Down syndrome is a genetic condition caused by an extra copy of chromosome 21, resulting in developmental delays and distinctive physical features. It is caused by a chromosomal abnormality called trisomy 21 that occurs during cell division. The Alpha-Fetoprotein (AFP) blood test is the most important prenatal screening test for assessing Down syndrome risk during pregnancy.
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Down syndrome is caused by the presence of an extra copy of chromosome 21, a condition called trisomy 21. This chromosomal abnormality occurs during the formation of reproductive cells when the genetic material fails to separate properly during cell division. The extra chromosome affects how the baby's body and brain develop, leading to the physical and intellectual characteristics associated with Down syndrome. While the exact reason why this chromosomal error occurs is not fully understood, maternal age is a known risk factor, with the likelihood increasing as a woman gets older, particularly after age 35.
The Alpha-Fetoprotein (AFP) blood test is the most important prenatal screening test for assessing Down syndrome risk because it measures a specific protein produced by the developing fetus that passes into the mother's bloodstream. Lower than normal AFP levels can indicate an increased risk of Down syndrome and other chromosomal abnormalities. This test is typically performed between 15 and 20 weeks of pregnancy and is often combined with other blood markers like hCG and estriol as part of a comprehensive prenatal screening panel called the triple or quad screen. While these screening tests assess risk rather than provide a definitive diagnosis, they help identify pregnancies that may benefit from additional diagnostic testing such as amniocentesis or chorionic villus sampling.
You should get tested if you are pregnant and want to assess your baby's risk for chromosomal abnormalities, especially if you are over 35 years old or have a family history of genetic conditions. The AFP screening test is typically performed between 15 and 20 weeks of pregnancy, while first-trimester screening options are available between 10 and 13 weeks. Early screening allows time for additional diagnostic testing if needed and helps you and your healthcare provider make informed decisions about prenatal care. Women of any age can choose to have prenatal screening, as Down syndrome can occur in any pregnancy regardless of maternal age or family history.
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What this means
Your AFP level is slightly elevated above the normal range for healthy adults. While this could indicate early tumor activity in the liver or testicles, it can also be elevated in non-cancerous conditions like hepatitis or cirrhosis. Your doctor will likely recommend additional imaging or tests to determine the cause.
Recommended actions
Schedule a follow-up appointment with your doctor to discuss results and next steps
Your doctor may order imaging tests such as ultrasound, CT scan, or MRI
Avoid alcohol if you have liver disease, as it can worsen liver damage
Retest AFP in 4-8 weeks to monitor trends, or sooner if recommended by your physician
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