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Abstract
Goal. To describe the diagnostic algorithm of a clinical case of complete fetoplacental discordance detected prenatally. Material and methods of research. Non-invasive testing of fetal chromosomal abnormalities by the blood of pregnant woman (NIPT), karyotyping, chromosomal microarray analysis (aCGH + SNP), whole exome sequencing (WES NGS). Results. Complete fetoplacental discordance was detected as the form of chromosome 16 trisomy (placenta) and fragmentary uniparental disomy on chromosome 16 (fetus) and carrying a mutation in the gene of Cornelia de Lange syndrome with unknown clinical significance. Developed algorithm for planning further pregnancies is aimed to minimization of recurrent genetic risks. Conclusion. If placental mosaicism is suspected, the clinical tactic should include amniocentesis and placentocentesis simultaneously with a complete genetic examination of the obtained material.
References
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