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Prenatal Testing – Amniocentesis

Prenatal diagnosis focuses on birth defects of genetic and non-genetic origin. For defects of genetic origin fetal tissue sampling (amniotic fluid) is necessary. These tissues are used for diagnosis of chromosomal, metabolic and molecular genetic disorders, However from all the test for prenatal diagnosis, chromosomal analysis is the most frequent.

  • Chromosome analysis: Karyotyping of amniotic fluid
  • Aneuploidy FISH panel (chromosomes 13, 18, 21, X and Y): Fluorescent In-Situ Hybridization (FISH) :Fluorescent In-Situ Hybridization (FISH) is the latest technique in the field of cytogenetics. The advantages of using FISH technique is great in prenatal testing as it provides rapid information of chromosome abnormalities in urgent situations and also helps in aneuploidy analysis on prenatal specimens in uncultured cells or when there is a culture failure.FISH analysis is performed on various sample types and tissues.