Advertisement

Fetal magnetic resonance imaging of skeletal dysplasias

  • Leah A. GilliganEmail author
  • Maria A. Calvo-Garcia
  • K. Nicole Weaver
  • Beth M. Kline-Fath
Original Article

Abstract

Background

Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.

Objective

The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.

Materials and methods

This retrospective study was approved by the institutional review board; informed consent was waived. Women referred for suspected fetal skeletal dysplasia who underwent MRI between January 2003 and December 2018 were included. Definitive diagnoses were determined by genetic testing, autopsy, physical examination and/or postnatal/postmortem imaging. Fetal MRI examinations and reports were reviewed. Descriptive statistics were used to summarize imaging findings.

Results

Eighty-nine women were referred for fetal MRI for possible skeletal dysplasia. Forty-three (48%) were determined to have a diagnosis other than skeletal dysplasia and nine were excluded for lack of specific skeletal dysplasia diagnosis. Thirty-seven cases of skeletal dysplasia with available fetal MRI and specific diagnosis were included for analysis. Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomelic dysplasia (n=2), Jeune syndrome (n=1), Kniest dysplasia (n=1), osteogenesis imperfecta (n=15) and thanatophoric dysplasia (n=10). A specific skeletal dysplasia diagnosis was mentioned in 17/37 (46%) of MRI imaging reports and correct for 14/17 (82%). MRI findings were reported for each specific skeletal dysplasia diagnosis.

Conclusion

Fetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.

Keywords

Achondroplasia Fetus Magnetic resonance imaging Osteogenesis imperfecta Skeletal dysplasia Thanatophoric dysplasia 

Notes

Compliance with ethical standards

Conflicts of interest

None

References

  1. 1.
    Bonafe L, Cormier-Daire V, Hall C et al (2015) Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 167A:2869–2892CrossRefGoogle Scholar
  2. 2.
    Orioli IM, Castilla EE, Barbosa-Neto JG (1986) The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:328–332CrossRefGoogle Scholar
  3. 3.
    Dighe M, Fligner C, Cheng E et al (2008) Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 28:1061–1077CrossRefGoogle Scholar
  4. 4.
    Doray B, Favre R, Viville B et al (2000) Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann Genet 43:163–169CrossRefGoogle Scholar
  5. 5.
    Gaffney G, Manning N, Boyd PA et al (1998) Prenatal sonographic diagnosis of skeletal dysplasias—a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 18:357–362CrossRefGoogle Scholar
  6. 6.
    Parilla BV, Leeth EA, Kambich MP et al (2003) Antenatal detection of skeletal dysplasias. J Ultrasound Med 22:255–258CrossRefGoogle Scholar
  7. 7.
    Rahemtullah A, McGillivray B, Wilson RD (1997) Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol 177:864–869CrossRefGoogle Scholar
  8. 8.
    Ramus RM, Martin LB, Twickler DM (1998) Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio. Am J Obstet Gynecol 179:1348–1352CrossRefGoogle Scholar
  9. 9.
    Teele RL (2006) A guide to the recognition of skeletal disorders in the fetus. Pediatr Radiol 36:473–484CrossRefGoogle Scholar
  10. 10.
    Krakow D, Lachman RS, Rimoin DL (2009) Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 11:127–133CrossRefGoogle Scholar
  11. 11.
    Schramm T, Gloning KP, Minderer S et al (2009) Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 34:160–170CrossRefGoogle Scholar
  12. 12.
    Victoria T, Zhu X, Lachman R et al (2018) What is new in prenatal skeletal dysplasias? AJR Am J Roentgenol 210:1022–1033CrossRefGoogle Scholar
  13. 13.
    Miyazaki O, Nishimura G, Sago H et al (2012) Prenatal diagnosis of fetal skeletal dysplasia with 3D CT. Pediatr Radiol 42:842–852CrossRefGoogle Scholar
  14. 14.
    Weaver KN, Johnson J, Kline-Fath B et al (2014) Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. Prenat Diagn 34:1326–1331CrossRefGoogle Scholar
  15. 15.
    Fink AM, Hingston T, Sampson A et al (2010) Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. Pediatr Radiol 40(Suppl 1):S134–S137CrossRefGoogle Scholar
  16. 16.
    Suzumura H, Kohno T, Nishimura G et al (2002) Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. Pediatr Radiol 32:373–375CrossRefGoogle Scholar
  17. 17.
    Berceanu C, Gheonea IA, Vladareanu S et al (2017) Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. Med Ultrason 19:66–72CrossRefGoogle Scholar
  18. 18.
    Miller E, Blaser S, Miller S et al (2008) Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol 38:1345–1349CrossRefGoogle Scholar
  19. 19.
    Yazici Z, Kline-Fath BM, Laor T, Tinkle BT (2010) Fetal MR imaging of Kniest dysplasia. Pediatr Radiol 40:348–352CrossRefGoogle Scholar
  20. 20.
    Teng SW, Guo WY, Sheu MH, Wang PH (2003) Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: a case report. Clin Imaging 27:55–58CrossRefGoogle Scholar
  21. 21.
    Griffiths PD, Bradburn M, Campbell MJ et al (2017) Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study. Lancet 389:538–546CrossRefGoogle Scholar
  22. 22.
    Kline-Fath B, Bahado-Singh R, Bulas D (2015) Fundamental and advanced fetal imaging: ultrasound and MRI. Wolters Kluwer, PhiladelphiaGoogle Scholar
  23. 23.
    Ngo AV, Thapa M, Otjen J, Kamps SE (2018) Skeletal dysplasias: radiologic approach with common and notable entities. Semin Musculoskelet Radiol 22:66–80CrossRefGoogle Scholar
  24. 24.
    Blaas HG, Vogt C, Eik-Nes SH (2012) Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. Ultrasound Obstet Gynecol 40:230–234CrossRefGoogle Scholar
  25. 25.
    Stark Z, McGillivray G, Sampson A et al (2015) Apert syndrome: temporal lobe abnormalities on fetal brain imaging. Prenat Diagn 35:179–182CrossRefGoogle Scholar
  26. 26.
    Manikkam SA, Chetcuti K, Howell KB et al (2018) Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol 39:380–384CrossRefGoogle Scholar
  27. 27.
    Pugash D, Lehman AM, Langlois S (2014) Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. Ultrasound Obstet Gynecol 44:365–368CrossRefGoogle Scholar
  28. 28.
    Bulas DI, Stern HJ, Rosenbaum KN et al (1994) Variable prenatal appearance of osteogenesis imperfecta. J Ultrasound Med 13:419–427CrossRefGoogle Scholar
  29. 29.
    Solopova A, Wisser J, Huisman TA (2008) Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. Fetal Diagn Ther 24:361–367CrossRefGoogle Scholar
  30. 30.
    Kocakoc E, Kiris A (2002) Achondrogenesis type II with normally developed extremities: a case report. Prenat Diagn 22:594–597CrossRefGoogle Scholar
  31. 31.
    Canki-Klain N, Stanescu V, Stanescu R et al (1992) Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? Ann Genet 35:129–133PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of RadiologyCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  2. 2.Department of RadiologyUniversity of Cincinnati College of MedicineCincinnatiUSA
  3. 3.Division of Human GeneticsCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  4. 4.Department of PediatricsUniversity of Cincinnati College of MedicineCincinnatiUSA

Personalised recommendations