influencing them, report of a collaborative European study on 52965 amniocentesis. Prenat Diagn. 1984;4:5-44.

Wald NJ, Cukle HS, Densem JW, et al. Maternal serum screening for Down syndrome in early pregnancy. BMJ. 1988;297:883-7.

Webley C, Halliday J. Report on prenatal diagnostic testing in Victoria 2001. http://www.health.vic.gov.au/perinatal/downloads/report_diagnostictest2001.pdf

Ayme S, Morichon N, Goujard J, Nisand. Prenatal diagnosis in France. Eur J Hum Genet. 1997;5:26-31.

Spencer K. Screening for trisomy 21 in tvin pregnancies in the first treimester using free β – HCG and PAPP-A, combined with fetal nuchal translucency thickness. Prenat Diagnosis. 2000;20:91-5.

Benn PA, Horne D, Briganti S, Greenstein RM. Fetus-Placenta-Newborn: Prenatal diagnosis of diverse chromosomal abnormalities in population of patients identified by triple-marker testing as screen positive for Down’s syndrome. Am J Obstet Gynecol. 1995;173(2):496-501.

Nyberg DA, Luthy DA, Cheng EY, Sheley RC, Resta RG, Williams MA. Role of prenatal ultrasonography in women with positive screen for Down’s syndrome on the basis of maternal serum markers. Am J Obstet Gynecol. 1995;173(4):1030-35.

Baenna N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin MR, Guitart M and Euroscan Working Group. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am

J Med Genet. 2003;118A:319-27.

Nicolaides KH, Azar G, Snijders RJM, Gosden CM. Fetal nuchal edema: associated malformations and chromosomal defects. Fetal Diag Ther. 1992;6:46-57.

Benacerraf BR, Frigoletto FD, Laboda L A. Sonographic diagnosis of Down syndrome in the second trimester. Am J Obstet Gynecol. 1985;160:319-21.

DeVore RG, Romero R. Genetic sonography. An option for women of advanced maternal age with negative triple-marker maternal serum screening results. J Ultrasound Med. 2003;22:1191-99.

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Published

2011-04-10

How to Cite

Bukvic, D., Fanelli, M., Ginevra, G., & Bukvic, N. (2011). Justifiability of amniocentesis on the basis of positive findings of triple test, ultrasound scan and advanced maternal age. Acta Medica Academica, 40(1), 10–16. Retrieved from https://www.ama.ba/index.php/ama/article/view/97

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Section

Clinical Science