open access
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
, 2, 3, 1, 3, 1
Affiliations- Chair and Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland
- Department of Obstetrics and Women’s Health, Chair of Gynaecology, Obstetrics and Gynaecological Oncology, Poznan University of Medical Sciences, Poznan, Poland
- Prenatal Diagnostic Centre, Gynaecology and Obstetrics Hospital, Poznan University of Medical Sciences, Poznan, Poland
open access
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.
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.
Keywords
trisomy 18; pregnancy-associated plasma protein A (PAPP-A); free beta-subunit of human chorionic gonadotropin (β-hCG); nuchal translucency
About this articleTitle
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
Journal
Issue
Article type
Research paper
Pages
748-754
Published online
2020-12-31
Page views
1213
Article views/downloads
2286
DOI
Pubmed
Bibliographic record
Ginekol Pol 2020;91(12):748-754.
Keywords
trisomy 18
pregnancy-associated plasma protein A (PAPP-A)
free beta-subunit of human chorionic gonadotropin (β-hCG)
nuchal translucency
Authors
Katarzyna Ziolkowska
Kinga Tobola-Wrobel
Piotr Dydowicz
Sebastian Zurawski
Marek Pietryga
Ewa Wysocka
References (21)- Kotarski J, Wielgoś M. (zespół ekspertów). Rekomendacje Polskiego Towarzystwa Ginekologicznego dotyczące postępowania w zakresie diagnostyki prenatalnej. Ginekol Pol. 2009; 80: 390–393.
- Wielgoś M. Diagnostyka prenatalna z elementami perinatologii. Via Medica, Gdańsk 2009: 1–45.
- Pietryga M, Brązert J. 3.2. In: Podstawy praktycznej ultrasonografii w ginekologii i położnictwie. Exemplum. 2009: 276–296.
- Pietryga M, Brązert J. 2. In: Praktyczna ultrasonografia w położnictwie i ginekologii. Exemplum. 2012: 8–102.
- 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.
- Nicolaides KH, Węgrzyn P. Badanie ultrasonograficzne między 11+0 – 13+6 tygodniem ciąży. Termedia. 2004; 14-16: 25–43.
- 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.
- Sieroszewski P, Słowakiewicz K, Perenc M. Interpretacja fałszywie dodatnich wyników biochemicznych testów prenatalnych. Ginekol Pol. 2010; 81: 210–214.
- 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.
- 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.
- 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.
- Pietryga M. Ultrasonografia w ginekologii i położnictwie. Exemplum. 2020; 159-170: 657–662.
- 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.
- Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet. 2007; 145C(1): 18–32.
- Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011; 31(1): 7–15.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
