Fetal Ultrasonography in the prenatal diagnosis during the first trimester of pregnancy, results of a six-year study
Keywords:
GENETICS, ULTRASONOGRAPHY, CONGENITAL ABNORMALITIES, PRENATAL DIAGNOSISAbstract
Background: ultrasonography is the main tool for the diagnosis of developmental disorders, as it detects congenital anomalies before birth.
Objective: to describe the prenatal diagnosis of the first trimester of pregnancy by ultrasonography, performed to pregnant women of Las Tunas, from 2011 through 2016.
Methods: a descriptive and retrospective study of the prenatal diagnosis by ultrasonography during the first trimester of pregnancy was carried out at the provincial department of genetics of "Mártires de Las Tunas" Provincial Pediatric Hospital, during the period herein mentioned. The register of congenital malformations was used and the following variables were analyzed: assessed pregnant women, diagnosed congenital anomalies, system classification of the congenital anomalies and genetic markers.
Results: 74 congenital anomalies of the first trimester were reported in the six studied years, representing 0,2 % of the assessed pregnant women. The adjusted prevalence of these first-trimester defects was 2,0 per 1000 live births. Neural tube defects predominated with 28 cases for 37,8 %. Nuchal translucency (NT) was the genetic marker mostly observed with 76 out of 102 total cases for 74,5 %, followed by combined markers, 24 cases for 23,5 %.
Conclusions: first-trimester ultrasonography permitted to diagnose developmental congenital defects and genetic markers, useful in the diagnosis of chromosomal anomalies, fetal malformations and genetic syndromes.Downloads
References
Bescós Santana EM. Prevalencia, incidencia y diagnóstico prenatal de defectos congénitos en el área sanitaria III de Zaragoza [tesis doctoral]. 2010. Repositorio de la Universidad de Zaragoza, Zaguan [citado 10 de marzo 2017]. Disponible en: http://zaguan.unizar.es/collecction/tesis.
Jaddoe V W V, de Jonge L L, Hofman A, Franco O H, Steegers E A P, Gaillard R. First trimester fetal growth restriction and cardiovascular risk factors in school age children: population based cohort study. BMJ [revista en internet]. 2014 [citado 10 de marzo 2017]; 348: 14-23. Disponible en: http://www.bmj. com/content/348/bmj.g14.
Nazario Redondo C, Ventura Laveriano J, Flores Molina É, Ventura W. La importancia de la ecografía a las 11+0 a 13+6 semana de embarazo: actualización. An. Fac. med [revista en internet]. 2011 [citado 10 de marzo 2017]; 72(3): 211-215. Disponible en: http://scielo.org.pe/scielo.php?script=sci_arttext& pid=S1025-55832011000300010&lng=es.
Miranda Rosales F, Mirón Folgoso C, Balaguer Burón A, Iglesias Vidal E, Pérez Gonzáles I, Cento Pernas D. Pesquisaje ultrasonográfico de marcadores genéticos y malformaciones congénitas mayores. AMC [revista en internet]. 2012, Jun [citado 10 de marzo 2017]; 16(3): 295-309. Disponible en: http://scielo .sld.cu/scielo.php?script=sci_arttext&pid=S1025-02552012000300007&lng=es.
García Borrego A, Pimentel Benítez H, Medina Alí F E, Trull Martínez F A. Actualización en marcadores genéticos ultrasonográficos del 1º trimestre del embarazo. Ciencias Holguín [revista en internet]. 2010 [citado 10 de marzo 2017]; 16(1): 1-8. Disponible en: http://www.redalyc.org/articulo.oa?id=18151791 9010.
Romero Portelles Ld, Orive Rodríguez NM, Reyes Reyes E, Llanes Machado ER, Peña Mancebo O. Caracterización de los defectos del tubo neural en embarazadas de Las Tunas, estudio de cuatro años. Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta [revista en internet]. 2016, Jun [citado 10 de marzo 2017]; 41(5). Disponible en: http://revzoilomarinello.sld.cu/index.php/zmv/article/view/708.
