Non-invasive prenatal testing (NIPT) is a simple blood test during pregnancy that helps detect rare genetic conditions early, enabling timely medical guidance and informed decision-making.

The whole-exome sequencing (WES) significantly improves diagnostic accuracy for monogenic foetal structural anomalies (FSAs), ...

A significant proportion of repeated pregnancy failures can be attributed to chromosomal abnormalities—either inherited from one of the parents or arising spontaneously in the embryo.

Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental ...

You might know that some prenatal tests screen for Down syndrome and other chromosomal disorders, but you may not have heard of microdeletions. This type of chromosomal disorder is more common than ...

In the continuously advancing field of genetics, particularly within human and medical genomics, the last ten years have seen an array of significant achievements and breakthroughs. These developments ...

A genetics team determines that a 59-year-old man referred for multiple colon polyps should also be tested for genes ...