Vol 91, No 12 (2020)
Research paper
Published online: 2020-12-31

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The significance of maternal blood pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels for the risk assessment of fetal trisomy 18 during the first prenatal testing between 11 and 13+6 weeks of pregnancy

Katarzyna Ziolkowska1, Kinga Tobola-Wrobel2, Piotr Dydowicz3, Sebastian Zurawski1, Marek Pietryga3, Ewa Wysocka1
Pubmed: 33447994
Ginekol Pol 2020;91(12):748-754.

Abstract

Objective: The aim of the study was to evaluate the significance of the maternal blood level of pregnancy-associated plasma
protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG), to estimate the risk of fetal trisomy
18 and their correlation with the assessment of nuchal translucency (NT) during the first prenatal testing.
Material and methods: Examinations of 93 pregnant women between 11 and 13+6 weeks of pregnancy were conducted,
which included determination of β-hCG and PAPP-A concentrations in the maternal serum and ultrasound assessment of
fetal nuchal translucency. Concentrations of biochemical parameters were expressed as multiples of median (MoM) for the
appropriate gestational age. The risk assessment of trisomy 18 was analyzed using Astraia software. Pregnant women with
a high (≥ 1:300) risk of trisomy 18 were offered a genetic amniocentesis with an examination of fetal karyotype. Twenty
cases were healthy and 23 with trisomy 18.
Results: PAPP-A and β-hCG MoM values < 0.3 were found in 61% cases of fetal trisomy 18. In 26% of cases, PAPP-A and
β-hCG MoM values < 0.2 were NT-independent risk factors for trisomy 18. There were no significant differences between
groups with normal fetal karyotype (40%) and trisomy 18 (35%) in PAPP-A and β-hCG MoM 0.2–0.5 range.
Conclusions: Maternal free β-hCG MoM was found to change parallelly to fetal NT widening in case of trisomy 18 diagnosis.
Maternal β-hCG and PAPP-A MoM results presented less then 0.2 might be used independently of NT widening in
fetus for trisomy 18 risk evaluation. Above 0.2 for PAPP-A and β-hCG MoMs, fetal NT measurement was an requirment.

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References

  1. Kotarski J, Wielgoś M. (zespół ekspertów). Rekomendacje Polskiego Towarzystwa Ginekologicznego dotyczące postępowania w zakresie diagnostyki prenatalnej. Ginekol Pol. 2009; 80: 390–393.
  2. Wielgoś M. Diagnostyka prenatalna z elementami perinatologii. Via Medica, Gdańsk 2009: 1–45.
  3. Pietryga M, Brązert J. 3.2. In: Podstawy praktycznej ultrasonografii w ginekologii i położnictwie. Exemplum. 2009: 276–296.
  4. Pietryga M, Brązert J. 2. In: Praktyczna ultrasonografia w położnictwie i ginekologii. Exemplum. 2012: 8–102.
  5. Ziolkowska K, Dydowicz P, Sobkowski M, et al. The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy. Ginekol Pol. 2019; 90(3): 161–166.
  6. Nicolaides KH, Węgrzyn P. Badanie ultrasonograficzne między 11+0 – 13+6 tygodniem ciąży. Termedia. 2004; 14-16: 25–43.
  7. Kagan KO, Wright D, Valencia C, et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod. 2008; 23(9): 1968–1975.
  8. Sieroszewski P, Słowakiewicz K, Perenc M. Interpretacja fałszywie dodatnich wyników biochemicznych testów prenatalnych. Ginekol Pol. 2010; 81: 210–214.
  9. Wright D, Syngelaki A, Bradbury I, et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014; 35(2): 118–126.
  10. Shiefa S, Amargandhi M, Bhupendra J, et al. First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. Indian J Clin Biochem. 2013; 28(1): 3–12.
  11. Nicolaides KH, Syngelaki A, Poon LC, et al. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther. 2014; 35(3): 185–192.
  12. Pietryga M. Ultrasonografia w ginekologii i położnictwie. Exemplum. 2020; 159-170: 657–662.
  13. Tul N, Spencer K, Noble P, et al. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free β -hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn. 1999; 19(11): 1035–1042, doi: 10.1002/(sici)1097-0223(199911)19:11<1035::aid-pd694>3.0.co;2-2.
  14. Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet. 2007; 145C(1): 18–32.
  15. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011; 31(1): 7–15.
  16. Stembalska A, Łaczmańska I, Dudarewicz L. Test PAPP-A – prenatalne badanie skriningowe aneuploidii chromosomów 13, 18 i 21. Perinat Neonat. I Ginekol. 2011; 4(1): 49–53.
  17. Graaf Ide, Pajkrt E, Bilardo C, et al. Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn. 1999; 19(5): 458–462, doi: 10.1002/(sici)1097-0223(199905)19:5<458::aid-pd569>3.0.co;2-a.
  18. Bestwick JP, Huttly WJ, Wald NJ. Detection of trisomy 18 and trisomy 13 using first and second trimester Down's syndrome screening markers. J Med Screen. 2013; 20(2): 57–65.
  19. Wagner P, Sonek J, Hoopmann M, et al. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol. 2016; 48(4): 446–451.
  20. Park SY, Jang InA, Lee MA, et al. Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy. Obstet Gynecol Sci. 2016; 59(5): 357–366.
  21. Pietryga M, Dydowicz P, Toboła K, et al. Selected oxidative stress biomarkers in antenatal diagnosis as 11-14 gestational weeks. Free Radic Biol Med. 2017; 108: 517–523.