Abstract Study question Which chromosomal mosaic features do women under IVF treatment show? Summary answer Single aneuploidies were the most represented among embryos and their frequency as well level of mosaicism increased in older women. What is known already Chromosomal are characterised by presence chromosomally different cell lines within same embryo. We previously demonstrated that repro...

OBJECTIVE To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results a...

OBJECTIVE To determine if combinations of maternal characteristics and measurements of parameters used in screening for aneuploidies at 11-13 weeks provide significant prediction of macrosomia. METHOD Maternal characteristics, fetal nuchal translucency (NT), free β-human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) were recorded at 11(+0)-13(+6) weeks in ...

We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for te...

OBJECTIVE To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. METHODS This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex chromosome aneuploidies (45,X, n = 49; 47,XXX...

Fluorescence in situ hybridization analysis, performed with chromosome specific DNA probes labeled with fluorochromes, is a simple and reliable tool for the indirect study of aneuploidies in interphase cells such as spermatozoa. It is known that infertile male patients with poor sperm quality, due to different causes, produce cytogenetically abnormal spermatozoa despite a normal constitutional ...