Ultrasonographic screening for fetal rib number anomalies
DOI:
https://doi.org/10.12809/hkjgom.20.2.08Keywords:
Ribs, Ultrasonography, prenatalAbstract
Objective: To determine associations between fetal rib number anomalies detected on ultrasonography and chromosomal anomalies and other structural anomalies, and the outcome of affected pregnancies.
Methods: All cases of fetal rib number anomalies referred to the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital between 1 January 2016 and 31 December 2019 were reviewed. Fetal ribs were examined by static three-dimensional multiplanar or volume contrast ultrasonography. Genetic counselling was offered. The prenatal and postnatal records were reviewed.
Results: 21 fetuses with rib number anomalies were identified over 4 years. The most common presentation was unilateral or bilateral absence of the 12th thoracic rib (n=12, 57.1%), followed by the presence of lumbar rib (n=6, 28.6%) and the presence of cervical rib (n=3, 14.3%). Three (14.3%) fetuses were identified to have anomalies in other systems: unilateral absence of nasal bone (n=1) and minor vascular anomalies (n=2). One patient with multiple anomalies of the fetus underwent amniocentesis, and the chromosomal microarray analysis was normal. Postnatally, 13 babies had chest radiographs taken. Two were confirmed to have normal number of ribs. Prenatal and postnatal findings were consistent in 6 (46.2%) babies.
Conclusion: Fetal rib number anomalies were an isolated finding in most cases. The prognosis is good in the absence of other major anomalies. The accuracy of prenatal ultrasonography appears to be low. These findings do not support routine counting of fetal rib number in second-trimester ultrasonography.
References
Glass RB, Norton KI, Mitre SA, Kang E. Pediatric ribs: a spectrum of abnormalities. Radiographics 2002;22:87-104.
Riccabona M, Johnson D, Pretorius DH, Nelson TR. Three dimensional ultrasound: display modalities in the fetal spine and thorax. Eur J Radiol 1996;22:141-5.
Viora E, Sciarrone A, Bastonero S, Errante G, Botta G, Campogrande M. Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report. Ultrasound Obstet Gynecol 2002;19:88-91.
Esser T, Rogalla P, Sarioglu N, Kalache KD. Three-dimensional ultrasonographic demonstration of agenesis of the 12th rib in a fetus with trisomy 21. Ultrasound Obstet Gynecol 2006;27:714-5.
Khodair SA, Hassanen OA. Abnormalities of fetal rib number and associated fetal anomalies using three dimensional ultrasonography. Egypt J Radiol Nucl Med 2014;45:689-94.
Hershkovitz R: Prenatal diagnosis of isolated abnormal number of ribs. Ultrasound Obstet Gynecol 2008;32:506-9.
Kalelioglu IH, Gursoy Erzincan S, Erturk E, Has R. Prenatal incidence and clinical value of the absence of 12th ribs in a population in a setting of detailed second-trimester sonography. Fetal Diagn Ther 2019;46:368-75.
Wattanasirichaigoon D, Prasad C, Schneider G, Evans JA, Korf BR. Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet A 2003;122A:63-9.
Salomon LJ, Alfirevic Z, Berghella V, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2011;37:116-26.
Fliegel BE, Menezes RG. Anatomy, Thorax, Cervical Rib. StatPearls Publishing; 2020.
Ovel S. Sonography Exam Review: Physics, Abdomen, Obstetrics and Gynecology. 2nd ed. Mosby; 2014.
Mallo M, Vinagre T, Carapuco M. The road to the vertebral formula. Int J Dev Biol 2009;53:1469-81.
Li Z, Kawasumi M, Zhao B, Moisyadi S, Yang J. Transgenic over-expression of growth differentiation factor 11 propeptide in skeleton results in transformation of the seventh cervical vertebra into a thoracic vertebra. Mol Reprod Dev 2010;77:990-7.
Wellik DM, Capecchi MR. Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton. Science 2003;301:363-7.
Bots J, Wijnaendts LC, Delen S, Van Dongen S, Heikinheimo K, Galis F. Analysis of cervical ribs in a series of human fetuses. J Anat 2011;219:403-9.
Weston WJ. Genetically determined cervical ribs; a family study. Br J Radiol 1956;29:455-6.
Schapera J. Autosomal dominant inheritance of cervical ribs. Clin Genet 1987;31:386-8.
Gindes L, Benoit B, Pretorius DH, Achiron R. Abnormal number of fetal ribs on 3-dimensional ultrasonography: associated anomalies and outcomes in 75 fetuses. J Ultrasound Med 2008;27:1263-71.
