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Apr 2022, Vol 10, Issue 2
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Original Article
Pilot Study: Exploring PCSK9 in Maternal Serum as Potential Noninvasive Biomarker for Neural Tube Defects
Mai M. Shaker1, Sahar S. Zaki2, Taghreed A. Shalabi1
1Department of Prenatal Diagnosis and Fetal Medicine, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt
2Department of Biochemical Genetics, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt

IJWHR 2022; 10: 091-096
DOI: 10.15296/ijwhr.2022.17
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Downloaded : 1688 times.

Keywords : Sensitivity, Specificity, Neural tube, Screening, Fetus
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Abstract
Objectives: Neural tube defects (NTDs) are caused by inadequate closing of the neural tube. Alpha-fetoprotein has limitations due to its poor sensitivity and specificity in NTD detection. Proprotein convertase subtilisin/kexin type 9 (PCSK9) appears to have an escalating role in neurogenesis. This study aimed to evaluate the two forms of PCSK9 (Mature PCSK9 and furin cleaved) circulating in NTD maternal sera as a potential novel non-invasive biochemical marker for prenatal screening of NTDs.

Materials and Methods: In this case-control study, the presence of PCSK9 in serum samples of 30 pregnant women with current NTD fetuses (case group) and 30 pregnant women with a healthy singleton pregnancy (control group) was evaluated by Western blot analysis followed by the immuno-precipitation approach.

Results: Median of mature PCSK9/furin ratio among the case group was 0.92 (0.05-2.54) versus 1.29 (0.19-6.62) among the control group (P = 0.02). Receiver operating characteristic curve analysis for mature PCSK9/furin ratio displayed a sensitivity and specificity equal to 63.3%.

Conclusions: The ratio of mature PCSK9 to furin cleaved form was significantly reduced among women with current NTD fetuses compared to women having healthy pregnancies. This ratio can be a potential original biochemical marker in the non-invasive prenatal screening of NTDs.

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