{"id":2322,"date":"2020-07-05T14:27:58","date_gmt":"2020-07-05T14:27:58","guid":{"rendered":"http:\/\/www.ijmhr.org\/IntJAnatRes\/?page_id=2322"},"modified":"2020-07-06T02:53:20","modified_gmt":"2020-07-06T02:53:20","slug":"ijar-2020-175","status":"publish","type":"page","link":"https:\/\/www.ijmhr.org\/IntJAnatRes\/ijar-2020-175","title":{"rendered":"IJAR.2020.175"},"content":{"rendered":"<div class=\"su-row\"><div class=\"su-column su-column-size-1-2\"><div class=\"su-column-inner su-u-clearfix su-u-trim\"><div class=\"su-button-center\"><a href=\"https:\/\/www.ijmhr.org\/ijar.8.3\/IJAR.2020.175.pdf\" class=\"su-button su-button-style-default\" style=\"color:#FFFFFF;background-color:#6b0e00;border-color:#560c00;border-radius:5px;-moz-border-radius:5px;-webkit-border-radius:5px\" target=\"_self\"><span style=\"color:#FFFFFF;padding:6px 16px;font-size:13px;line-height:20px;border-color:#98574d;border-radius:5px;-moz-border-radius:5px;-webkit-border-radius:5px;text-shadow:none;-moz-text-shadow:none;-webkit-text-shadow:none\"><i class=\"sui sui-cloud-download\" style=\"font-size:13px;color:#FFFFFF\"><\/i> DOWNLOAD PDF<\/span><\/a><\/div><\/div><\/div> <div class=\"su-column su-column-size-1-2\"><div class=\"su-column-inner su-u-clearfix su-u-trim\"><div class=\"su-button-center\"><a href=\"https:\/\/ijmhr.org\/ijar-vol-8-3.htm\" class=\"su-button su-button-style-default\" style=\"color:#FFFFFF;background-color:#6b0e00;border-color:#560c00;border-radius:5px;-moz-border-radius:5px;-webkit-border-radius:5px\" target=\"_self\"><span style=\"color:#FFFFFF;padding:6px 16px;font-size:13px;line-height:20px;border-color:#98574d;border-radius:5px;-moz-border-radius:5px;-webkit-border-radius:5px;text-shadow:none;-moz-text-shadow:none;-webkit-text-shadow:none\"><i class=\"sui sui-book\" style=\"font-size:13px;color:#FFFFFF\"><\/i> Table of Contents<\/span><\/a><\/div><\/div><\/div><\/div>\n<h3 style=\"text-align: justify;\"><strong>Type of Article:<\/strong>\u00a0\u00a0Original Research<\/h3>\n<h3 style=\"text-align: justify;\"><strong>Volume 8; Issue 3.1 (July 2020)<\/strong><\/h3>\n<h3 style=\"text-align: justify;\"><strong>Page No.:<\/strong>\u00a07621-7632<\/h3>\n<h3 style=\"text-align: justify;\"><strong>DOI:\u00a0<\/strong>https:\/\/dx.doi.org\/10.16965\/ijar.2020.175<\/h3>\n<h3 style=\"text-align: justify;\">FETAL SKELETAL GROWTH PATTERN ANALYSIS IN FETUSES WITH SKELETAL DYSPLASIA\u2013 AN ULTRASONOGRAPHY STUDY IN WESTERN INDIAN POPULATION<\/h3>\n<p style=\"text-align: justify;\"><strong>Rakesh Kumar Jha <sup>1 <\/sup>, Charmode Sundip Hemant *<sup>2<\/sup>.<\/strong><\/p>\n<p style=\"text-align: justify;\"><sup>1<\/sup> Department of Anatomy, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India.<\/p>\n<p style=\"text-align: justify;\"><sup>*2 <\/sup>Department of Anatomy, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India.<\/p>\n<p style=\"text-align: justify;\"><strong>Corresponding author:<\/strong> Dr. Charmode Sundip Hemant, Department of Anatomy, All India Institute of Medical Sciences, Kunraghat, Gorakhpur, Uttar Pradesh, India -273008\u00a0<strong>E-Mail:<\/strong> sundip.charmode@yahoo.com<\/p>\n<h3 style=\"text-align: justify;\">ABSTRACT<\/h3>\n<p style=\"text-align: justify;\"><strong>Background:\u00a0<\/strong>In developing countries like India, several genetic, environmental factors and diverse\u00a0cultural practices affect the normal growth and development of human embryo resulting in congenital malformations namely skeletal dysplasia. This article aims at analyzing the fetal skeletal growth pattern followed by its correlation to understand prenatal diagnosis of\u00a0 skeletal dysplasia.