Evaluation of Chromosomal Structural Anomalies in Fertility Disorders.

Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. The aim of the study was to identify the range and frequency of chromosomal aberrations in couples ( = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories.

Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants.