Prenatal cytogenetic diagnosis: results obtained in the specialized laboratory of Clínica Universitaria Colombia from 2013 to 2019

References

• Caron L, Tihy F, Dallaire L. Frequencies of chromosomal abnormalities at amniocentesis: Over 20 years of cytogenetic analyses in one laboratory. Am J Med Genet. 1999;82(2):149–154.
   PubMed Web of Science ®Google Scholar
• Hu Q, Chai H, Shu W, et al. Human ring chromosome registry for cases in the Chinese population: re-emphasizing cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Mol Cytogenet. 2018;11:19.
   PubMed Web of Science ®Google Scholar
• Association for Clinical Cytogenetics. Professional guidelines for clinical cytogenetics prenatal diagnosis best practice guidelines (2009). Prenatal Diagnosis. 2009;:1–24.
   Google Scholar
• Silva E, Giraldo A, Bermúdez A. Diagnóstico prenatal citogenético: líquido amniótico versus vellosidades coriónicas. Rev Colomb Obstet Ginecol. 1997;48(3):169–175.
   Google Scholar
• Milunsky A. The prenatal diagnosis of neural tube and other congenital defects. In: Genetic disorders and the fetus. US: Springer, Boston, MA ; 1986. p. 453–519.
   Google Scholar
• Shani H, Goldwaser T, Keating J, et al. Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center. Am J Obstet Gynecol. 2016;214(6):729.e1–729.e11.
   PubMed Web of Science ®Google Scholar
• Quintana J, Quiñones O, Méndez L, et al. Resultados del diagnóstico prenatal citogenético en las provincias occidentales de Cuba, 1984–1998. Rev Cuba Genética Humana. 1999;1(3):9.
   Google Scholar
• Pimentel Benítez HI, Aniorland I, Borrego G, et al. Diagnóstico Prenatal Citogenético en Camagüey. Resultados de 20 años. Rev Cuba Genet Comunit. 2008;2(3):34–38.
   Google Scholar
• Becerra C, Serrano N. Diagnóstico prenatal de aneuploidías por amniocentesis. Experiencia de dos años de trabajo. Rev Colomb Obstet Y Ginecol. 1998;49(3):163–1666.
   Google Scholar
• Fandiño A, Lucumí B, Ramírez J, et al. Valor predictivo positivo del diagnóstico prenatal invasivo para alteraciones cromosómicas. Rev Fac Med. 2018;66(1):19–24.
   Google Scholar
• Huamán GM, Quiroga de Michelena M, Arias J, et al. Diagnóstico Prenatal de Anomalías Cromosómicas. Rev Peru Ginecol y Obstet. 2007;53(3):181–186.
   Google Scholar
• Huamán GM, Quiroga De Michelena M, St. Martin B, et al. Diagnóstico prenatal de anomalías cromosómicas Biopsia de vellosidades coriales y amniocentesis para cariotipo fetal. Rev Peru Ginecol y Obstet. 2016;62(3):269–277.
   Google Scholar
• Chai H, Diadamo A, Grommisch B, et al. Integrated FISH, karyotyping and aCGH analyses for effective prenatal diagnosis of common aneuploidies and other cytogenomic abnormalities. Med Sci. 2019;7(2):16.
   Google Scholar
• Cerrillo Hinojosa M, Yerena de Vega MC, González Panzzi ME, et al.. Genetic amniocentesis in high-risk populations. Experience in 3081 cases. Ginecol Obstet Mex. 2009;77(4):173–182.
   PubMedGoogle Scholar
• Díaz PA, Garrido Y, Guerra A, et al. Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010. MediSur. 2012;10(5):399–404.
   Google Scholar
• Fanny C, Citogenética FG. Prenatal. Rev Medica Julio. 2008:196–201.
   Google Scholar
• Ghosh S, Feingold E, Kumar DS. Etiology of Down syndrome: evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009;149A(7):1415–1420.
   PubMed Web of Science ®Google Scholar
• Vraneković J, Božović IB, Grubić Z, et al. Down syndrome: parental origin, recombination, and maternal age. Genet Test Mol Biomarkers. 2012;16(1):70–73.
   PubMed Web of Science ®Google Scholar
• Posso J, Sinisterra S, Vásquez G, Isaza de Lourido C. Estudio genético en embarazadas. Rev Colomb Obstet Ginecol. 2004;55(1):35–39.