<\/p>\n<p style=\"text-align: justify;\"><strong>Materials and Methods:\u00a0<\/strong>Two studies, conducted by the authors at different places in western India population have been \u00a0correlated. Primary prospective study, was\u00a0conducted among\u00a0500 antenatal women coming for routine antenatal check-up during from 1<sup>st<\/sup>\u00a0July 2015 to 31<sup>st<\/sup>\u00a0May 2018. Routine fetal parameters like biparietal diameter, gestational sac, HC,\u00a0AC, TC, FL along with all the other fetal long bones were measured using 2D\/3D ultrasonography. Second retrospective study, was conducted on new-borns with congenital malformations in the same population.\u200b<\/p>\n<p style=\"text-align: justify;\"><strong>Result:\u00a0<\/strong>Out\u00a0of the total 10,114 deliveries conducted during the study\u00a0period, 182 new-borns\u00a0 had congenital malformations, out of which 23 cases had\u00a0skeletal dysplasia. Fetal skeletal growth pattern analysis done was observed to be comparable with other populations residing in different parts\u00a0of India and also abroad.\u00a0\u00a0\u00a0Thanatophoric dysplasia was the most common type of skeletal dysplasia. Prenatal diagnosis of skeletal dysplasia\u00a0was done correctly in 75% of cases. Peak\u00a0 of diagnoses were between 15 and 19 weeks of\u00a0gestational age.<\/p>\n<p style=\"text-align: justify;\"><strong>Conclusions:\u00a0<\/strong>Fetal growth pattern\u00a0analysis observed in western Indian population is similar to that observed in other groups of India and abroad.\u00a0In majority of cases of thanatophoric dysplasia, prenatal ultrasound examination was diagnostic, providing a correct diagnosis using ultrasonography as the sole modality.<\/p>\n<p style=\"text-align: justify;\"><strong>Key words:<\/strong> Skeletal Dysplasia, Prenatal Diagnosis, Fetal Growth Analysis, Thanatophoric\u00a0 Dysplasia.<\/p>\n<p style=\"text-align: justify;\"><strong>REFERENCES<\/strong><\/p>\n<ol>\n<li style=\"text-align: justify;\">Barkova E, Mohan U, Chitayat D, Keating S, Toi A, Frank J, Frank R, Tomlinson G, Glanc P. Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. Clin Genet. 2015;87:330-7. <a href=\"https:\/\/doi.org\/10.1111\/cge.12434\">https:\/\/doi.org\/10.1111\/cge.12434<\/a> PMid:24863959<\/li>\n<li style=\"text-align: justify;\">Rawhani R, Abdellatif A, Abushama M, Ahmed B. Antenatal diagnosis of fetal skeletal malformation. Donald Sch J Ultrasound Obstet. Gynecol. 2018;12:116-23. https:\/\/doi.org\/10.5005\/jp-journals-10009-1561<\/li>\n<li style=\"text-align: justify;\">Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision.Am J Med Genet A 2007;143:1-18. <a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.31483\">https:\/\/doi.org\/10.1002\/ajmg.a.31483<\/a> PMid:17120245<\/li>\n<li style=\"text-align: justify;\">Deborah Krakow, Ralph S. Lachman, David L. Rimoin. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 February; 11(2):127-133. <a href=\"https:\/\/doi.org\/10.1097\/GIM.0b013e3181971ccb\">https:\/\/doi.org\/10.1097\/GIM.0b013e3181971ccb<\/a>\u00a0PMid:19265753 PMCid:PMC2832320<\/li>\n<li style=\"text-align: justify;\">Rajan R., Girja B. and Vasantha R. Ultrasound determination of fetal growth parameters and gestational age. Infertility committee of the federation of Obs. and Gync. Society,1990;67:67-89.<\/li>\n<li style=\"text-align: justify;\">Westerway S. C., Estimating fetal weight for best clinical outcome, Australian Journal of Ultrasound in Medicine, 2012;15(1):13-17. <a href=\"https:\/\/doi.org\/10.1002\/j.2205-0140.2012.tb00136.x\">https:\/\/doi.org\/10.1002\/j.2205-0140.2012.tb00136.x<\/a> PMid:28191133 PMCid:PMC5025123<\/li>\n<li style=\"text-align: justify;\">Ashrafganjooei T., Naderi T., Eshrati B., and Babapoor N., Accuracy of ultrasound, clinical and maternal estimates of birth weight in term women, Eastern Mediterranean Health Journal, 2010;16(3):313-317. <a href=\"https:\/\/doi.org\/10.26719\/2010.16.3.313\">https:\/\/doi.org\/10.26719\/2010.16.3.313<\/a> PMid:20795447<\/li>\n<li style=\"text-align: justify;\">American Institute of Ultrasound in Medicine. AIUM 2018. Practice Parameter for the Performance of Standard Diagnostic Obstetric Ultrasound examinations. J Ultrasound Med 2018; 9999:1-12.