Mirrors traditional karyotype analysis but non-invasively
The most common chromosomal condition (1 in 700 births), causing intellectual disability, characteristic facial features, heart defects, and increased risk of various health conditions.
Most individuals have mild to moderate intellectual disability and can lead fulfilling lives with appropriate support.
A serious condition (1 in 5,000 births) affecting multiple organ systems including heart, kidneys, and brain. Characterized by severe developmental delays, growth restriction, and clenched fists.
Many affected pregnancies result in miscarriage; those born alive often have limited survival, though some live into childhood with intensive medical care.
A rare but severe condition (1 in 16,000 births) causing profound intellectual disability, brain and spinal cord abnormalities, heart defects, cleft lip/palate, and extra fingers or toes.
Most affected infants have serious life-threatening medical problems, with limited survival beyond the first year.
Conditions involving abnormal numbers of X and Y chromosomes, typically milder than autosomal aneuploidies:
Affects males (1 in 500-1,000); tall stature, reduced testosterone, infertility, possible learning difficulties. Intelligence typically normal; testosterone therapy supports development.
Affects females (1 in 1,000); usually mild presentation with tall stature, possible learning or behavioral challenges. Most live normal lives.
Affects males (1 in 1,000); tall stature, possible learning difficulties or behavioral challenges. Most function normally in society.
Karyotype-level screening across all 23 chromosome pairs, detecting deletions and duplications >7Mb anywhere in the genome. This comprehensive approach identifies:
Any chromosome can be evaluated for complete or partial trisomy/monosomy.
Deletions or duplications affecting multiple genes, potentially causing: Developmental delays and intellectual disability; Congenital anomalies (heart, kidney, brain, skeletal); Growth abnormalities; Dysmorphic features; Multiple organ system involvement.
Some CNVs represent newly recognized or rare genetic syndromes with variable phenotypes.
This approach mirrors traditional karyotype analysis but non-invasively, providing comprehensive chromosomal assessment for high-risk pregnancies or when fetal anomalies are detected on ultrasound.
