2010, Number 10
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ABSTRACTBackground: Nuchal translucency is widely used to screen for trisomy 21 in the first trimester of pregnancy. It has also been associated with other chromosomal abnormalities, genetic syndromes and congenital defects.
Objective: To evaluate the perinatal outcome of patients who showed nuchal translucency greater or equal to 95th percentile during the first trimester ultrasound screening, which underwent fetal karyotype.
Material and method: Case series. Fetuses with nuchal translucency greater or equal to 95th percentile were evaluated by fetal karyotype, second-trimester structural ultrasound scan, fetal echocardiography and postnatal clinical genetic evaluation, attended in the servicio de Genética of the Instituto Nacional de Perinatología Isidro Espinosa de los Reyes.
Results: 48 fetuses were evaluated. The karyotype was normal in 39 (81%) and abnormal in 9 (19%) cases of which three had trisomy 21, three monosomy X, two trisomy 18 and one 47,XYY. In the cases with normal karyotype, 13 (33%) showed an abnormal second trimester ultrasound scan; among them, 12 had major congenital defects, 5 of them had abnormal cardiac findings that were confirmed by fetal echocardiography. In the group of 26 fetuses with normal karyotype and ultrasound, only 2 patients had minor birth defects.
Conclusions: Increased fetal nuchal translucency is frequently associated with chromosomal abnormalities and several congenital defects, mostly heart defects and genetic syndromes. Our findings are in accordance with other published reports where a complete follow-up of all patients with increased nuchal translucency is recommended even if they have a normal karyotype, due to the increased risk of having other congenital defects or syndromic entities.
Thompson MW, McInnes RR, Willard HF. Principios de citogenética clínica. Genética en Medicina. 5ª ed. Barcelona: Masson, 1996;p:59.
Zubieta-Ruiz B, Sánchez-Márquez P, Castillo-Cruz RA. Enfermedades genéticas y defectos al nacimiento. Impacto en la morbilidad y mortalidad pediátrica. Acta Pediatr Mex 2009;30(4):220-225.
Nicolaides KH, Falcón O. La ecografía de las 11-13.6 semanas. Londres: Fetal Medicine Foundation, 2004.
Snijders RJ, Noble PL, Sebire NJ, et al. UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks’ gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998;352:343-346.
Pandya PP, Kondylios A, Hilbert L, et al. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency.Ultrasound Obstet Gynecol 1995;5:15-19.
Cheng C, Bahado-Singh RO, Chen S, et al. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening. Int J Gynaecol Obstet 2004;84:5-9.
Grether G., Aguinaga R. Tamiz genético prenatal: marcadores bioquímicos del primer y segundo trimestres. Ginecol Obstet Mex 2009;77(2):S27-46.
Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18:9-17.
Hippala A, Eronen M, Taipale P, et al. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 2001;18:18-22.
Bilardo CM, Pajkrt E, de Graaf I, et al. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 1998;11:401-406.
Saldanha FA, Brizot ML, Moraes EA, et al. Increased fetal nuchal translucency thickness and normal karyotype: prenatal and postnatal follow-up. Rev Assoc Med Bras 2009;55(5):575-580.
Haak MC, Van Vugt JM. Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update 2003;9:175-184.
Ghi T, Huggon IC, Zosmer N, et al. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001;18:610-614.
McAuliffe FM, Hornberger LK, Winsor S, et al. Fetal cardiac defects and increased nuchal translucency thickness; a prospective study. Am J Obstet Gynecol 2004;191:1486-1490.
Brown RN, Nicolaides KH. Increased fetal nuchal translucency: possible association with esophageal atresia. Ultrasound Obstet Gynecol 2000;15:531-532.
Sebire NJ, Snijders RJ, Davenport M, et al. Fetal nuchal translucency thickness at 10±14 weeks’ gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997;90:943-946.
De Biasio P, Prefumo F, Casagrande V, et al. First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat Diagn 2006;26(1):77-80.
Van Zalen-Sprock RM, Vugt JM, van Geijn HP. First-trimestre sonography of physiological midgut hernation and early diagnosis of omphalocele. Prenat Diagn 1997;17:6:511-518.
Huang WH, Porto M. Abnormal first trimester fetal nuchal translucency and Cornelia de Lange syndrome. Obstet Gynecol 2002;99:956-958.
Senat MV, Bussières L, Couderc S, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 2007;196:53. e1-53.e6.