<\/li>\n<li style=\"text-align: justify;\">Helman LM, Kobayashi M, Fillisti L, Lavenhar M. Growth and development of the human fetus prior to the twentieth week of gestation. Am J Obstet Gynecol.1969;103: 789-900. <a href=\"https:\/\/doi.org\/10.1016\/0002-9378(69)90575-4\">https:\/\/doi.org\/10.1016\/0002-9378(69)90575-4<\/a><\/li>\n<li style=\"text-align: justify;\">Robinson HP, Fleming JE.A critical evaluation of sonar crown rump length measurements. Br J Obstet Gynaecol. 1975;82:702- 710. <a href=\"https:\/\/doi.org\/10.1111\/j.1471-0528.1975.tb00710.x\">https:\/\/doi.org\/10.1111\/j.1471-0528.1975.tb00710.x<\/a> PMid:1182090<\/li>\n<li style=\"text-align: justify;\">Mukherjee B. and Mitra S. C. et al. Fetal biparietal diameters in the second half of gestational period determined clinically and ultrasonically. J. of Obs. And Gynaec. of India, 1986,XXXVI\/5;764-766.<\/li>\n<li style=\"text-align: justify;\">Ghamande S. A. and Varawalla N. V. et al. ,Role of ultrasound to determine fetal gestational age. Indian Journal of Obs. And Gync. 1989;13:605.<\/li>\n<li style=\"text-align: justify;\">Eberhard M., Mi Sook K. K. and Stephanie P. Ultrasonic mensuration of fetal limb bones in the second and third trimesters. Journal of clinical ultrasound, 1987;15\/3:175-183. <a href=\"https:\/\/doi.org\/10.1002\/jcu.1870150305\">https:\/\/doi.org\/10.1002\/jcu.1870150305<\/a> PMid:3134412<\/li>\n<li style=\"text-align: justify;\">Uttarilli, H Shah, A Shukla, and KM Girisha. A review of skeletal dysplasia research in India. J Postgrad Med. 2018 Apr-Jun; 64(2):98-103. <a href=\"https:\/\/doi.org\/10.4103\/jpgm.JPGM_527_17\">https:\/\/doi.org\/10.4103\/jpgm.JPGM_527_17<\/a> PMid:29692401 PMCid:PMC5954821<\/li>\n<li style=\"text-align: justify;\">Li SL. Prenatal ultrasound diagnosis and prognosis of fetal limb deformities. Chin J Practic Gynecol Obstet. 2007;23:399-400.<\/li>\n<li style=\"text-align: justify;\">Milks KS, Hill LM, Hosseinzadeh K. Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 2017;47:134-45. <a href=\"https:\/\/doi.org\/10.1007\/s00247-016-3725-5\">https:\/\/doi.org\/10.1007\/s00247-016-3725-5<\/a> PMid:27904917<\/li>\n<li style=\"text-align: justify;\">Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A:943-68. <a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.33909\">https:\/\/doi.org\/10.1002\/ajmg.a.33909<\/a> PMid:21438135 PMCid:PMC3166781<\/li>\n<li style=\"text-align: justify;\">Sharony R, Browne C, Lachman RS, Rimoin DL. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol 1993; 169: 668-675. https:\/\/doi.org\/10.1016\/0002-9378(93)90641-U<\/li>\n<li style=\"text-align: justify;\">Goncalves L, Jeanty P. Fetal biometry of skeletal dysplasias: A multicentric study. J Ultrasound Med 1994; 13: 977-985. https:\/\/doi.org\/10.7863\/jum.1994.13.12.977 https:\/\/doi.org\/10.7863\/jum.1994.13.10.767<\/li>\n<li style=\"text-align: justify;\">Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. Prenatal sonographic diagnosis of skeletal dysplasias &#8211; a report of the diagnostic and prognostic accuracy in 35 cases.Prenat Diagn 1998; 18: 357-362. https:\/\/doi.org\/10.1002\/(SICI)1097-0223(199804)18:4&lt;357::AID-PD276&gt;3.0.CO;2-0<\/li>\n<li style=\"text-align: justify;\">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. https:\/\/doi.org\/10.1016\/S0003-3995(00)01026-1<\/li>\n<li style=\"text-align: justify;\">Tretter AE, Saunders RC, Meyers CM, Dungan JS, Grumbach K, Sun CC, Campbell AB, Wulfsberg EA. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 1998; 75: 518-522. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19980217)75:5&lt;518::AID-AJMG12&gt;3.0.CO;2-N<\/li>\n<li style=\"text-align: justify;\">Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003; 22: 255-258. <a href=\"https:\/\/doi.org\/10.7863\/jum.2003.22.3.255\">https:\/\/doi.org\/10.7863\/jum.2003.22.3.255<\/a> PMid:12636325<\/li>\n<li style=\"text-align: justify;\">Schramm, K. P. Gloning, S. Minderer, C. Daumer-Haas, K. Ho\u00a8 Rtnagel, A. Nerlich and B. Tutschek. