Whole-Genome Sequencing Diagnoses Prenatal Chromosomal Rearrangements

Whole genome sequencing of the DNA code of prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days.

Next generation whole genome sequencing has been used to provide nucleotide level precision after current prenatal diagnostic methods of karyotyping and array comparative genomic hybridization (aCGH).

A team of scientists at Brigham and Women's Hospital (Boston, MA, USA) and Harvard Medical School (Boston, MA, USA) conducted the study which included karyotyping and aCGH studies of the three prenatal samples and provided the first clues of balanced de novo chromosomal rearrangements which prompted the investigation by genomic sequencing.

Clinical consequences of such chromosome rearrangements, which are defined as the relocation of chromosome segments without any loss or gain in genomic material, are rare, not inherited and challenging to predict without knowledge of the precise breakpoints. More...