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First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study
Affiliations- Grigore T Popa University of Medicine and Pharmacy , Department of Obstetrics and Gynecology, 16 Universitatii str, 700115 Iasi, Romania
- Department of Obstetrics and Gynecology, Victor Babes University of Medicine and Pharmacy, Piata E. Murgu 2, 300041 Timisoara, Romania
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Abstract
Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study.
Material and methods: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45–84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A).
Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusions: The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.
Abstract
Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study.
Material and methods: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45–84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A).
Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusions: The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.
Keywords
first-trimester, screening, nuchal translucency, combined test, trisomy 21
About this articleTitle
First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study
Journal
Issue
Article type
Research paper
Pages
206-211
Published online
2018-04-30
Page views
2628
Article views/downloads
1550
DOI
Pubmed
Bibliographic record
Ginekol Pol 2018;89(4):206-211.
Keywords
first-trimester
screening
nuchal translucency
combined test
trisomy 21
Authors
Dragos Nemescu
Adina Bratie
Alexandra Mihaila
Dan Navolan
Adina Tanase
References (26)- Kagan KO, Wright D, Baker A, et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound in Obstetrics and Gynecology. 2008; 31(6): 618–624.
- Cicero S, Rembouskos G, Vandecruys H, et al. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14-week scan. Ultrasound Obstet Gynecol. 2004; 23(3): 218–223.
- Kagan KO, Valencia C, Livanos P, et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol. 2009; 33(1): 18–22.
- Maiz N, Valencia C, Kagan KO, et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 2009; 33(5): 512–517.
- 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.
- Nicolaides K. Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis. 2011; 31(1): 7–15.
- Kagan KO, Etchegaray A, Zhou Y, et al. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol. 2009; 34(1): 14–18.
- Santorum M, Wright D, Syngelaki A, et al. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2017; 49(6): 714–720.
- 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.
- Maiz N, Wright D, Ferreira AF, et al. A mixture model of ductus venosus pulsatility index in screening for aneuploidies at 11-13 weeks' gestation. Fetal Diagn Ther. 2012; 31(4): 221–229.
- Wiechec M, Nocun A, Knafel A, et al. Combined screening test for trisomy 21 - is it as efficient as we believe? J Perinat Med. 2017; 45(2): 185–191.
- Wiechec M, Knafel A, Nocun A, et al. How Effective Is First-Trimester Screening for Trisomy 21 Based on Ultrasound Only? Fetal Diagn Ther. 2016; 39(2): 105–112.
- Abele H, Wagner P, Sonek J, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn. 2015; 35(12): 1182–1186.
- Hsiao CH, Cheng PJ, Shaw SW, et al. Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: a five-year prospective study. Fetal Diagn Ther. 2014; 35(4): 296–301.
- Ghaffari SR, Tahmasebpour AR, Jamal A, et al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study. Ultrasound Obstet Gynecol. 2012; 39(5): 528–534.
- Iliescu D, Tudorache S, Comanescu A, et al. Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol. Ultrasound Obstet Gynecol. 2013; 42(3): 300–309.
- Nemescu D, Berescu A, Rotariu C. Variation of safety indices during in the learning curve for color Doppler assessment of the fetal heart at 11+0 to 13+6 weeks' gestation. Med Ultrason. 2015; 17(4): 464–474.
- Veduta A, Vayna AM, Duta S, et al. The first trimester combined test for aneuploidies - a single center experience. J Matern Fetal Neonatal Med. 2017 [Epub ahead of print]: 1–6.
- Czuba B, Zarotyński D, Dubiel M, et al. Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV - the assessment of efficacy. Ginekol Pol. 2017; 88(9): 481–485.
- Karadzov-Orlic N, Egic A, Filimonovic D, et al. Screening performances of abnormal first-trimester ductus venosus blood flow and increased nuchal translucency thickness in detection of major heart defects. Prenat Diagn. 2015; 35(13): 1308–1315.
- ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109(1): 217–227.
- Carabineanu A, Navolan D, Birsasteanu F, et al. The Effect of Chemical Compounds from Cigarettes Smoke on First Trimester Biochemical Markers. Revista De Chimie. 2017; 68(9): 2122–2124.
- Gil MM, Brik M, Casanova C, et al. Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test. J Matern Fetal Neonatal Med. 2017; 30(20): 2476–2482.
- Navolan D, Vladareanu S, Ciohat I, et al. Distribution of Biochemical and Ultrasound Markers Values in the First Trimester Screening Program in Timisoara. Revista De Chimie. 2017; 68(7): 1636–1639.
- Radoi VE, Bohiltea CL, Bohiltea RE, et al. Cell free fetal DNA testing in maternal blood of Romanian pregnant women. Iran J Reprod Med. 2015; 13(10): 623–626.
- Gyselaers WJA, Vereecken AJ, Van Herck EJH, et al. Population screening for fetal trisomy 21: easy access to screening should be balanced against a uniform ultrasound protocol. Prenat Diagn. 2005; 25(11): 984–990.
