All in NIPT 5 plus additional tests.
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.
Small chromosomal deletions associated with recognizable syndromes:
Hypotonia, feeding difficulties in infancy, later obesity, intellectual disability, behavioral issues
Severe intellectual disability, seizures, ataxia, happy demeanor, speech impairment
Distinctive cat-like cry in infancy, intellectual disability, microcephaly, characteristic facial features
"Greek warrior helmet" facial appearance, severe growth delays, intellectual disability, seizures
Intellectual disability, seizures, heart defects, distinctive facial features, hypotonia
18 microdeletion syndromes with varying presentations affecting development, growth, organ systems, and intellectual function. Early detection enables anticipatory guidance and early intervention services.