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 2009; 34: 160-170. <a href=\"https:\/\/doi.org\/10.1002\/uog.6359\">https:\/\/doi.org\/10.1002\/uog.6359<\/a> PMid:19548204<\/li>\n<li style=\"text-align: justify;\">Rousseau F., el Ghouzzi V., Delezoide A.L., Legai-Mallet L., Le Merrer M., Munnich A., Bonaventure J. Missense FGFR3 mutations create cysteine residues in thanatophoryc dwarfism type I (TDI). Hum. Mol. Genet. 1996; 5:509-512. <a href=\"https:\/\/doi.org\/10.1093\/hmg\/5.4.509\">https:\/\/doi.org\/10.1093\/hmg\/5.4.509<\/a> PMid:8845844<\/li>\n<li style=\"text-align: justify;\">Passos-Bueno M.R., Wilcox W.R., Jabs E.W., Sertie A.L., Alonso L.G., Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum. Mut. 1999;14:115-125. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(1999)14:2&lt;115::AID-HUMU3&gt;3.0.CO;2-2<\/li>\n<li style=\"text-align: justify;\">Rousseau A., Saugier P., Le Merrer M., Munnich A., Delezoide A.L., Maroteaux P ., Bonaventure J., Narcy F., Sanak M. Stop codon FGFR3 mutations in thanatophoryc dwarfism type1. Nat. Genet. 1995;10:11- 12. <a href=\"https:\/\/doi.org\/10.1038\/ng0595-11\">https:\/\/doi.org\/10.1038\/ng0595-11<\/a> PMid:7647778<\/li>\n<li style=\"text-align: justify;\">P. Chen, S.R. Chern, J.C. Shih, W. Wang, L.F. Yeh, T.Y. Chang, et al. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn, 2001;21:89-95. https:\/\/doi.org\/10.1002\/1097-0223(200102)21:2&lt;89::AID-PD21&gt;3.0.CO;2-9<\/li>\n<li style=\"text-align: justify;\">R. Wilcox, P.L. Tavormina, D. Krakow, H. Kitoh, R.S. Lachman, J.J.Wasmuth, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet, 1998;78:274-281. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19980707)78:3&lt;274::AID-AJMG14&gt;3.0.CO;2-C<\/li>\n<li style=\"text-align: justify;\">Castori, S. Morlino, F.C. Radio, C. De Bernardo, P. Grammatico. The &#8220;old theme&#8221; of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with (&#8220;San Diego&#8221; variant) and without ragged metaphyses due to the same FGFR3 mutation. Am J Med Genet A 2013;161a:2675-2677. <a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.36131\">https:\/\/doi.org\/10.1002\/ajmg.a.36131<\/a> PMid:24038754<\/li>\n<\/ol>\n<p style=\"text-align: justify;\">\n\t\t\t <div class=\"promo1\" style=\"background-color:#f7f7f7; border-color: #6b0e00 #e8e6e6 #e8e6e6;\">\n             \t <span style=\"color: #800000;\"><strong>Cite this article:<\/strong><\/span> Rakesh Kumar Jha, Charmode Sundip Hemant. FETAL SKELETAL GROWTH PATTERN ANALYSIS IN FETUSES WITH SKELETAL DYSPLASIA\u2013 AN ULTRASONOGRAPHY STUDY IN WESTERN INDIAN POPULATION. Int J Anat Res 2020;8(3.1):7621-7632.\u00a0<strong>DOI:\u00a0<\/strong>10.16965\/ijar.2020.175\u00a0 \n             <\/div>\t\n\t\t\n","protected":false},"excerpt":{"rendered":"<p>Type of Article:\u00a0\u00a0Original Research Volume 8; Issue 3.1 (July 2020) Page No.:\u00a07621-7632 DOI:\u00a0https:\/\/dx.doi.org\/10.16965\/ijar.2020.175 FETAL SKELETAL GROWTH PATTERN ANALYSIS IN FETUSES WITH SKELETAL DYSPLASIA\u2013 AN ULTRASONOGRAPHY STUDY IN WESTERN INDIAN POPULATION Rakesh Kumar Jha 1 , Charmode Sundip Hemant *2. 1 Department of Anatomy, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India. *2 Department<br \/><a class=\"moretag\" href=\"https:\/\/www.ijmhr.org\/IntJAnatRes\/ijar-2020-175\">+ Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/2322"}],"collection":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/comments?post=2322"}],"version-history":[{"count":2,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/2322\/revisions"}],"predecessor-version":[{"id":2328,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/2322\/revisions\/2328"}],"wp:attachment":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/media?parent=2322"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}