Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities

Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome).

Materials and Methods. We performed a retrospective analysis of serum biochemical parameters of 1214 women who had previously undergone karyotyping as a part of prenatal or postnatal screening. Patients were stratified into those with a normal fetal karyotype, those carrying a fetus with trisomy 21, and those carrying a fetus with trisomy 18. Levels of serum β-hCG and PAPP-A were estimated using the AutoDELFIA automatic immunoassay system.

Results. In most of the women carrying a fetus with trisomy 21, serum β-hCG has been increased as compared to the reference range. In contrast, women carrying a fetus with trisomy 18 generally had reduced serum β-hCG. In both cases, the level of serum PAPP-A has been decreased in comparison with a reference range. The proportion of women with a 2-fold reduced serum PAPP-A was 52.4% and 88.6% if carrying fetuses with trisomy 21 and trisomy 18, respectively.

Conclusion. Serum b -hCG has been increased as compared to the reference range. In contrast, women carrying a fetus with trisomy 18 generally had reduced serum β-hCG. In both cases, the level of serum PAPP-A has been decreased in comparison with a reference range. The proportion of women with a 2-fold reduced serum PAPP-A was 52.4% and 88.6% if carrying fetuses with trisomy 21 and trisomy 18, respectively.

Conclusion. Serum b-hCG and PAPP-A are sensitive markers of fetal trisomy 21 and trisomy 18 in pregnant women.

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24. Wald NJ, Bestwick JP, Huttly WJ. Improvements in antenatal screening for Down’s syndrome J Med Screen. 2013;20(1):7-14 http://doi.org/10.1177/0969141313476496

25. Kagan KO, Sonek J, Kozlowski P. Antenatal screening for chromosomal abnormalities. Arch Gynecol Obstet. 2022;305(4):825-835. http://doi.org/10.1007/s00404-022-06477-5

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27. Huang T, Bedford HM, Rashid S, Rasasakaram E, Priston M, MakTam E, Gibbons C, Meschino WS, Cuckle H, Mei-Dan E. Modifi multiple marker aneuploidy screening as a primary screening test for preeclampsia. BMC Pregnancy Childbirth. 2022;22(1):190. https://doi.org/10.1186/s12884-022-04514-4

28. Antsaklis P, Fasoulakis Z, Theodora M. Association of low maternal pregnancy-associated plasma protein A with adverse perinatal outcome. Cureus. 2019;11(6):e4912. https://doi.org/10.7759/cureus.4912

29. Luewan S, Teja-intr M, Sirichotiyakul S, Tongsong T Low maternal serum pregnancy-associated plasma protein-A as a risk factor of preeclampsia. Singapore Med J. 2018;59(1):55-59. doi: 10.11622/smedj.2017034