Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound
Open accessAbstract
Objectives: To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second‐trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of the structural defects affecting their baby. Methods: Fetal Medicine Unit database searches to identify Apert syndrome cases. Results: Five cases of Apert syndrome were suspected in the second‐trimester when sonography showed abnormal extremities including syndactyly, and an abnormal skull shape. In 1 case there was increased nuchal translucency with a normal fetal karyotype in the first‐trimester. In all cases, a mutation of the FGFR2 gene confirmed the diagnosis of Apert syndrome. 3D ultrasound was used to show parents the extent of the abnormalities of the skull, face and extremities. Parents were counseled by craniofacial surgeons and geneticists. Conclusion: Apert syndrome can be accurately suspected in the second‐trimester by careful ultrasound examination of the fetus including the extremities and skull shape. 3D ultrasound can be a useful adjunct to 2D examination for parental counseling. Copyright © 2007 John Wiley & Sons, Ltd.
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A small number of reports describe ultrasound detection of craniosynostosis at about 20 weeks.
“Although there have been a few reports of ultrasound diagnosis of craniosynostosis around this time, 47”
From Craniosynostosis (2011) · cites this paper as [47]
Cites
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Oldridge, M., Zackai, E., McDonald-McGinn, D., Iseki, S., Morriss-Kay, G. M., Twigg, S. R. F., Johnson, D., Wall, S. A., Jiang, W., Theda, C., et al. (1999) · American Journal of Human Genetics · doi:10.1086/302245 · Cited by 248 · see citing works
Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
Patton, M. A., Goodship, J., Hayward, R. D., & Lansdown, R. (1988) · Journal of Medical Genetics · doi:10.1136/jmg.25.3.164 · Cited by 101 · see citing works
An Updated Pediatric Perspective on the Apert Syndrome
Cohen, M. M. (1993) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1993.02160330079025 · Cited by 74 · see citing works
Kornman, L., Wortelboer, M. J. M., Beekhuis, J. R., Morssink, L. P., & Mantingh, A. (1997) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199711)17:11 · Cited by 73 · see citing works
Metopic suture in fetuses with Apert syndrome at 22–27 weeks of gestation
Faro, C. B. D. A., Chaoui, R., Węgrzyn, P., et al. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2648 · Cited by 71 · see citing works
Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome
Esser, T., Rogalla, P., Bamberg, C., et al. (2005) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.07.043 · Cited by 37 · see citing works
Cohen, M. M. (1993) · American journal of diseases of children · doi:10.1001/archpedi.1993.02160350033005 · Cited by 31 · see citing works
Pronostic mental du syndrome d'Apert
Rénier, D., Arnaud, É., Cinalli, G., Marchac, D., Brunet, L., Sebag, G. H., Sainte‐Rose, C., & Zérah, M. (1996) · Archives de Pédiatrie · doi:10.1016/0929-693x(96)82156-7 · Cited by 23 · see citing works
Cognitive functioning of young children with Apert's syndrome.
Sarimski, K. (1997) · PubMed · Cited by 19 · see citing works
Cho, F., Kan, Y.-Y., Chen, S., et al. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1316 · Cited by 13 · see citing works
Apert syndrome associated with increased fetal nuchal translucency
Aleem, S., & Howarth, E. S. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1294 · Cited by 9 · see citing works
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Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.235 · Cited by 499 · see citing works
- Authors
- David, A. L., Turnbull, C., Scott, R., Freeman, J., Bilardo, C. M., van Maarle, M., & Chitty, L. S.
- Affiliations
- University College Hospital (GB)
- Great Ormond Street Hospital (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- David, A. L.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2007-05-14
- Volume
- 27
- Issue
- 7
- Pages
- 629-632
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W1994906556
- Cited by
- 61
- References
- 11
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 7 · 2022: 1 · 2021: 2 · 2020: 2 · 2018: 3 · 2017: 3 · 2016: 5 · 2015: 1 · 2014: 7 · 2013: 5 · 2012: 3
- FWCI
- 3.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.scopus.com
- Licence
- Locations
- Prenatal Diagnosis (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- Apert syndrome, second trimester prenatal diagnosis, 3D ultrasound, two-dimensional ultrasound, syndactyly, craniosynostosis, FGFR2 mutations, increased nuchal translucency, parental counseling
- MeSH terms
- Acrocephalosyndactylia, Female, Humans, Pregnancy, Pregnancy Trimester, Second, Ultrasonography, Prenatal, Imaging, Three-Dimensional
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