Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues

Trisomy 20 mosaicism is a common abnormality found in prenatal diagnosis. Its clinical significance remains unclear since approximately 90–93% of cases result in normal phenotype. Only 5 cases of non-mosaic trisomy 20 in amniotic fluid culture surviving beyond the first trimester have been reported. Moreover, trisomic cells are generally not detectable in blood and have only been reported in three cases. We present a case of non-mosaic trisomy 20 found in chorionic villi sample and amniotic fluid culture in a fetus with minor abnormalities not detected by ultrasound examination. Pathological examination of the fetus only revealed right pulmonary isomerism and camptodactily, and no major malformations were disclosed. Trisomic lineage was also detected in fetal blood, kidney, skin and brain tissue cultures. Molecular analysis revealed that the extra chromosome 20 was originated in paternal meiosis. To our knowledge, we report the first prenatal case of non-mosaic trisomy 20 of paternal origin that has been confirmed in several fetal tissues, including blood, in a fetus with minor malformations not detected prenatally.