Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Genetics in Medicine

Volumn 11, Issue 2, 2009, Pages 127-133

  Krakow, Deborah ^a   Lachman, Ralph S ^a   Rimoin, David L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Osteochondrodysplasias; Prenatal diagnosis; Skeletal dysplasias; Ultrasound

Indexed keywords

BONE DYSPLASIA; CHONDRODYSPLASIA; DELIVERY; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FETUS DISEASE; GENETIC DISORDER; GENETIC SERVICE; HEALTH CARE PERSONNEL; HUMAN; MEDICAL GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CARE; PRACTICE GUIDELINE; PREGNANCY; PRENATAL DIAGNOSIS; PRENATAL PERIOD; RADIOGRAPHY; REVIEW; RISK ASSESSMENT; THREE DIMENSIONAL ECHOCARDIOGRAPHY;

ANIMALS; FETUS; HUMANS; MUSCULOSKELETAL ABNORMALITIES; OSTEOCHONDRODYSPLASIAS; PRACTICE GUIDELINES AS TOPIC; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 62149098439     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181971ccb     Document Type: Review

References (29)

1. Superti-Furga A, Bonafé L, Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 2001;106:282-293.
2. Hall CM. International nosology and classification of constitutional disorders of bone (2001 ). Am J Med Genet 2002;113:65-77.
3. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007;143:1-18.
4. Lachman RS, editor. Taybi and Lachman's radiology of syndromes, metabolic disorders and skeletal dysplasias. Philadelphia: Mosby Elsevier, 2007.
5. Sutton VR, McAlister WH, Bertin TK, et al. Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet 2003;113:447-451.
6. Walter CA, Shaffer LG, Kaye CI, et al. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45, XY, idic(14)(p11). Am J Med Genet 1996;65:259-265.
7. Shanskc AL, Bernstein L, Herzog R. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature. Pediatrics 2007;120:e436-e441.
8. Savarirayan R. Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX). Pediatr Radiol 1999;29:322.
9. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Gene 1986;23:328-332.
10. Spranger JW, Brill PW, Poznaski A. editors. Bone dysplasias. New York: Oxford University Press, 2002.
11. Eames BF, de la Fuente L, Helms JA. Molecular ontogeny of the skeleton. Birth Defects Res C Embryo Today 2003;69:93-101.
12. Olsen BR, Reginato AM, Wang W. Bone development. Annu Rev Cell Dev Biol 2000;6:191-220.
13. Larson WJ, Sherman LS, Potter SS, Scott WJ. Human embryology. NewYork: Churchill Livingstone, 1993:281-310.
14. van Zalen-Sprock RM, Brons JT, van Vugt JM, van der Harten HJ, van Geijn HP. Ultrasonographic and radiologic visualization of the developing embryonic skeleton. Ultrasound Obstet Gynecol 1997;9:392-397.
15. Bahado-Singh RO, Raymond M. The 20-week scan: beyond biometry and anatomy. Clin Obstet Gynecol 2007;50:478-486.
16. Saltvedt S, Almström H, Kublickas M, Valentin L, Grunewald C. Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation-a randomised controlled trial in 39,572 pregnancies. BJOG 2006;113:664-674.
17. Campbell J, Henderson A, Campbell S. The fetal femur/foot length ratio: a new parameter to assess dysplastic limb reduction. Obstet Gynecol 1988;72: 181-184.
18. Yoshimura S, Masuzaki H, Gotoh H, Fukuda H, Ishimaru T. Ultrasonographic prediction of lethal pulmonary hypoplasia: comparison of eight different ultrasonographic parameters. Am J Obstet Gynecol 1996;175:477-483.
19. Rahemtullah A, McGillivray B, Wilson RD. Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gyneco 1997;177:864-869.
20. Parilla BV, Leeth EA, Kambien MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003;22:255-258.
21. Doray B, Favre R, Viville B, Langer B, Dreyfus M, Stoll C. Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann Genet 2000;43:163-169.
22. Gaffhey G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. Prenatal sonographic diagnosis of skeletal dysplasias-a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 1998;18:357-362.
23. Tretter AE, Saunders RC, Meyers CM, et al. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Gene 1998;75:518-522.
24. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB. Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996;61:49-58.
25. Sharony R, Browne C, Lachman RS, Rimoin DL. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol 1993;169:668-675.
26. Donnenfeld AE, Mennuti MT. Second trimester diagnosis of fetal skeletal dysplasias. Obstet Gynecol Surv 1987;42:199-217.
27. Krakow D, Williams J, Poehl M, Rimoin DL, Platt LD. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol 2003;21:467-472.
28. Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am J Med Genet 2001;104:140-146.
29. Allanson JE, Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol 1986;67:74-78.