Yanagihara T, Hata T. Three-dimensional sonographic visualization of fetal skeleton in the second trimester of pregnancy. Gynecol Obstet Invest 2000;49:12-6.
Galis F, Van Dooren TJ, Feuth JD, et al. Extreme selection in humans against homeotic transformations of cervical vertebrae. Evolution 2006;60:2643-54.
Edwards DK 3rd, Berry CC, Hilton SW. Trisomy 21 in newborn infants: chest radiographic diagnosis. Radiology 1988;167:317-8.
Achter A, Hager T, Fimmers R, Gembruch U, Muller AM. New osseous soft markers for trisomy 13, 18 and 21. Arch Gynecol Obstet 2016;294:251-9.
Ho NK. Eleven pairs of ribs of trisomy 18. J Pediatr 1989;114:902.
Chen CP, Shih JC, Huang MC, et al. Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. Taiwan J Obstet Gynecol 2012;51:139-42.
Basani L, Aepala R, Macha N. Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: a case report. Indian J Radiol Imaging 2018;28:456-9.
Ta RK, Saha K, Saha A, Ghosh S, Mitra M. Poland syndrome with absent ribs. Med J DY Patil Univ 2014;7:82-4.
Furtado LV, Thaker HM, Erickson LK, Shirts BH, Opitz JM. Cervical ribs are more prevalent in stillborn fetuses than in live-born infants and are strongly associated with fetal aneuploidy. Pediatr Dev Pathol 2011;14:431-7.
Keeling JW, Kjaer I. Cervical ribs: useful marker of monosomy X in fetal hydrops. Pediatr Dev Pathol 1999;2:119-23.
Nakagawa M, Hashimoto K, Ohira H, Hamanaka T, Ozaki M, Suehara N. Prenatal diagnosis of trisomy 9. Fetal Diagn Ther 2006;21:68-71.
Aly I, Chapman JR, Oskouian RJ, Loukas M, Tubbs RS. Lumbar ribs: a comprehensive review. Childs Nerv Syst 2016;32:781-5.
Garcia-Ramírez M, Toran N, Carrascosa A, Audi L. Down’s syndrome: altered chondrogenesis in fetal rib. Pediatr Res 1998;44:93-8.
Schumacher R, Mai A, Gutjahr P. Association of rib anomalies and malignancy in childhood. Eur J Pediatr 1992;151:432-4.
Merks JH, Smets AM, Van Rijn RR, et al. Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients. Eur J Med Genet 2005;48:113-29.
Li CK, Mang OW, Foo W. Epidemiology of paediatric cancer in Hong Kong, 1982 to 1991. Hong Kong Cancer Registry. Hong Kong Med J 1999;5:128-34.
Spadliński Ł, Cecot T, Majos A, et al. The epidemiological, morphological, and clinical aspects of the cervical ribs in humans. Biomed Res Int 2016;2016:8034613.
Archie MM, Gelabert HA. Endovascular reconstruction of subclavian artery aneurysms in patients with arterial thoracic outlet syndrome. Ann Vasc Surg 2019;57:10-15.
Gruss JD, Geissler C. Aneurysms of the subclavian artery in thoracic outlet syndrome [in German]. Zentralbl Chir 1997;122:730-4.
Palmer OP, Weaver FA. Bilateral cervical ribs causing cerebellar stroke and arterial thoracic outlet syndrome: a case report and review of the literature. Ann Vasc Surg 2015;29:840 e1-4.
Kataria R, Sharma A, Srivastava T, Bagaria H, Sharma A. Cervical rib, a rare cause of recurrent stroke in the young: case report. Neurologist 2012;18:321-3.
Chengetanai S, Nchabeleng EK, Bacci N, Billings BK, Mazengenya P. Supernumerary lumbar ribs: a rare occurrence on an adult African male skeleton. Anat Cell Biol 2017;50:155-8.
Lee JH, Lee KJ, Ki M, Kim M, Doo AR, Son JS. The abnormality of the number of ribs misleading incorrect vertebral segment identification during lumbar intervention: two cases report. Anesth Pain Med 2019;14:331-4.
Rickham PP. Lung hernia secondary to congenital absence of ribs. Arch Dis Child 1959;34:14-7.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2020 Hong Kong Journal of Gynaecology, Obstetrics and Midwifery
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
The Journal has a fully Open Access policy and publishes all articles under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) licence. For any use other than that permitted by this license, written permission must be obtained from the Journal.