Aumento de la translucencia nucal y flujo reverso del ductus venoso en cardiopatía congénita. Reporte de un caso en Caracas, Venezuela

Cristian Sosa, Libardo Gómez, Carlos Bermúdez, Juan Pérez-Wulff

Resumen


Introducción: el aumento de la translucencia nucal (TN) fetal aumentada, en la gestación entre las 11 y 14 semanas, es una expresión fenotípica común de anormalidades cromosómicas, incluyendo la trisomía 21. Sin embargo, incluso en ausencia de aneuploidía, el engrosamiento nucal es un dato relevante desde el punto de vista clínico, porque se asocia con un aumento en el resultado perinatal adverso causado por una variedad de malformaciones fetales, displasias, deformaciones, disrupciones y de síndromes genéticos. Se presenta este caso con el objetivo de resaltar la importancia de la TN como marcador de patologías diferentes de las aneuploidías cuando la misma se encuentra por encima del percentil 99.

Discusión: una vez descartada la aneuploidía, el riesgo del resultado perinatal adverso no disminuye de forma estadística, si este engrosamiento nucal alcanza los3,5 milímetros o más(percentil 99).Este aumento del riesgo ocurre de manera exponencial a medida que aumenta la TN.

Sin embargo, si el feto sobrevive, el riesgo de presentar una cardiopatía congénita es elevado. Por lo tanto, un ultrasonido entre las 20 a 22semanas puede revelar las diferentes anormalidades cardiacas.


Palabras clave


translucencia nucal; cardiopatía congénita; ductus venoso

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Referencias


Rumack C, Wilson S, Charboneau J. Diagnóstico por ecografía. Segunda edición. Madrid: Marban; 2005. p. 1123-55.

Fleischer A, Mannig F, Jeanty P, Romero R. Ecografía en obstetricia y ginecología. Sexta edición. Madrid: Marban;2004. p.157-76.

Orvos H, Wayda K, Kozinsky Z, Katona M, Pál A, Szabó J. Increased nuchal translucency and congenital Herat defects in euploid fetuses. The Szeged experience. Eur J Obstet Gynecol Reprod Biol 2002;101:124-8.

Chasen ST, Skupski DW, McCullough LB, Chervenak FA. Prenatal informed consent for sonogram: the time for first-trimester nuchal translucency has come. J Ultrasound Med 2001;20:1147-52.

Mavrides E, Cobian-Sánchez F, Tekay A, Moscoso G, Campbell S, Thilaganathan B, et al. Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 2001;17:106-10.

Nicolaides KH, Snijders RJ, Cuckle HS. Correct estimation of parameters for ultrasound nuchal translucency screening. Prenat Diagn 1998;18:519-21.

Cafici D, Mejides A, Sepúlveda W. Ultrasonografía en obstetricia y diagnóstico prenatal. Primera edición. Buenos Aires: Ediciones Juornal 2003. p. 201-6.

Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks gestation. Ultrasound Obstet Gynecol 1998;11:391-400.

Allan L, Benacerraf B, Copel JA, Carvalho JS, Chaoui R, Eik-Nes SH, et al. Isolated major congenital Herat disease. Ultrasound Obstet Gynecol 2001;17:370-9.

Nicolaides KH, Azal G, Snijders RJ, Gosden CM. Fetal nuchal edema: associated malformations and chromosomal defects. Fetal Diagn Ther 1992;7:123-31.

Carvalho JS, Mavrides E, Shinebourne EA, Campbell S, Thilaganathan B. Improving the efectiveness of routine prenatal screening for major heart defects. Heart 2002;88:387-91.

Hyett AJ, Perdu M, Sharland GK, Snijders RS, Nicolaides KH. Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol 1997;10:242-6.

Hyett J, Moscoso G, Papapanagiotu G, Perdu M, Nicolaides KH. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 1996;7:245-50.

Antolín E, Comas C, Torrents M, Muñoz A, Figueras F, Echevarría M, et al. The role of ductus venosus blood flow assessment in screening chromosomal abnormalities at 10-16 weeks of gestations. Ultrasound Obstet Gynecol 2001;17:295-300.

Montenegro N, Matías A, Areias JC, Castedo S, Barros H. Increased fetal nuchal translucency: possible involvement of early cardiac failure. Ultrasound Obstet Gynecol 1997;10:265-8.

Mavrides E, Sairam S, Hollis B, Thilaganathan B. Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venous. BJOG 2002;109:1015-9.

Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11-14 weeks. Prenat Diagn 2002;22:308-15.

Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18:9-17.

Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001;17:102-5.

Bilardo CM, Müller MA, Zikulnig L, Schipper M, Hecher K. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 2001;17:288-94.

Fukada Y, Amemiya A, Kohno K, Sunami R, Kobayashi Y, Hoshi K. Prenatal course and pregnancy outcome of fetuses with a transient nuchal translucency. Int J Gynaecol Obstet 2002;79:225-8.

Ville Y, Lalondrelle C, Doumerc S, Daffos F, Frydman R, Oury JF, et al. First-trimester diagnosis of nuchal anomalies: significance and fetal outcome. Ultrasound Obstet Gynecol 1992;2:314-6.

van Zalen-Sprock RM, van Vugt JMG, van Geijn HP. First-trimester diagnosis of cystic hygroma-course and outcome. Am J Obstet Gynecol 1992;167:94-8.

Hewitt B. Nuchal translucency in the first trimester. Aust NZ J Obstet Gynaecol 1993;33:389-91.

Bilardo CM, Pajkrt E, de Graaf IM, Mol BWJ, Bleker OP. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 1998;11:401-6.

Mangione R, Guyon F, Taine L, Wen ZQ, Roux D, Vergnaud A, et al. Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency. Fetal Diagn Ther 2001;16:360-3.

Cheng C, Bahado-Singh RO, Chen S, Tsai M. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening. Int J Gynaecol Obstet 2004;84:5-9.

Souka AP, Von Kaisenberg CS, Hyett JA, Sones JD, Nicolaides KH. Increased nuchal translucency with normal kar yotype. Am J Obstet Gynecol 2005;192:1005-21.

Ghi T, Huggon IC, Zosmer N, Nicolaides KH. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001;18:610-4.

Lopes LM, Brizot ML, Lopes MA, Ayello VD, Schultz R, Zugaib M. Structural and functional cardiac abnormalities identified prior to 16 weeks’ gestation in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 2003;22:470-8.

McAuliffe F, Winsor S, Hornberger L, Jonson JA. Fetal cardiac defects and increased nuchal translucency thickness. Am J Obstet Gynecol 2003;189:571.

Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 1999;318:81-5.

Orvos H, Wayda K, Kozinsky Z, Katona M, Pál A, Szabó J. Increased nuchal translucency and congenital Herat defects in euploid fetuses. The Szeged experience. Eur J Obstet Gynecol Reprod Biol 2002;101:124-8.

Nicolaides KH. First-trimester screening for chromosomal abnormalities. Semin Perinatol 2005;29:190-4.

Senat MV, De Keersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2002;22:345-9.


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ISSN Impreso       0034-7434 

ISSN Electrónico   2463-0225

https://doi.org/10.18597/issn.0034-7434