Effectiveness of Fluorescent in Situ Hybridization (FISH) over conventional karyotyping as a diagnostic tool for prenatal detection of aneuploidy of chromosome 21

The Journal of Anatomy

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The Journal of Anatomy, Impact Index: 3.67, Language: English, ISJN: 2385-4732, Category: International, Imprint: Photon 

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Effectiveness of Fluorescent in Situ Hybridization (FISH) over conventional karyotyping as a diagnostic tool for prenatal detection of aneuploidy of chromosome 21

Geetha K.N.(a)*, Saroj V Kotwaliwale(b)

Thomas Edison Award-2014

^a Department of Anatomy,MGM Medical College, Navi Mumbai, India

^b Director, GeneticDiagnostic Centre, Tardeo, Navi Mumbai, India

Keywords: FISH (fluorescent insitu hybridization), Karyotyping, Prenatal, Aneuploidy, Chromosome

Citation: Geetha K.N.,Kotwaliwale S.V., 2014. Effectiveness of Fluorescent in Situ Hybridization(FISH) over conventional karyotyping as a diagnostic tool for prenataldetection of aneuploidy of chromosome 21. The Journal of Anatomy. Photon 114,149-153.

Photon Ignitor: ISJN23854732D648704032014

Abstract

The study was designed to identify the reliability of Fluorescent in situ hybridization (FISH) in prenatal diagnosis of aneuploidy of chromosome 21 and the usefulness of the result in counselling and decision making. A total number of 30 samples were subjected to interphase FISH technique as well as conventional karyotyping. Study was carried out at the Genetic Diagnostic Centre, Tardeo, Mumbai, India during the period of 2008-2009. Samples were collected at various medical centres and analysis was done at the Genetic Diagnostic Centre. Maternal age ranged between 22 and 43. All these patients were referred for prenatal diagnosis with various indications, 73.35% with abnormal triple marker test, 40% with advanced maternal age and 13.3% with abnormal previous and abnormal ultrasonographic report. The results observed with FISH technique was compared with the results of Karyotyping, 86.7% showed normal results, 6.7% showed trisomy 18 and 6.7% trisomy 21. Rapid analysis showed 100% sensitivity and 100% specificity. FISH is useful in prenatal diagnosis of aneuploidies where it can be used on uncultured amniocytes and trophoblast cells for rapid and accurate detection. This features exhibit distinctive advantage over conventional karyotyping. At the same time careful genetic counselling is essential to explain the limitations of FISH especially the failure to detect structural anomalies of chromosomes.