Overview
Verify Plus
Verify Plus (Illumina) is a non-invasive prenatal screening test that uses a simple blood sample from the mother. As well as the most common trisomies, it looks for aneuploidies of all chromosomes and for several microdeletion syndromes.
The cost is US$550.
What It Screens For
Conditions Screened
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
- Sex chromosome aneuploidy
- Aneuploidies for all chromosomes
- 22q11.2 microdeletion syndrome
- Prader-Willi syndrome
- Angelman syndrome
- Cri du chat syndrome
- 1p36 deletion syndrome
- Wolf-Hirschhorn syndrome
Important Note
NIPT is a screening test, not a diagnostic test. A positive result must be confirmed with a diagnostic test — CARIGEN’s QSTR Trisomy Analysis on a CVS or amniotic fluid sample. Discuss results with your doctor or genetic counsellor.
About the Conditions
Conditions Explained
A short guide to some of the conditions this test screens for. Your doctor or a genetic counsellor can tell you more.
Down syndrome (trisomy 21)
Each person with Down syndrome is an individual: intellectual and developmental delays can be mild, moderate or severe, and some people have significant health problems such as serious heart defects. Common features include a flattened face, small head, short neck, upward-slanting eyes, poor muscle tone, a single crease across the palm and short stature. Most children have mild to moderate cognitive impairment, with delayed language.
Edwards syndrome (trisomy 18)
A rare but serious condition in which a baby has three copies of chromosome 18 instead of two, usually by chance before conception. It affects how long a baby may survive: most babies die before or shortly after birth, and about 13 in 100 born alive live past their first birthday. The chance increases with maternal age, but anyone can have an affected baby. It occurs in full (most cases), mosaic (about 1 in 20, often milder) and partial (about 1 in 100) forms.
Patau syndrome (trisomy 13)
A severe chromosomal condition caused by an extra copy of all or part of chromosome 13, affecting about 1 in 10,000 to 16,000 births, more often with increasing maternal age. Babies often have heart defects (about 80%), brain or spinal cord abnormalities, a small head and eyes, cleft lip or palate and poor muscle tone. Most cases are not inherited, and the risk of recurrence in a later pregnancy is about 1%.
Sex chromosome aneuploidy
A missing or extra copy of the X or Y chromosome. Turner syndrome affects only females, when an X chromosome is missing or partly missing; it can cause short height, ovaries that do not develop and heart defects. Triple X syndrome is an extra X chromosome; many girls and women are healthy and may never know. Klinefelter syndrome is an extra X in a boy; it can mean smaller testicles, lower testosterone, reduced muscle mass and enlarged breast tissue, and is often not diagnosed until adulthood.
22q11.2 microdeletion (DiGeorge syndrome)
A small part of chromosome 22 is missing, so several body systems develop poorly. It is also known as DiGeorge or velocardiofacial syndrome. Common problems include heart defects, lowered immunity, cleft palate, low calcium levels, eye issues, hearing loss, kidney differences, and developmental, behavioral and emotional problems. The number and severity of symptoms vary, and specialists in several fields treat almost everyone with it.
Prader-Willi syndrome
A rare genetic disorder with physical, mental and behavioral problems. A key feature is a constant sense of hunger that usually begins at about 2 years of age (hyperphagia), with trouble controlling weight, and many complications are due to obesity. It is best managed by a team of specialists to reduce complications and improve quality of life.
Angelman syndrome
Symptoms include intellectual disability, no or very little speech, trouble walking and balancing, frequent smiling and laughing, being easily excited, and trouble feeding and sleeping. People may also have seizures (often starting at 2 to 3 years of age), stiff or jerky movements, a small head by age 2, tongue thrusting, light hair, skin and eyes, crossed eyes and scoliosis.
Cri du chat syndrome
Named for the high-pitched cry that may sound like a cat. Other features can include downward-slanting and wide-set eyes, low birth weight and slow growth, low-set or unusually shaped ears, hearing loss, heart defects, intellectual disability, a small head and jaw, and slow development of motor skills.
1p36 deletion syndrome
A congenital disorder caused by the loss of a segment of the short arm of chromosome 1, one of the most common deletion syndromes (about 1 in 5,000 to 10,000 births). It involves moderate to severe intellectual disability, delayed growth, low muscle tone, limited speech, seizures in about half of people, hearing and vision impairment, heart defects and distinct facial features. Symptoms vary with the exact location of the deletion.
Wolf-Hirschhorn syndrome
A rare genetic disorder in which part of chromosome 4 is missing, caused by abnormal cell division and usually not inherited. Features include wide-set eyes, a bump on the forehead, a broad nose, low-set ears, seizures (in nearly all children), low birth weight, a small head, underdeveloped muscles, scoliosis, and heart and kidney problems. Each case differs, depending on how much of the chromosome is missing.