open access

Vol 89, No 4 (2018)
Research paper
Published online: 2018-04-30
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First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

Dragos Nemescu1, Adina Bratie1, Alexandra Mihaila1, Dan Navolan2, Adina Tanase1
DOI: 10.5603/GP.a2018.0035
·
Pubmed: 29781076
·
Ginekol Pol 2018;89(4):206-211.
Affiliations
  1. Grigore T Popa University of Medicine and Pharmacy , Department of Obstetrics and Gynecology, 16 Universitatii str, 700115 Iasi, Romania
  2. Department of Obstetrics and Gynecology, Victor Babes University of Medicine and Pharmacy, Piata E. Murgu 2, 300041 Timisoara, Romania

open access

Vol 89, No 4 (2018)
ORIGINAL PAPERS Obstetrics
Published online: 2018-04-30

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.

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Keywords

first-trimester, screening, nuchal translucency, combined test, trisomy 21

About this article
Title

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

Journal

Ginekologia Polska

Issue

Vol 89, No 4 (2018)

Article type

Research paper

Pages

206-211

Published online

2018-04-30

DOI

10.5603/GP.a2018.0035

Pubmed

29781076

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)
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