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Cited by 68Prenatal Screening and DiagnosticsFetal and Pediatric Neurological DisordersCongenital Anomalies and Fetal Surgery

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan

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Wagner, P., Sonek, J., Hoopmann, M., Abele, H., Kagan, K. O.·2016·Ultrasound in Obstetrics & Gynecology
DOI 10.1002/uog.15829
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Abstract

OBJECTIVE: To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. METHODS: This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. RESULTS: The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95.6% with the addition of NB, TV flow and DV flow. CONCLUSION: A detailed anomaly scan at 11-13 weeks' gestation can identify about 95% of fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

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  • Depending on fetal TS karyotype, cardiac anomalies are described in 7.8%-72% of prenatal series.

    “Depending on fetal TS karyotype, cardiac anomalies are described in 7.8%-72% of prenatal series.50-53”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [52]

  • Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.

    “Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.45,50-54”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [52]

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Authors
Wagner, P., Sonek, J., Hoopmann, M., Abele, H., & Kagan, K. O.
Affiliations
  • University of Tübingen (DE)
  • Wright State University (US)
Corresponding author
Kagan, K. O.
ORCID
Venue
Ultrasound in Obstetrics & Gynecology
Publisher
Wiley
Published
2016-10
Volume
48
Issue
4
Pages
446-451
ISSN
  • 0960-7692 (ISSN-L)
  • 1469-0705
DOI
10.1002/uog.15829
OpenAlex
W2176458171
Cited by
68
References
26
Citations by year
2026: 2 · 2025: 6 · 2024: 5 · 2023: 11 · 2022: 5 · 2021: 9 · 2020: 6 · 2019: 3 · 2018: 10 · 2017: 7 · 2016: 3 · 2015: 1
FWCI
6.99
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4 d)
Locations
  • Ultrasound in Obstetrics and Gynecology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
Keywords
first-trimester ultrasound screening, trisomy 18, trisomy 13, triploidy, Turner syndrome, nuchal translucency, nasal bone, ductus venosus blood flow, fetal anomaly scan, aneuploidy detection, false positive rate, maternal age, prenatal diagnosis, aneuploidy risk
MeSH terms
Trisomy 13 Syndrome, Trisomy 18 Syndrome, Adult, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, Down Syndrome, Female, Humans, Maternal Age, Pregnancy, Pregnancy Trimester, First, Retrospective Studies, Sensitivity and Specificity, Trisomy, Turner Syndrome, Ultrasonography, Prenatal, Chromosome Disorders, Triploidy, Abnormal Karyotype

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