*Testing on serum for neural tube and chromosome defects, combining maternal serum AFP, hCG, estriol, and inhibin
Why is the Quadruple Screen important?
This blood test is recommended for screening in all pregnancies and is important because it enables:
- Detection of a high proportion of certain birth defects such as:
- Neural tube defects — detects 95-100% of anencephaly and 80-90% of spina bifida [AFP test only]
- Down syndrome — detects over 80% [combined AFP, hCG, inhibin, estriol]
- Identification of some pregnancies now known previously to be at increased risk of certain serious complications
- Early recognition of 30-40% of twin (or multiple) pregnancies
What is a Neural Tube Defect?
Defects in the development of the brain (called anencephaly) or the spinal cord (called spina bifida) are collectively described as neural tube defects (NTDs). Almost all babies with anencephaly die within hours or days of birth. Those born with spina bifida often survive, but because of damage to the spinal cord the vast majority develop handicaps varying from total paralysis from the waist down (associated with lack of bladder and bowel control) to some cases with only mild impairment of walking. Hydrocephalus (an accumulation of fluid in the brain) occurs in 80-90% of these children. Affected children with spina bifida require continuous medical and surgical care and often have a shorter life span. Mental retardation is a frequent complication.
What is Down Syndrome?
Humans have 46 chromosomes in each cell. During analysis they are arranged in 23 pairs, each pair being numbered. About 95% of children born with Down syndrome have an extra chromosome present in each cell which belongs to the number 21 group. Individuals with Down syndrome are always mentally retarded, have characteristic facial features and frequently have other birth defects. All individuals with Down syndrome require care throughout their lives. |