Mammary tumors are the most frequent cancers in female dogs exhibiting a variety of histopathological differences. There is lack of knowledge about the genomes of these common dog tumors. Five tumors of three different histological subtypes were evaluated. Massive parallel sequencing (MPS) was performed in comparison to the respective somatic genome of each animal. Copy number and structural ab...

AIM The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use o...

Key content Fetal placental mosaicism, of which confined mosaicism is a subtype, occurs in 2–3% pregnancies. Confined may lead to false positive result on non-invasive prenatal testing (NIPT) for common aneuploidies. The risk chorionic villus sample (CVS) following NIPT 2, 4, 22 and 59% trisomy 21, 18, 13 45, X respectively. Following the absence significant fetal structural anomaly (FSA), care...

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency advanced maternal age (AMA) not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three AMA with singleton pregnancy who received and followed-...

So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[6...

mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1-3]. In 1997, Lo et al. [4] first demonstrated the presence Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequenci...