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Alphafetoprotein in midtrimester Down's syndrome fetal serum
1Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London.
Journal of Medical Genetics
|April 1, 1990
Summary
Prenatal screening for Down syndrome involves measuring alphafetoprotein (AFP). After 20 weeks gestation, AFP levels in fetuses with Down syndrome decrease faster than normal, challenging previous screening explanations.
Area of Science:
- Prenatal diagnostics
- Biochemistry
- Genetics
Background:
- Maternal serum alphafetoprotein (AFP) levels are used in prenatal screening for fetal aneuploidies.
- Down syndrome is a common chromosomal abnormality.
- Understanding fetal AFP dynamics is crucial for accurate prenatal screening.
Purpose of the Study:
- To investigate the trend of fetal serum alphafetoprotein (AFP) levels in fetuses with and without Down syndrome (DS) or other chromosomal abnormalities.
- To determine if fetal AFP levels in DS fetuses explain the low maternal serum AFP observed during prenatal screening.
Main Methods:
- Serum AFP levels were measured in fetuses between the 17th and 28th week of gestation.
- Fetuses were categorized into three groups: normal, Down syndrome, and other chromosomal abnormalities.
- AFP levels were analyzed over time within each group.
Main Results:
- In normal fetuses, AFP levels showed a steady decline from week 17 to 28.
- No significant difference in AFP levels was observed among the three groups before 20 weeks of gestation.
- After 20 weeks, fetuses with Down syndrome exhibited a more rapid decline in serum AFP compared to normal fetuses.
- This accelerated decline in AFP was specific to Down syndrome and not observed in fetuses with other chromosomal abnormalities.
Conclusions:
- The observed rapid decline in fetal serum AFP after 20 weeks in Down syndrome cases does not support the hypothesis that low fetal AFP levels are the sole reason for low maternal serum AFP detected in early second-trimester screening.
- These findings suggest that other factors may contribute to the altered maternal serum AFP levels observed in pregnancies with Down syndrome.
- Further research is needed to elucidate the mechanisms behind reduced maternal serum AFP in Down syndrome pregnancies.