Objective To evaluate the clinical application of expanded noninvasive prenatal screening
(eNIPS) for genome-wide large copy number variation (CNV), ie chromosomal …

Background Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used
for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and …

Las translocaciones robertsonianas se producen por la fusión de los brazos largos de dos
cromosomas acrocéntricos y son frecuentes en los seres humanos. Sin embargo, su …

Introduction: Prenatal screening programs are important components for pregnant women
care and are often linked with grief and shock based on gestational age or the diagnosis …

Prenatalna dijagnostika se sprovodi sa svrhom rađanja zdravog i željenog potomstva. Ovom
dijagnostikom se utvrđuje ili isključuje postojanje određene genetske bolesti, genetski …

Down's syndrome caused by aneuploidy of chromosome 21 (trisomy 21: T21) has high
prevalence. Nowadays, advanced DNA technologies are used in noninvasive prenatal …

Robertsonian translocations consist of the fusion of the acrocentric chromosome's large
arms, they are frequent in humans, however, their presence may remain undiagnosed …

Prenatal diagnosis is performed with the purpose of giving birth to healthy and desired
offspring. This diagnosis determines or excludes the existence of a certain genetic disease …