Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review
- 242 Downloads
This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models.
We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data. All imaging methods were performed by one observer. All prenatal diagnoses were confirmed by autopsy in cases of termination of pregnancy or genetic assessment during the postnatal period.
Mean ± standard deviation of maternal and gestational age at the time of diagnosis was 36.5 ± 3.5 years and 32 ± 4.2 weeks, respectively. Main 2D/3D ultrasound and MRI findings were craniosynostosis, hypertelorism, low ear implantation, increased kidneys dimensions, and syndactyly of hands and feet. 3D virtual/physical models allowed 3D view of fetal head and extremity abnormalities. Termination of pregnancy occurred in two cases.
Prenatal 3D ultrasound and MRI enabled the identification of all Apert syndrome phenotypes. 3D virtual/physical models provided both the parents and the medical team a better understanding of fetal abnormalities.
KeywordsApert syndrome Prenatal diagnosis Three-dimensional ultrasound Magnetic resonance imaging Physical models
Compliance with ethical standards
Conflict of interest
The authors declare no conflict of interest.
- 1.Tolarova MM, Harris JA, Ordway DE, Vargervik K (1997) Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome. Am J Med Genet 72(4):394–398. https://doi.org/10.1002/(SICI)1096-8628(19971112)72:4<394::AID-AJMG4>3.0.CO;2-R CrossRefPubMedGoogle Scholar
- 5.Giancotti A, D’Ambrosio V, De Filippis A, Aliberti C, Pasquali G, Bernardo S, Manganaro L, PECRAM Study Group (2014) Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. Childs Nerv Syst 30(8):1445–1448. https://doi.org/10.1007/s00381-014-2377-8 PubMedCrossRefGoogle Scholar
- 7.Werner H, Rolo LC, Araujo Júnior E, Dos Santos JR (2014) Manufacturing models of fetal malformations built from 3-dimensional ultrasound, magnetic resonance imaging, and computed tomography scan data. Ultrasound Q 30(1):69–75. https://doi.org/10.1097/RUQ.0000000000000048 CrossRefPubMedGoogle Scholar
- 9.Werner H, Lopes J, Tonni G, Araujo Júnior E (2016) Maternal-fetal attachment in blind women using physical model from three-dimensional ultrasound and magnetic resonance scan data: six serious cases. J Matern Fetal Neonatal Med 29(14):2229–2232. https://doi.org/10.3109/14767058.2015.1085015 PubMedCrossRefGoogle Scholar
- 19.Nout E, Bannink N, Koudstaal MJ, Veenland JF, Joosten KF, Poublon RM, van der Wal KG, Mathijssen IM, Wolvius EB (2012) Upper airway changes in syndromic craniosynostosis patients following midface or monobloc advancement: correlation between volume changes and respiratory outcome. J Craniomaxillofac Surg 40(3):209–214. https://doi.org/10.1016/j.jcms.2011.04.017 CrossRefPubMedGoogle Scholar
- 21.Werner H, Castro P, Daltro P, Lopes dos Santos J, Ribeiro G, Tonni G, Campbell S, Araujo Júnior E (2017) Monochorionic diamniotic quadruplet pregnancy: physical models from prenatal three-dimensional ultrasound and magnetic resonance imaging data. Ultrasound Obstet Gynecol 49(6):812–814. https://doi.org/10.1002/uog.17243 CrossRefPubMedGoogle Scholar
- 23.Chen CP, Su YN, Hsu CY, Ling PY, Tsai FJ, Chern SR, Wu PC, Chen HE, Wang W (2010) Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18. Taiwan J Obstet Gynecol 49(1):129–312. https://doi.org/10.1016/S1028-4559(10)60028-9 CrossRefPubMedGoogle Scholar
- 24.Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R, Steiner H (2010) Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther 27(1):51–56. https://doi.org/10.1159/000262447 CrossRefPubMedGoogle Scholar
- 26.Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G, Bontis JN (2008) Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther 24(4):495–498. https://doi.org/10.1159/000181186 CrossRefPubMedGoogle Scholar