Uscanga Carrasco H, Goméz Gómez M, Sánchez García L, Cruz Reynoso L, Santos Vera I. Hidropesía fetal no inmune. Informe de un caso. Bol. Med. Hosp. Infant. Mex [revista en internet]. 2009 [citado 10 de marzo 2017]; 66(6): 537-544 Disponible en: http://scielo.org.mex/scielo.php?script=sci_arttext&pid =S1665-11462009000600008&lng=es.
Díaz C, Copado, Muñoz G, Muñoz H. Malformaciones de la pared abdominal. Rev. Med. Clin. Condes [revista en internet]. 2016 [citado 10 de marzo 2017]; 27(4): 499-508. Disponible en: http://www. sciencedirect.com/science?_ob=ArticleListURL&_method=list&_ArticleListID=1047194734&_sort=r&_st=13&view=c&md5=d4250bc4bdfaf70eed8daf06775f90b6&searchtype=a.
González Valdez V, Ofarrill Sánchez M, González Ricardo Y. Onfalocele gigante roto. Presentación de un caso. Medisur [revista en internet]. 2013 [citado 10 de marzo 2017]; 11(5): 552-556. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-897X2013000500011&lng=es.
Montero FJ, Simpson LL, Brady PC, Miller RS. Fetal omphalocele ratios predict outcomes in prenatally diagnosed omphalocele. Am J Obstet Gynecol [revista en internet]. 2011 [citado 10 de marzo 2017]; 205(3): 284. Disponible en: http://www.sciencedirect.com/science/article/pii/S0002937811007873.
Oliva R JA. Malformaciones genitourinarias. En: Ultrasonografía diagnóstica fetal, obstétrica y ginecológica. La Habana: Editorial Ciencias Médicas; 2009. p. 167-187.
Whitworth M, Bricker L, Mullan C. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev [revista en internet]. 2015 [citado 10 de marzo 2017]; (7). Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/26171896.
Pérez-Pedregosa J, Martínez M T, del Pino SR S, Gutiérrez-Larraya F, Medina L, Bueso T, Cabrillo E. Diagnóstico prenatal y evolución en fetos con agenesia del ductus venoso. Rev. Chil. Obstet. Ginecol [revista en internet]. 2014 [citado 10 de marzo 2017]; 79(3): 173-181. Disponible en: http://scielo.cl/scielo.php?script=sci_arttext&pid=S0717-75262014000300005&lng=es.
Takita H, Hasegawa J, Arakaki T, Hamada S, Tokunaka M, Nakamura M, Sekizawa A. Outcomes in the absence of the ductus venosus diagnosed in the first trimester. J Matern Fetal Neonatal Med [revista en internet]. 2017 [citado 10 de marzo 2017]; 11: 1-19. Disponible en: http://pesquisa.bvsalud.org/portal/ resource/pt/mdl-28076990.
Cnota W, Włoch A, Czuba B, Wójtowicz D, Sodowski K. Agenesis of the ductus venosus--an irrelevant anomaly or a severe clinical problem? Ginekol Pol [revista en internet]. 2013 [citado 10 de marzo 2017]; 84(8): 676-81. Disponible en: http://pesquisa.bvsalud.org/portal/resource/pt/mdl-24191500.
Chen FC, Gerhardt J, Entezami M, Chaoui R, Henrich W. Detection of Spina Bifida by First Trimester Screening-Results of the Prospective Multicenter Berlin IT-Study. Ultraschall Med [revista en internet]. 2015 [citado 10 de marzo 2017]; 14. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25876171.
Rao R, Valderramos S, Silverman N, Han C, Platt L. The value of the first trimester ultrasound in the era of cell free DNA screening. Prenat Diagn [revista en internet]. 2016 [citado 10 de marzo 2017]; 36(13). Disponible en: http://pesquisa.bvsalud.org/portal/resource/pt/mdl-27813114.
Downloads
Published
How to Cite
Issue
Section
License
This journal provides free and immediate access to its content under the principle that making research freely available to the public supports a greater exchange of global knowledge. This means that the authors transfer the copyright to the journal, so that copies and distribution of the contents can be made by any means, as long as the authors' acknowledgment is maintained. These terms are a reflection that the journal assumes copyright under Creative Commons licenses, specifically under a Creative Commons Attribution 4.0 International license.
Registration and submission of articles to the journal is free. The processing, including review, editing and publication, is completely free of charge.