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Test Description
The Triple Marker Test, also known as the triple test or multiple marker screening, is a prenatal screening test conducted during the second trimester of pregnancy, typically between the 15th and 20th weeks.
The levels of these markers help assess the risk of certain genetic disorders and congenital abnormalities in the developing fetus.
Indications of the Test
The Triple Marker Test is recommended for pregnant women, particularly those who:
- Are 35 years or older
- Have a family history of genetic disorders
- Have experienced complications in previous pregnancies
- Are diabetic or have taken medications that may affect fetal development
This test primarily screens for conditions such as:
- Down syndrome (Trisomy 21)
Down syndrome, also known as Trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21. This anomaly results in a total of 47 chromosomes instead of the usual 46, leading to various developmental and physical challenges. Approximately 95% of individuals with Down syndrome have Trisomy 21, which can affect cognitive abilities and physical health.
Characteristics and Symptoms
Individuals with Down syndrome often exhibit distinct physical traits, including:
- A flattened face and nose
- Almond-shaped eyes that slant upward
- A protruding tongue
- Short neck and limbs
- Low muscle tone
In addition to these physical features, Down syndrome can lead to various health complications such as:
- Congenital heart defects (affecting about 50% of affected individuals)
- Gastrointestinal issues
- Hearing and vision problems
- Increased risk of infections
Developmental Impact
Children with Down syndrome may experience delays in reaching developmental milestones, including speech and motor skills. Intellectual disabilities can range from mild to moderate, with most individuals having an IQ between 50 and 75. However, with appropriate support and education, many people with Down syndrome lead fulfilling lives.
Trisomy 18 (Edwards Syndrome)
Trisomy 18, or Edwards syndrome, is another chromosomal condition characterized by the presence of an extra chromosome 18. This condition is less common than Down syndrome and is associated with severe developmental delays and significant health issues. Key features include:
- Low birth weight
- Heart defects
- Kidney problems
- Clenched fists with overlapping fingers
Most infants with Trisomy 18 do not survive past their first year due to the severity of associated health complications.
- Neural tube defects like spina bifida and anencephaly
Neural Tube Defects (NTDs)
Neural tube defects are serious birth defects that occur when the spine or brain does not close completely during early fetal development. Common types include:
- Spina bifida: Incomplete closure of the spinal column, which can lead to physical disabilities.
- Anencephaly: A severe condition where a major portion of the brain and skull does not develop.
These defects can result in lifelong disabilities or be fatal shortly after birth. The risk factors for NTDs include maternal folic acid deficiency, certain medications, and pre-existing medical conditions.
Patient Preparation/Instructions
No specific preparation is required for the Triple Marker Test. Pregnant women can eat and drink normally before the test. However, maintaining a healthy diet during pregnancy is advisable. It’s recommended to consult with a healthcare provider for personalized guidance.
Typical Reference Values
The normal reference ranges for the markers are approximately:
- AFP: 1.38 to 187.00 IU/ml
- hCG: 1.06 to 315 ng/ml
- uE3: 0.25 to 28.5 nmol/l
These values can vary based on individual factors such as age and ethnicity.
Turnaround Time
Results from the Triple Marker Test are typically available within 48 to 96 hours after the blood sample is collected.
Order This Test
To order the Triple Marker Test, please click the ‘Order Test’ button and add it to your cart. This will initiate the process for your prenatal screening.
