Turner syndrome-omphalocele association: incidence, karyotype, phenotype and fetal outcome
Open accessAbstract
OBJECTIVE: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The presence of a frank cystic hygroma increases the likelihood of diagnosing TS.
“However, the presence of a frank cystic hygroma increases the likelihood of diagnosing TS.46,51”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [51]
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 [51]
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 [51]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
National population‐based estimates for major birth defects, 2010–2014
Mai, C. T., Isenburg, J. L., Canfield, M. A., Meyer, R. E., Correa, A., Alverson, C. J., Lupo, P. J., Riehle‐Colarusso, T. J., Cho, S. J., Aggarwal, D., et al. (2019) · Birth Defects Research · doi:10.1002/bdr2.1589 · Cited by 950 · see citing works
Hook, E., & Warburton, D. (1983) · Human Genetics · doi:10.1007/bf00289473 · Cited by 406 · see citing works
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356 · see citing works
Neonatal abdominal wall defects
Christison-Lagay, E. R., Kelleher, C. M., & Langer, J. C. (2011) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2011.02.003 · Cited by 294 · see citing works
Characteristics and outcome of 90 cases of fetal omphalocele
Brantberg, A., Blaas, H. ‐. K., Haugen, S. E., & Eik‐Nes, S. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1978 · Cited by 224 · see citing works
Increased Nuchal Translucency as a Marker for Fetal Chromosomal Defects
Taipale, P., Hiilesmaa, V. K., Salonen, R., & Ylöstalo, P. (1997) · New England Journal of Medicine · doi:10.1056/nejm199712043372303 · Cited by 196 · see citing works
Prenatal and postnatal prevalence of Turner's syndrome: a registry study
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1996) · BMJ · doi:10.1136/bmj.312.7022.16 · Cited by 187 · see citing works
Held, K. R., Kerber, S., Kaminsky, E. B., Singh, S., Goetz, P., Seemanová, E., & GOEDDE, H. W. (1992) · Human Genetics · doi:10.1007/bf00197261 · Cited by 181 · see citing works
Sex-chromosome dosage effects on gene expression in humans
Raznahan, A., Parikshak, N. N., Chandran, V., Blumenthal, J. D., Clasen, L. S., Alexander-Bloch, A. F., Zinn, A. R., Wangsa, D., Wise, J., Murphy, D. G. M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1802889115 · Cited by 179 · see citing works
Turner syndrome: evaluation of prenatal diagnosis in 19 European registries
Baena, N., De Vigan, C., Cariati, E., Clementi, M., Stoll, C., Caballín, M. R., Guitart, M., & The Euroscan working group (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30092 · Cited by 160 · see citing works
Fetal Omphalocele Detected Early in Pregnancy: Associated Anomalies and Outcomes
Blazer, S., Zimmer, E. Z., Gover, A., & Bronshtein, M. (2004) · Radiology · doi:10.1148/radiol.2321030795 · Cited by 156 · see citing works
Widespread DNA hypomethylation and differential gene expression in Turner syndrome
Trolle, C., Nielsen, M. M., Skakkebæk, A., Lamy, P., Vang, S., Hedegaard, J., Nordentoft, I., Ørntoft, T. F., Pedersen, J. S., & Gravholt, C. H. (2016) · Scientific Reports · doi:10.1038/srep34220 · Cited by 149 · see citing works
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · cited 1× · see citing works
“Recent evidence suggests that the karyotype– phenotype relation cannot be explained by the gene dosage alone and epigenetic mechanisms may influence autosomal gene expression.(34,35) The prenatal phenotype includes fetal hydrops, cystic hygroma, congenital heart defects primarily affecting the left outflow”
BackgroundJeon, K. C., Chen, L.-S., & Goodson, P. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822e57a7 · Cited by 139 · see citing works
