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ADAM12s as a first-trimester screening marker of trisomy
E J Wortelboer1, I H Linskens, M P H Koster
1Department of Obstetrics and Gynecology, University Medical Centre Utrecht, Utrecht, The Netherlands. E.Wortelboer@umcutrecht.nl
Prenatal Diagnosis
|June 23, 2009
Summary
Maternal serum ADAM12s levels are reduced in early first-trimester trisomies. Adding ADAM12s to Down syndrome screening offers limited improvement but may aid in detecting other trisomies.
Area of Science:
- Biochemistry
- Genetics
- Maternal-Fetal Medicine
Background:
- First-trimester screening is crucial for detecting fetal aneuploidies like Down syndrome (DS).
- Current screening methods utilize a combination of maternal age and biochemical markers.
- A Disintegrin And Metalloprotease 12-S (ADAM12s) is a protein found in maternal serum with potential as a screening marker.
Purpose of the Study:
- To assess the utility of maternal serum ADAM12s as an additional marker in the Dutch national Down syndrome screening program.
- To evaluate ADAM12s performance in identifying trisomy 21 (DS), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) in the first trimester.
Main Methods:
- Maternal serum samples from 2004-2007 were analyzed for ADAM12s concentrations.
- 218 singleton DS cases, 62 trisomy 18, and 29 trisomy 13 cases were matched with controls.
- ADAM12s levels were measured and expressed as multiples of the gestation-specific median (MoM).
Main Results:
- ADAM12s levels were significantly reduced in the first trimester for all evaluated trisomies.
- Median ADAM12s MoM values in DS cases varied by gestational week, generally below 1.00 MoM.
- Median ADAM12s MoM was 0.85 for trisomy 18 and 0.63 for trisomy 13.
Conclusions:
- ADAM12s shows reduced levels in early first-trimester trisomies.
- Incorporating ADAM12s into the combined test for Down syndrome screening yielded minimal improvement.
- ADAM12s may serve as a valuable biochemical marker for screening trisomies beyond Down syndrome in the first trimester.
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