Is time for using non-invasive pre-natal diagnosis for genetic disorders?

Kalantar, S. M.; Sitar, G.; Carabresy, J.
June 2014
Iranian Journal of Reproductive Medicine;Jun2014 Supplement, Vol. 12, p15
Academic Journal
Introduction: Prenatal screening for aneuploidy is offered to all pregnant women and is undertaken in two phases: screening and risk assessment followed by invasive prenatal diagnosis of high risk cases. The gold standard for diagnosis of chromosomal abnormalities is karyotyping of fetal cells obtained via invasive procedures; chorionic villus sampling and amniocentesis. However, a small but significant risk to the pregnancy is remained. Materials and Methods: During last three decades several attempts have been done to use fetal cell from maternal blood as a non-invasive prenatal Diagnosis (NIPND). A multi centric assay was done during more than ten years. Our results confirmed from results of PND with the NIPND using homemade centrifugation and followed by FISH techniques for trisomy 21 and 18. In 36 cycles the results from both fetal cells obtained confirmed each other. Results: Also, from literature the results of others institutions during last decade will be discussed. Conclusion: From all results, it would be recommended to perform NIPND to provide sufficient information about all 23 chromosomes from week 8, and followed by scanning schedule. For gene abnormality also can be used for screening the fetal condition.


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