The 11–13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis
Kagan, K. O., Staboulidou, I., Syngelaki, A., Cruz, J., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.7646 · Cited by 108 · see citing works
Turner's syndrome in fetal life
Surerus, E., Huggon, I. C., & Allan, L. D. (2003) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.151 · Cited by 106 · see citing works
Zhang, X., Hong, D., Ma, S., Ward, T., Ho, M., Pattni, R., Duren, Z., Stankov, A., Bade Shrestha, S., Hallmayer, J., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910003117 · Cited by 101 · see citing works
Viuff, M. H., Stochholm, K., Uldbjerg, N., Nielsen, B. B., the Danish Fetal Medicine Study Group, & Gravholt, C. H. (2015) · Human Reproduction · doi:10.1093/humrep/dev192 · Cited by 78 · see citing works
What microRNAs could tell us about the human X chromosome
Palo, A. D., Siniscalchi, C., Salerno, M., Russo, A., Gravholt, C. H., & Potenza, N. (2020) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03526-7 · Cited by 75 · see citing works
Prenatal Diagnosis of Turner Syndrome: Report on 69 Cases
Papp, C., Beke, A., Mezei, G., Szigeti, Z., Bán, Z., & Papp, Z. (2006) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2006.25.6.711 · Cited by 74 · see citing works
Chromosomal Abnormalities Associated With Omphalocele
Chen, C. (2007) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/s1028-4559(08)60099-6 · Cited by 74 · see citing works
FIRST-TRIMESTER SONOGRAPHY OF PHYSIOLOGICAL MIDGUT HERNIATION AND EARLY DIAGNOSIS OF OMPHALOCELE
van Zalen-Sprock, R. M., van Vugt, J. M. G., & van Geijn, H. P. (1997) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199706)17:6 · Cited by 74 · see citing works
Loss of AP-2α impacts multiple aspects of ventral body wall development and closure
Brewer, S., & Williams, T. (2004) · Developmental Biology · doi:10.1016/j.ydbio.2003.11.021 · Cited by 70 · see citing works
Epigenetics and genomics in Turner syndrome
Viuff, M. H., Skakkebaek, A. H., Nielsen, M. M., Chang, S., & Gravholt, C. H. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31683 · Cited by 63 · see citing works
Complex Abdominal Wall Defects: Appearances at Prenatal Imaging
Pakdaman, R., Woodward, P. J., & Kennedy, A. (2015) · Radiographics · doi:10.1148/rg.352140104 · Cited by 58 · see citing works
Syngelaki, A., Guerra, L., Ceccacci, I., Efetürk, T., & Nicolaides, K. H. (2016) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.17286 · Cited by 56 · see citing works
Achiron, R., Soriano, D., Lipitz, S., Mashiach, S., Goldman, B., & Seidman, D. S. (1995) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1995.06040256.x · Cited by 54 · see citing works
Lin, A. E., Prakash, S. K., Andersen, N. H., Viuff, M. H., Levitsky, L. L., Rivera‐Davila, M., Crenshaw, M. L., Hansen, L., Colvin, M. K., Hayes, F. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61310 · Cited by 50 · see citing works
Outcome of fetal exomphalos diagnosed at 11–14 weeks of gestation
Khalil, A. A., Arnaoutoglou, C., Pacilli, M., Szabó, A., David, A. L., & Pandya, P. P. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.10048 · Cited by 49 · see citing works
First-trimester midgut herniation: A high-frequency transvaginal sonographic study
Timor‐Tritsch, I. E., Warren, W. B., Peisner, D. B., & Pirrone, E. C. (1989) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(89)90411-0 · Cited by 47 · see citing works
Fetal exomphalos at 11 to 14 weeks of gestation.
Snijders, R. J. M., Brizot, M. D. L., Faria, M. R., & Nicolaides, K. H. (1995) · Journal of Ultrasound in Medicine · doi:10.7863/jum.1995.14.8.569 · Cited by 47 · see citing works
Omphalocele—What should we tell the prospective parents?