   Google Scholar
• Milunsky A, Milunsky J. Genetic disorders and the fetus: diagnosis, prevention, and treatment. 7th ed. Wiley Blackwell; 2015. p. 1208.
   Google Scholar
• Capalbo A, Hoffmann ER, Cimadomo D, et al. Human female meiosis revised: New insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging. Hum Reprod Update. 2017;23(6):706–722.
   PubMed Web of Science ®Google Scholar
• Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down syndrome projects. Hum Genet. 2009;125(1):41–52.
   PubMed Web of Science ®Google Scholar
• Kim YJ, Lee JE, Kim SH, et al. Maternal age-specific rates of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age. Obstet Gynecol Sci. 2013;56(3):160.
   PubMedGoogle Scholar
• Park IY, Kwon JY, Kim YH, et al. Maternal age-specific rates of fetal chromosomal abnormalities at 16-20 weeks’ gestation in Korean pregnant women ≥35 years of age. Fetal Diagn Ther. 2010;27(4):214–221.
   PubMed Web of Science ®Google Scholar
• Saiyed N, Bakshi S, Muthuswamy S, et al. Young mothers and higher incidence of maternal meiosis-I non- disjunction: Interplay of environmental exposure and genetic alterations during halt phase in trisomy 21. Reprod Toxicol. 2018;79:1–7.
   PubMed Web of Science ®Google Scholar
• ] Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91(10):3897–3902.
   PubMed Web of Science ®Google Scholar
• Oliver TR, Feingold E, Yu K, et al. New insights into human nondisjunction of chromosome 21 in oocytes. PLOS Genet. 2008;4(3):e1000033–9.
   PubMed Web of Science ®Google Scholar
• Arsham MS, Barch MJ, Lawce HJ. The AGT cytogenetics laboratory manual. 4th ed. Wiley Online Library; 2017. p. 1218.
   Google Scholar
• Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521–526.
   PubMed Web of Science ®Google Scholar
• Martínez Fernández ML. Estudio clínico epidemiológico de las alteraciones cromosómicas estructurales como causa de anomalías congénitas humanas. Universidad Complutense de Madrid. Facultad de Ciencias Biológicas. E-Prints Complutense. Repositorio Institucional de la UCM. Boletin del ECEMC. Serie VI, N° 1, 2011, p. 69–75.
   Google Scholar
• Kan ASY, Lau ET, Tang WF, et al. Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong. PLOS One. 2014;9(2):e87988.
   PubMed Web of Science ®Google Scholar
• Wessel K, Suleiman J, Khalaf TE, et al. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. BMC Med Genet. 2017;18(1):3–7.
   PubMedGoogle Scholar
• Querejeta ME, Nieva B, Navajas J, Cigudosa JC, et al. Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo. Diagnostico Prenat. 2012;23(2):49–55.
   Google Scholar
• Li W, Xia Y, Wang C, et al. Identifying human genome-wide CNV, LOH and UPD by targeted sequencing of selected regions. PLOS One. 2015;10(4):1–18.
   Web of Science ®Google Scholar
• Lee C. The future of prenatal cytogenetic diagnostics: a personal perspective. Prenat Diagn. 2010;30(7):706–709.
   PubMed Web of Science ®Google Scholar
• González R, Maza M, López Y, et al. Comportamiento del Programa de Diagnóstico Prenatal Citogenético mediante la amniocentesis en Minas de Matahambre. Rev Ciencias Médicas. 2013;17(3):69–79.
   Google Scholar
• Kataguiri M, Júnior E, Bussamra L, et al. Influence of second-trimester ultrasound markers for down syndrome in pregnant women of advanced maternal age. J Pregnancy. 2014;(7):1–6.
   Google Scholar
• Hook EB. Chromosome abnormalities in older women by maternal age: Evaluation of regression-derived rates in chorionic villus biopsy specimens. Am J Med Genet. 1990;35(2):184–187.
   PubMed Web of Science ®Google Scholar
• Trimble B, Baird P. Maternal age and Down syndrome: age-specific incidence rates by single-year intervals. Am J Med Genet. 1978;2(1):1–5.
   PubMed Web of Science ®Google Scholar
• Colciencias CM. de S y PS-. Guías de práctica clínica para la prevención, detección temprana y tratamiento de las complicaciones del embarazo, parto o puerperio. Para Uso de Profesionales de la Salud. Bogotá D.C.: MinSalud Colciencias; 2013; p. 11–15.
   Google Scholar