Prenatal diagnosis through amniocentesis in pregnant women from Cúcuta, North Santander (january 2018 to december 2023)
DOI:
https://doi.org/10.24054/cbs.v2i4.3296Keywords:
Amniocentesis, Prenatal Diagnosis, Chromosomal Anomalies, Aneuploidy, TrisomyAbstract
Prenatal diagnosis is the fundamental pillar to reduce fetal complications, which has promoted advancements in diagnostic methods and decreased fetal risk. In Colombia, the availability of non-invasive techniques is limited, making amniocentesis the primary method for determining genetic disorders, where the risks during the procedure are minimal due to the technique and operator factor. The objective of this study was to determine the prevalence of diagnostic amniocentesis in the city of Cúcuta, Norte de Santander, between 2018 and 2023, using a quantitative approach with a descriptive, cross-sectional methodology. During this period, 124 amniocenteses were performed on pregnant women aged between 16 and 46 years, of which 12.1% presented chromosomal abnormalities in the report, with Patau syndrome and Edwards syndrome being the most frequent. This study highlighted the importance of fetal findings through ultrasound as the main indication for amniocentesis, and early diagnosis leads to a reduction in fetal and maternal complications and also allows for preparation for the arrival of a child with a chromosomal alteration.
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Mazza V, Pati M, Bertucci E, Cani C, Latella S, Gargano G, Percesepe A, Volpe A. Second trimester amniocentesis is not a risk factor for very low birth weight and extremely low birth weight. [Internet]. 2011. Disponible en: https://doi.org/10.5402/2011/313206
M. Cruz-Lemini, M. Parra-Saavedra, V. Borobio, et.al. How to perform an amniocentesis. Ultrasound in obstetrics & Ginecology. 2014; Vol. 44: Pages 727-731.https://doi.org/10.1002/uog.14680
MOLINA-GIRALDO, Saulo et al . Consecuencias y complicaciones de la amniocentesis. Experiencia de dos centros latinoamericanos de medicina materno fetal. Ginecol. obstet. Méx., Ciudad de México , v. 86, n. 4, p. 239-246, 2018 . Disponible en <http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0300-90412018000400239&lng=es&nrm=iso>
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. (2016). Obstetrics and gynecology, 127(5), e108–e122. https://doi.org/10.1097/AOG.0000000000001405.
Jindal A, Sharma M, Karena ZV, Chaudhary C. Amniocentesis. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32644673.
Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet. 1986;1(8493):1287-93. doi: 10.1016/s0140-6736(86)91218-3.
Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z, McGillivray G. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol [Internet]. 2016;48(2):256-68. Disponible en: https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.15945
Grupo de trabajo de la Sociedad Española de Ginecología y Obstetricia (SEGO). Guía de práctica clínica: Diagnóstico prenatal de los defectos congénitos. Cribado de anomalías cromosómicas. [Internet]. 2013. Disponible en: http://dx.doi.org/10.1016/j.diapre.2012.06.013.
Martinez Fonseca Y, Fonseca González R, Diaz Guerra Y, Otero Naranjo S, Espinosa Álvarez D. Alteraciones citogenéticas en gestantes con edad avanzada. Granma – Cuba (2016-2018). Multimed 2019; 23:1216-31
Durán P, Liascovich R, Barbero P, Bidondo MP, Groisman B, Serruya S, et al. Sistemas de vigilancia de anomalías congénitas en América Latina y el Caribe: presente y futuro. Rev Panam Salud Publica [Internet]. 2019;43:1. Disponible en: http://dx.doi.org/10.26633/rpsp.2019.44
Khoshnood B, Blondel B, Bréart G, Lee K-S, Pryde P, Schoendorf K. Comparison of the use of amniocentesis in two countries with different policies for prenatal testing: the case of France and the United States: USe of amniocentesis with different policies for prenatal testing. prenat Diagn [Internet]. 2005;25(1):14–9. Disponible en: http://dx.doi.org/10.1002/pd.1075
CASTRO VOLIO, Isabel et al. Diagnóstico citogenético prenatal mediante amniocentesis durante los trimestres II y III de gestación en Costa Rica. Rev. biol. trop , San José, v. 49, n. 3-4, pág. 1227-1236, diciembre de 2001. Disponible en <http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442001000300044&lng=en&nrm=iso>.