Adams, A. D., Stover, S. R., & Rac, M. W. F. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5886 · Cited by 43 · see citing works
Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study
Iyer, N. P., Tucker, D., Roberts, S. H., Moselhi, M., Morgan, M., & Matthes, J. (2011) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2011.564688 · Cited by 42 · see citing works
Toriello, H. V., Higgins, J. V., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320210121 · Cited by 38 · see citing works
Fetal anterior abdominal wall defects: prenatal imaging by magnetic resonance imaging
Victoria, T., Andronikou, S., Bowen, D. K., Laje, P., Weiß, D., Johnson, A. M., Peranteau, W. H., Canning, D. A., & Adzick, N. S. (2018) · Pediatric Radiology · doi:10.1007/s00247-017-3914-x · Cited by 37 · see citing works
Shi, X., Tang, H., Lü, J., Yang, X., Ding, H., & Wu, J. T. (2021) · Annals of Medicine · doi:10.1080/07853890.2021.1962966 · Cited by 29 · see citing works
An Algorithmic Approach to Complex Fetal Abdominal Wall Defects
Revels, J. W., Wang, S. S., Nasrullah, A., Revzin, M. V., Iyer, R. S., Deutsch, G. H., Katz, D. S., & Moshiri, M. (2019) · American Journal of Roentgenology · doi:10.2214/ajr.19.21627 · Cited by 28 · see citing works
Hidaka, N., Tsukimori, K., Hojo, S., Fujita, Y., Yumoto, Y., Masumoto, K., Taguchi, T., & Wake, N. (2008) · Journal of Perinatal Medicine · doi:10.1515/jpm.2009.019 · Cited by 27 · see citing works
Johannsen, E. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Lauritsen, K. M., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.928874 · Cited by 24 · see citing works
Diagnosis of abdominal wall defects in the first trimester
Tassin, M., & Benachi, A. (2014) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0000000000000053 · Cited by 23 · see citing works
Omphalocele: a review of common genetic etiologies
Poaty, H., Pelluard, F., Diallo, M. S., Ondima, I. P. L., André, G., & Silou-Massamba, J.-F. (2019) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-019-0040-3 · Cited by 18 · see citing works
Benjamin, B. G., & Wilson, G. N. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37236 · Cited by 17 · see citing works
Evaluation of First-Trimester Physiological Midgut Herniation Using Three-Dimensional Ultrasound
Bogers, H., Baken, L., Cohen-Overbeek, T. E., Koning, A. H. J., Willemsen, S. P., van der Spek, P. J., Exalto, N., & Steegers, E. A. P. (2019) · Fetal Diagnosis and Therapy · doi:10.1159/000489260 · Cited by 17 · see citing works
Chen, C. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1823 · Cited by 16 · see citing works
Sonographic Prenatal Diagnosis of Turner Syndrome
Polivka, B., & Merideth, K. L. (2014) · Journal of diagnostic medical sonography · doi:10.1177/8756479314555222 · Cited by 9 · see citing works
Cystic hygroma and omphalocele at 11 weeks in a fetus with monosomy X
Goldstein, I., & Drugan, A. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1409 · Cited by 9 · see citing works
Turner syndrome associated with an omphalocele
Saller, D. N., Dailey, J. V., Doyle, D. L., Carr, S. R., Canick, J. A., & Rogers, B. B. (1993) · Prenatal Diagnosis · doi:10.1002/pd.1970130517 · Cited by 9 · see citing works
Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?
Bedei, I. A., Graf, A., Gloning, K.-P., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Hentze, S., Scharf, A., Degenhardt, J., Heling, K., et al. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11154588 · Cited by 9 · see citing works
Improving the prenatal diagnosis of Beckwith–Wiedemann syndrome
den Veyver, I. B. V. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5971 · Cited by 7 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Govaerts LCP, Bongers MY, Lammens MMY, Tuerlings JHAM, van de Kaa CA. Letter to the editor. Monosomy X and ompalocele. Prenat Diagn. 1997;17(3):282. https://doi.org/10.1002/(sici)1097-0223 (199703)17:3<282::aid-pd72>3.0.co;2-g · DOI
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Omphalocele and Cardiac Abnormalities—The Importance of the Association
Țarcă, E., Namat, D. A., Luca, A.-C., Lupu, V. V., Namat, R. A., Lupu, A., Bălănescu, L., Bernic, J., Butnariu, L. I., Moscalu, M., et al. (2023) · Diagnostics · doi:10.3390/diagnostics13081413 · Cited by 7 · see citing works
Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology
Formstone, C. J., Aldeiri, B., Davenport, M., & Francis‐West, P. H. (2024) · Developmental Dynamics · doi:10.1002/dvdy.735 · Cited by 7 · see citing works
Prenatal screening and diagnosis of sex chromosome conditions: The new normal?
