Centrosomes are reduced to their cores in sperm. Emerging molecular explanations for centrosome construction have now helped to elucidate the mechanism of their destruction in sperm. Since centrosome inaccuracies cause aneuploidies responsible for cancers, birth defects and infertility, this new insight into centrosome behavior has broad implications.

Purpose: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Materials and Methods: Retrospective study involving 21052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assum...

Sex chromosome aneuploidies occur commonly in the general population, with an incidence of 1 in 400 newborns. However, no tests specifically targeting sex chromosomes have been carried out in prenatal diagnosis or newborn screening, resulting in late recognition of these diseases. In this study, a rapid diagnostic method for sex chromosome aneuploidies was established using Quantitative Fluores...

OBJECTIVE To estimate whether multiplex ligation-dependent probe amplification (MLPA), a molecular technique used for detecting the most common chromosomal aneuploidies, is comparable with karyotyping for the detection of aneuploidies of chromosomes X, Y, 13, 18, and 21 in routine clinical practice and to estimate the costs differences of both techniques. METHODS In this prospective, nationwi...

UNLABELLED Chromosomal polymorphisms involve heterochromatic regions and occur in the general population. However, previous studies have reported a higher incidence of these variants in infertile patients. The aim of this study was to examine the relationship between polymorphic variants and infertility and their association with aneuploidies in male gametes and embryos. We retrospectively cons...

Young males have testicular germ cells tumors (TGCT) as the most common malignancy and its incidence is increasing in several countries. Besides unilateral orchiectomy (UO), the treatment of TGCT may include surveillance, radiotherapy, or chemotherapy (CT), basing on tumor histology and stage of disease. It is well known that both radio and CT may have negative effects on testicular function, a...

Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are important in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through therapeutic abortion is a reasonable option. Prenatal screening is offered to all pregnant women and include fetal ultrasonography and maternal serum ...