Grether-González P, Cámara-Polanco V, Ulloa-Avilés V, et al. Diagnóstico prenatal por amniocentesis. Experiencia clínica y citogenética en 1,500 casos. Ginecol Obstet Mex. 2010;78(09):493-503.
Zeynep O, Tülay Özlü, Hasan F, Osman Özyurt, Mehmet A. Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: Report of 6124 cases. The journal of obstetrics and gynaecology research; 2014. Vol. 40 Núm. 1, Pages 139-146. https://doi.org/10.1111/jog.12144
Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR. Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. Korean J Lab Med. 2008 Oct;28(5):378-85. doi: 10.3343/kjlm.2008.28.5.378. PMID: 18971619.
American College of Obstetricians and Gynecologists’ Committee on Clinical Consensus-Obstetrics, Gantt A; Society for Maternal-Fetal Medicine, et al. Obstetric Care Consensus #11, Pregnancy at age 35 years or older. Am J Obstet Gynecol. 2023;228(3):B25-B40. doi:10.1016/j.ajog.2022.07.022.
Ekin, A., Gezer, C., Taner, C. E., Ozeren, M., Avci, M. E., Uyar, I., & Ertas, I. E. (2014). Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology, 34(7), 571–575. https://doi.org/10.3109/01443615.2014.919577.
San Román Muñoz M, Herranz Fernández JL, Tejerina Puente A, Arteaga Manjón-Cabeza R, López Grondona F. Trisomía 9p. An Pediatr (Barc) [Internet]. 2004;61(4). Disponible en: https://www.analesdepediatria.org/es-trisomia-9p-articulo-S1695403304783988
Francisco J. Plaza, Montserrat Uriel, Marina Cañamares, Jacky Calleja, Dan Diego Álvarez, Marta Rodríguez de Alba, Carmen Ramos. Diagnóstico prenatal de trisomía 9 en mosaico en el segundo trimestre de la gestación. Progresos de Obstetricia y Ginecología, Volume 51, Issue 10, 2008, Pages 635-640, ISSN 0304-5013.
Pazmino Miranda, A. M., Carvajal-García, M. F., Velastegui Ayala, E. M., Molina-Cárdenas, A. C., Reinoso-Recalde, D. I., & Ghía-Coronado, C. A. (2023). Trisomía 9: primer caso clínico neonatal reportado en el Ecuador . Pediatría, 56(1), e429. https://doi.org/10.14295/rp.v56i1.429.
Li H, Li Y, Zhao R, Zhang Y. Cytogenetic Analysis of Amniotic Fluid Cells in 4206 Cases of High-Risk Pregnant Women. Iran J Public Health. 2019 Jan;48(1):126-131. PMID: 30847320; PMCID: PMC6401577.
Fandiño-Losada A, Lucumí-Villegas B, Ramírez-Cheyne J, Isaza-de Lourido C, Saldarriaga W. Valor predictivo positivo del diagnóstico prenatal invasivo para alteraciones cromosómicas. Rev Fac Med. 2018;66(1):19-24. doi: 10.15446/revfacmed.v66n1.62098.
Akbari NA, Tooba K. Analyzing indications of amniocentesis and positive predictive value (PPV) of cytogenetic findings of chromosomal abnormalities. Rev Latinoam Hipertens [Internet]. 2019;14(3):[Páginas]. Disponible en: https://www.redalyc.org/articulo.oa?id=170263176011
Ministerio de Salud y Protección Social de Colombia. Resolución 3280 de 2018 [Internet]. Bogotá: Ministerio de Salud y Protección Social; 2018 [citado 2024 May 8]. Disponible en: https://www.minsalud.gov.co/sites/rid/Lists/BibliotecaDigital/RIDE/DE/DIJ/resolucion-3280-de-2018.pdf?ID=17974
Golshahi F, Khaleghinezhad Kh, Sahebdel B, Saedi N, Salari Z. The Indications of Amniocentesis for the Diagnosis of Aneuploidy among Pregnant Women; 2010-2019. Journal of Midwifery and Reproductive Health. 2024; 12(2): 4264-4269. DOI: 10.22038/JMRH.2022.66590.1943.
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