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Down syndrome and low maternal serum alpha fetoprotein
The Australian & New Zealand Journal of Obstetrics & Gynaecology
|November 1, 1990
Summary
Maternal serum alpha-fetoprotein (MSAFP) screening may help detect Down syndrome (DS) risk. A study found low MSAFP levels in some mothers of DS babies, suggesting its diagnostic value.
Area of Science:
- Obstetrics and Gynecology
- Medical Diagnostics
- Genetics
Background:
- Early pregnancy screening is crucial for identifying potential fetal abnormalities.
- Maternal serum alpha-fetoprotein (MSAFP) is a biochemical marker used in prenatal screening.
- Down syndrome (DS) is a genetic disorder requiring early detection for appropriate management.
Purpose of the Study:
- To analyze early pregnancy maternal serum alpha-fetoprotein (MSAFP) levels in relation to Down syndrome (DS) diagnosis.
- To evaluate the utility of MSAFP as a screening tool for DS in women not previously identified as high-risk.
Main Methods:
- Retrospective analysis of MSAFP results from 35 patients delivering babies with Down syndrome.
- MSAFP levels were measured in multiples of the median (MOM) and corrected for maternal weight.
- Data collection spanned from 1981 to mid-1989.
Main Results:
- Eight out of 35 patients (approximately 23%) exhibited an MSAFP level below 0.5 multiples of the median (MOM).
- This finding suggests a correlation between lower MSAFP levels and the presence of Down syndrome.
- Correcting for maternal weight did not alter the observed trend.
Conclusions:
- Mid-trimester hormonal analyses, specifically MSAFP, may aid in diagnosing Down syndrome.
- MSAFP screening can be a valuable tool for identifying DS risk in women considered low-risk.
- These findings support previous research on the effectiveness of biochemical markers in prenatal screening for genetic conditions.