open access
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
Affiliations- Chair and Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland
- Ultrasound and Prenatal Diagnostic Laboratory, Gynaecology and Obstetrics Hospital, Poznan University of Medical Sciences, Poznan, Poland
- Department of Mother and Child Health, Poznan University of Medical Sciences, Poznan, Poland
- Department of Obstetrics and Female Health, Chair of Gynaecology, Obstetrics and Gynaecological Oncology, Poznan University of Medical Sciences, Poznan, Poland
open access
Abstract
Objectives: The aim of the study was to analyze the correlation of multiples of the normal median of PAPP-A, free β-hCG levels and nuchal translucency values in prenatal, first trimester screening of trisomy 21 in pregnant women. Material and methods: 251 pregnant women underwent antenatal screening at 11–13+6 weeks of pregnancy which was composed of the measurement of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A) levels in the maternal serum and an ultrasound assessment of nuchal translucency (NT). The pregnant women with a high risk of trisomy 21 (≥ 1:300) were given amniocentesis to verify fetal defects. There were 217 cases of normal fetal karyotype and 34 cases of trisomy 21. PAPP-A, β-hCGMoM and NT values were analyzed for the predefined ranges. Results: 85% cases of trisomy 21 had elevated free β-hCGMoM ( > 1.5) and only 53% of these had a PAPP-AMoM result below 0.5 (p < 0.05). Analysis of NT in selected ranges of β-hCG ( > 1.5) and PAPP-AMoM ( < 0.05), which are typical for Down Syndrome values, showed that not all fetuses with Down Syndrome presented with an increased NT. Respectively 44.15% and 26.5% of fetuses presented with increased NT. Characteristic for trisomy 21, a correlation with all 1st trimester screening tests’ parameters occurred in only 23.5% of cases. In 53% of cases the results were atypical. Conclusions: The PAPP-A and β-hCG values in the selected MoM ranges did not shown a correlation to the NT measurement, therefore they are independent factors in the diagnosis of trisomy 21. Simultaneous biochemical and ultrasound testing is an indispensable condition for prenatal diagnosis of trisomy 21 in the 1st trimester of pregnancy.
Abstract
Objectives: The aim of the study was to analyze the correlation of multiples of the normal median of PAPP-A, free β-hCG levels and nuchal translucency values in prenatal, first trimester screening of trisomy 21 in pregnant women. Material and methods: 251 pregnant women underwent antenatal screening at 11–13+6 weeks of pregnancy which was composed of the measurement of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A) levels in the maternal serum and an ultrasound assessment of nuchal translucency (NT). The pregnant women with a high risk of trisomy 21 (≥ 1:300) were given amniocentesis to verify fetal defects. There were 217 cases of normal fetal karyotype and 34 cases of trisomy 21. PAPP-A, β-hCGMoM and NT values were analyzed for the predefined ranges. Results: 85% cases of trisomy 21 had elevated free β-hCGMoM ( > 1.5) and only 53% of these had a PAPP-AMoM result below 0.5 (p < 0.05). Analysis of NT in selected ranges of β-hCG ( > 1.5) and PAPP-AMoM ( < 0.05), which are typical for Down Syndrome values, showed that not all fetuses with Down Syndrome presented with an increased NT. Respectively 44.15% and 26.5% of fetuses presented with increased NT. Characteristic for trisomy 21, a correlation with all 1st trimester screening tests’ parameters occurred in only 23.5% of cases. In 53% of cases the results were atypical. Conclusions: The PAPP-A and β-hCG values in the selected MoM ranges did not shown a correlation to the NT measurement, therefore they are independent factors in the diagnosis of trisomy 21. Simultaneous biochemical and ultrasound testing is an indispensable condition for prenatal diagnosis of trisomy 21 in the 1st trimester of pregnancy.
Keywords
PAPP-A; free β-hCG; nuchal translucency (NT); prenatal screening; trisomy 21
About this articleTitle
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
Journal
Issue
Article type
Research paper
Pages
161-166
Published online
2019-03-29
Page views
5068
Article views/downloads
11830
DOI
Pubmed
Bibliographic record
Ginekol Pol 2019;90(3):161-166.
Keywords
PAPP-A
free β-hCG
nuchal translucency (NT)
prenatal screening
trisomy 21
Authors
Katarzyna Ziolkowska
Piotr Dydowicz
Maciej Sobkowski
Kinga Tobola-Wrobel
Ewa Wysocka
Marek Pietryga
References (22)- Zespół ekspertów pod kier. J. Kotarski, M. Wielgoś. Rekomendacje Polskiego Towarzystwa Ginekologicznego dotyczące postępowania w zakresie diagnostyki prenatalnej. Ginekol Pol. 2009; 80: 390–393.
- Nicolaides KH, Węgrzyn P. Badanie ultrasonograficzne między 11+0 – 13+6 tygodniem ciąży. Termedia 2004: 14–16, 25–43.
- Ed. Wielgoś M. Diagnostyka prenatalna z elementami perinatologii. Via Medica 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.
- Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003; 21(4): 313–321.
- 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.
- Avgidou K, Papageorghiou A, Bindra R, et al. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol. 2005; 192(6): 1761–1767.
- 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.
- Mandryka-Stankewycz S, Perenc M, Dec G, et al. Nieinwazyjny test prenatalny w I trymestrze ciąży (pomiar NT oraz oznaczenia β-hCG i PAPP-A) w diagnostyce wad płodu w populacji polskiej – porównanie biochemicznych norm własnych i danych światowych. Ginecol Pol. 2009; 80: 851–855.
- Schielen PC, van Leeuwen-Spruijt M, Belmouden I, et al. Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn. 2006; 26(8): 711–718.
- Wald NJ, George L, Smith D, et al. Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. BJOG: An International Journal of Obstetrics and Gynaecology. 1996; 103(5): 407–412.
- Borowski D, Czuba B, Cnota W, et al. Ocena poziomów osoczowego białka A (PAPP-A) i wolnej podjednostki beta ludzkiej gonadotropiny kosmówkowej (beta hCG) między 11 a 14 tygodniem ciąży – polskie badania wieloośrodkowe. Ginekol Pol. 2007; 78: 384–387.
- Stembalska A, Łaczmańska I, Dudarewicz L. Nieinwazyjne badania prenatalne w diagnostyce aneuploidii chromosomów 13, 18 i 21 – aspekty teoretyczne i praktyczne. Ginekol Pol. 2011; 82: 126–132.
- 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. PerinatNeonat. I Ginekol. 2011; 4(1): 49–53.
- de Graaf IM, Pajkrt E, Bilardo CM, et al. Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn. 1999; 19(5): 458–462.
- Dembińska-Kieć A, Naskalski J, Solnica B. Diagnostyka laboratoryjna z elementami biochemii klinicznej. Wyd. IV. Edra Urban & Partner, Wrocław 2017: 721–723.
- Instrukcja użytkowania: 6002-0010 / 6002-001C DELFIA Xpress Free hCGβ: Test immunofluorescencyjny wykonany metodą fluorescencjo opóźnionej w czasie. PerkinElmer.
- Instrukcja użytkowania: 6003-0020 / 6003-002C DELFIA Xpress PAPP-A: Test immunofluorescencyjny wykonany metodą fluorescencjo opóźnionej w czasie. PerkinElmer.
