The widespread use of genetic testing in high-risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend ...

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...

79 Abstract: Experimental cages started with a mixture of flies at three different ratios (1:9, 5:5, 9:1) from populations having heterosomal and autosomal sex–determining mechanisms were cytogenetically examined over six generations at two different temperatures (25 °C and 35 °C). In general, there was an increase in the frequency of XX males in all competitive population cages. Abnormal teste...