Numerical chromosome aberrations in gametes typically lead to failed fertilization,
spontaneous abortion or a chromosomally abnormal fetus. By means of preimplantation …

Purpose About 50% of spontaneous abortions are caused by fetal chromosome
abnormalities. Identification of these abnormalities helps to estimate recurrence risks in …

Background Array-based comparative genomic hybridization (aCGH) is a new technique for
detecting submicroscopic deletions and duplications, and can overcome many of the …

Objective hr-NGS detects mosaicism in trophectoderm (TE) biopsies when 10%-90% of cells
are abnormal. Mosaic TE biopsies may come from embryos that result from euploid …

Purpose: To study the accuracy of non-invasive chromosomal screening (NICS) results, in
normal chromosomes and chromosomal rearrangement groups and to investigate whether …

Background Non-invasive prenatal testing (NIPT) as alternative screening method had been
proven to have very high sensitivity and specificity for detecting common aneuploidies such …

STUDY QUESTION Can simultaneous comprehensive chromosome screening (CCS) and
gene expression analysis be performed on the same biopsy of preimplantation human …

Prenatal diagnosis of chromosomal abnormalities is an important challenge for pregnancy
management has relied on conventional cytogenetic analysis of cultured amniotic fluid …

Background Our aim was to conduct a comprehensive genetic evaluation using the
combination of QF‐PCR (quantitative fluorescence polymerase chain reaction) and aCGH …

Objectives: The currently available methods for rapid prenatal diagnosis of common
chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) …