Prenatal diagnostics: a 10-year overview

Introduction. Abnormal number or structure of chromosomes is known to be one of the reasons of birth defects. About 0.5% of newborns are known to display chromosomal diseases [1], which are as a rule, have severe manifestation. Clearly then, prenatal diagnostics (PD) of chromosomal anomalies is of vital importance. Here, we describe the advantages of the approach for cultivating the amniotic fluid (AF) cells, which has been developed in the cytogenetics lab of the CNMT, and summarize the results of karyotyping data spanning the period of 10 years. Aim: to perform PD of chromosomal pathologies using the classical cytogenetics methods, and to do so with the shortest turnaround time possible using high-resolution differential chromosome staining technique. Methods. Cord blood samples, chorionic/placental villi or AF. Ex vivo cell culture, metaphase chromosome spreads, differential chromosome staining using standard protocols. The stained chromosomes were analyzed under a light microscope and images were captured using a videocamera and processed with appropriate software. ISCN (2009) was used for chromosome descriptions. Results. Laboratory associates have developed and patented the approach to shorten the AF cell culturing time to 8-13 days. Over the period of 10 years, 228 cytogenetic studies were performed, and chromosomal pathologies were uncovered in 11.8% cases. PD performance constituted 100%. Of all the chromosomal pathologies identified, chromosome rearrangements were observed in 40.7% samples. Conclusions. Optimizing AF cell culture conditions has allowed to rapidly and comprehensively perform karyotyping of fetal cells. Laboratory performance in PD was very high.

prenatal diagnostics, cytogenetic analysis, fetal karyotyping, chromosomal abnormality, amniotic fluid

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