La revisión sistemática es la evaluación ordenada y explícita de la literatura a partir de una
pregunta clara de investigación, junto a un análisis crítico de acuerdo a diferentes …

Despite years of research, miscarriage, particularly when recurrent, continues to pose a
medical challenge. An embryo chromosomal error is responsible for 50–60% of recurrent …

Background Next-generation sequencing is emerging as a viable alternative to chromosome
microarray analysis for the diagnosis of chromosome disease syndromes. One next …

The past few years have seen extraordinary advances in prenatal genetic practice led by 2
major technological advances; next-generation sequencing of cell-free DNA in the maternal …

Background Current pathways for testing fetuses at increased risk of a chromosomal
anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy …

Embryonic chromosomal abnormality is one of the significant causative factors of early
pregnancy loss. Our goal was to evaluate the clinical utility of next-generation sequencing …

Background Compared with standard karyotype, chromosomal microarray analysis
improves the detection of genetic anomalies and is thus recommended in many prenatal …

BACKGROUND Corpus callosum malformation (CCM) is the most frequent brain
malformation observed at birth. Because CCM is a highly heterogeneous condition, the …

Objective The primary object of this study is to analyze chromosomal abnormalities in
miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential …

Objective Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies
using prenatal array comparative genomic hybridisation (aCGH). Method Prospective cohort …