[en] OBJECTIVE The measurement of Nuchal translucency (NT) between 11 and 14 weeks' gestation is a reliable marker for chromosomal abnormalities. However, even if conventional karyotyping is normal, increased NT is a predictive value of adverse pregnancy outcome. Therefore, the purpose of this study was to evaluate the pregnancy and postnatal outcome of all the pregnancies, during the period 2007-2015, that underwent first trimester ultrasonography with the measurement of NT thickness greater than the 99th percentile, and calculation of chromosomal abnormalities by using the combined test. METHODS A total of 8161 patients within the years 2007 and 2015 were assessed during the first trimester of pregnancy with a combined test. The fetal NT was measured and results were calculated and saved. Cases with NT greater than the 99th percentile were informed and offered to performan invasive test for prenatal diagnosis by fetal karyotyping. Information from data base was collected and analyzed. All fetuses with NT greater than the 99th percentile were reviewed as well as their fetal and neonatal outcome. RESULTS During the mentioned period 58 fetuses with NT greater than the 99th percentile were found (prevalence of 0.71%). From the total of fetuses included, 31 (53,4%) resulted with normal outcomes. 42 karyotypes were performed obtaining the sample from amniocentesis. In this group 33 resulted normal (46XX, 46XY), of which: 25 had normal pregnancy and neonatal outcomes; 2 legal pregnancy termination were performed because of myelomeningocele and renal malformation; 3 newborn (NB) were diagnosed of paten foramen ovale; in 1 premature NB was observed fetal anemia; and data from 2 patients was not possible to obtain. Chromosomal abnormalities were found in 9 karyotypes: 5 Down syndromes, 1 Tuner syndrome, 1 Trisomy 18, 1 Trisomy 13 and 1 karyotype 49XXXY. About the patients who did not accept invasive test (n=16): 6 normal pregnancy and neonatal outcomes were found. 3 first trimester legal pregnancy terminations were confirmed without further anatomical pathologic study. 2 spontaneous abortions one of them with ananatomical pathologic result of Trisomy 18. 1 twin pregnancy with a selective feticide due to multiple malformations of one of the twins. And 1 NB who underwent surgery because of ureteral stenosis and persists in study for plagiocephaly, psychomotor retardation and gastro esophageal reflux disease. Information regarding 3 patients was not possible to obtain. CONCLUSION These findings are according with published studies of how the measurement of NT is a useful marker of chromosomal abnormalities, fetal malformations and genetic syndromes. We can show an association between the increase of fetal NT and adverse pregnancy and neonatal outcomes. By performing first trimester ultrasonography and calculating combined risk, we can advise parents on the need to undergo extra investigations and to take counsel with a geneticist.

[gl] Obxectivo. A medición da translucencia nucal ( TN) entre a semana 11 e 14 de xestación é un marcador confiable para a asociación de alteracións cromosómicas, anomalías estruturais, síndromes xenéticas, atraso de desenvolvemento e morte intraútero. O propósito deste estudo foi avaliar os resultados pre e postnatales de todos os embarazos que tiveron unha TN maior ao percentil 99, no primeiro trimestre do embarazo, durante o período 2007 e 2015. Métodos. Un total de 8161 pacientes, no período 2007-2015, foron sometidas durante o primeiro trimestre da súa xestación ao rastrexo combinado de cromosomopatías. Aos casos cunha TN maior ao p99 ofertouselles a realización dun estudo cromosómico e outras probas prenatales adicionais. Revisáronse resultados e a evolución dos recentemente nados ( RN). Resultados Durante o período mencionado atopáronse 58 fetos cunha TN maior ao p99 (prevalencia=0.71%). Deste total, 31 fetos (53,4%) tiveron resultados normais. Realizáronse 42 cariotipos fetales. 33 resultaron normais, dos cales en 8 casos observáronse : 2 interrupcións legais do embarazo por un mielomeningocele e unha malformación renal; 3 RN diagnosticados de forame oval persistente e 1 RN prematuro con diagnóstico de anemia fetal. Non foi posible de obter datos de 2 pacientes por non haber rexistro das historias no SERGAS. Atopáronse 9 cariotipos con alteracións cromosómicas: 5 Trisomías 21, 1 Síndrome de Turner, 1 Trisomía 18, 1 Trisomía 13 e un cariotipo 49 XXXY. Das pacientes que non aceptaron realizar unha proba invasiva ( n=16): 6 tiveron unha xestación e resultado neonatal normal; confirmáronse 3 interrupcións legais do embarazo no primeiro trimestre sen estudo anatomopatolóxico (AP) posterior; 2 abortos espontáneos ocorreron un deles con resultado AP de Trisomía 18 e 1 RN foi sometido a cirurxía por estenose uretral e continua en estudo por plaxiocefalia, atraso psicomotor e enfermidade de RGE. Non foi posible de obter información con respecto a 3 pacientes por traslado de domicilio. Conclusión Estes resultados están acordes con estudos publicados. O cálculo da TN é un marcador útil para o estudo de alteracións cromosómicas, malformacións fetales e síndromes xenéticas. Podemos demostrar unha asociación entre o aumento da TN e resultados adversos pre e postnatales. Ao realizar a ecografía do primeiro trimestre e o cálculo combinado de risco de cromosomopatías, podemos aconsellar ás pacientes sobre a necesidade de realizar probas adicionais e recorrer en certos casos a consello xenético.