Hui, L., & Langlois, S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6323 · Cited by 2 · see citing works
Comparing Sonography and CVS for Early Detection of Congenital Disorders Before 12 Weeks
Khan, J. A., Batool, F., Noor, J., & Rasheed, A. (2025) · Advanced ultrasound in diagnosis and therapy · doi:10.26599/audt.2025.240072 · Cited by 1 · see citing works
Ma, J., Liang, L., Liu, S., Yan, K., Liu, X., & Zhang, L. (2024) · Research Square · doi:10.21203/rs.3.rs-4536573/v1
[Reflections on the clinical diagnosis and management of Turner syndrome].
Gu, W., & Zhao, X. Y. (2024) · PubMed Central · doi:10.7499/j.issn.1008-8830.2407176
Ma, J., Liang, L., Liu, S., Yan, K., Zhang, L., & Zhang, L. (2025) · International Journal of Women s Health · doi:10.2147/ijwh.s526423
- Authors
- Bedei, I., Gloning, K., Joyeux, L., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., Trautmann, K., Jahns, K. M., Geipel, A., Tekesin, I., Elsässer, M., Wilhelm, L., Gottschalk, I., Baumüller, J., Birdir, C., Schröer, A., Zöllner, F., Wolter, A., Schenk, J., Gehrke, T., Spaeth, A., & Axt‐Fliedner, R.
- Affiliations
- Justus-Liebig-Universität Gießen (DE)
- Prenatal Medicine and Genetics München München Germany
- Baylor College of Medicine (US)
- Klinikum Rheine (DE)
- Center for Prenatal Medicine and Human Genetics Hamburg Germany
- Center for Prenatal Medicine on Elbe Hamburg Germany
- Center for Prenatal Medicine Mainz Germany
- Praenatal plus Köln Germany
- Zentrum für Pränataldiagnostik (DE)
- Praenatal.de, Prenatal Medicine and Genetics Düsseldorf Düsseldorf Germany
- Center for Prenatal Medicine “am Salzhaus” Frankfurt Germany
- Johannes Gutenberg University Mainz (DE)
- University Hospital Bonn (DE)
- Prenatal Medicine Stuttgart Stuttgart Germany
- Heidelberg University (DE)
- Westend Ultrasound Frankfurt Germany
- University of Cologne (DE)
- Gynaekologikum Frankfurt Germany
- University Hospital Carl Gustav Carus (DE)
- Department of Prenatal Diagnosis and Fetal Therapy Justus‐Liebig University Giessen Giessen Germany
- Corresponding author
- Bedei, Ivonne
- ORCID
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2023-01-31
- Volume
- 43
- Issue
- 2
- Pages
- 183-191
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W4313543653
- Cited by
- 8
- References
- 50
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 2
- FWCI
- 2.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Prenatal Diagnosis (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Lirias (submittedVersion, other-oa)
- Universitätsbibliothek Gießen
- Topics
- Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Turner syndrome, omphalocele, 45,X karyotype, fetal malformations, nuchal translucency, cystic lymphangioma, hydrops fetalis, congenital heart disease, fetal prognosis, first-trimester prenatal diagnosis, incidence
- MeSH terms
- Chromosome Aberrations, Edema, Female, Fetus, Hernia, Umbilical, Humans, Phenotype, Pregnancy, Turner Syndrome, Incidence, Ultrasonography, Prenatal, Nuchal Translucency Measurement, Karyotype
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
