Resultados perinatales y obstétricos en fetos con translucencia nucal incrementada

espanolEl objetivo es analizar los resultados perinatales y obstetricos de las gestaciones en cuya ecografia del primer trimestre se objetivo translucencia nucal incrementada. Obtuvimos 170 translucencias nucales aumentadas (mayor o igual a 3,5 mm), en 62 casos (36,47%) el cariotipo fue normal, en 84 casos (49,41%) fue patologico y en 24 casos (14,11%) no se realizo tecnica invasiva. Del total de cariotipos normales (62 casos), 47 gestaciones llegaron a termino con parto en nuestro centro y recien nacido normal, dos abortos tras realizacion de tecnica invasiva y hubo diez interrupciones legales del embarazo. Los hallazgos ecograficos encontrados son los siguien - tes: un caso con megavejiga (2,12%), un caso con onfalocele (2,12%), dos casos de higroma quistico (4,3%), dos hidrops fetales severos, ambos con canal auricoventricular completo, dos ausencias del hueso nasal (4,3%) y cuatro comunicaciones interventriculares (8,5%). En cuanto al total de translucencia nucal incrementada, 39 casos se correspondieron con trisomia del par 21 (23%), 18 con de trisomia 18 (10,6%), 10 con trisomia 13 (5,9%), 14 con 45XO (8,2%), 1 con 47XXX, (0,7% ), 1 con trisomia 10 (0,7%) y 1 con translocacion balanceada 45 XX (t 8;21) (p11;q11)(0,7%). El incremento del grosor de la translucencia nucal entre las 11 y 13 semanas y seis dias cons - tituye una expresion fenotipica comun de las aneuploidias y una gama de malformaciones fetales y sindromes geneticos. En los fetoseuploides, la prevalencia de las anormalidades fetales y los resultados perinatales adversos aumenta con el incremento de la translucencia nucal EnglishThe objective was to analyze the perinatal and obstetric outcomes of pregnancies, in which increased NT was detected onfirst-trimesterroutine ultrasoundstudy. A total of 170 cases of increased nuchal translucency (equal to or higher than 3.5mm)were detected. Within these cases, 62 (36,47%) had normal karyotype, 84 (49,41%) had aneuplody and 24 (14,11%) were not subjected to invasive techniques. From the group of patients with augmented nuchal translucency and normal karyotype (62), 47 reached full-term delivery at our hospital and the newborns were normal; 2 ended in miscarriage after undergoing an invasive technique, 10 ended in legal termination of pregnancy and 3 did not give birth at our hospital and their data were not available. Ultrasound findings in these patients included: one case of megacystis (2,12%), one case of omphalocele (2,12%), two cases of cystic hygroma (4,3%), two cases of severe hydrops fetalis both with complete AV canal (4,3%), two cases of absent nasal bone (4,3%) and four cases of interventricular communication (IVC) (8,5%). From the total of cases of increased nuchal translucency, 39 corresponded to trisomy-21 (23%); 18 (10,6%) to trisomy-18; 10 to trisomy-13 (5,9%); 14 to Turner’s syndrome (8,2%), 1 to karyotype 47XXX (0,7%); 1 to trisomy-10 (0,7%) and 1 to balanced translocation 45 XX (t 8;21) (p11;q11) (0,7%). Nuchal translucency thickening between weeks 11 and 13+6 days is a common phenotypical manifestation of a neuploidy and a wide range of fetal malformations and genetic syndromes. In euploid fetuses, the prevalence of fetal abnormal findings and adverse perinatal outcome increases with the nuchal translucency value.