Prenatal Whole Genome Sequencing

It provides comprehensive insight into both coding and non-coding regions of the genome, identifying potential single-nucleotide variants (SNVs), insertions/deletions, structural variants, and copy number variations (CNVs).
This test is typically performed on samples obtained via amniocentesis or chorionic villus sampling (CVS), and is especially useful in cases where:
Routine prenatal screening or imaging (e.g., ultrasound) shows abnormalities

There’s a history of genetic disorders
Previous tests (karyotype, microarray) were inconclusive
Key Benefits:
High diagnostic yield for unexplained fetal anomalies
Detection of rare genetic disorders
Informs clinical decision-making during pregnancy