Ultraschall in der Medizin - European Journal of Ultrasound · 2009 · 46 citations · 0 references
MedicineGeneticsObstetricsHuman GeneticsMaternal-fetal MedicinePrenatal DiagnosisChromosomal AbnormalitiesCongenital AnomaliesCongenital DisordersCongenital Heart DiseaseCongenital MalformationsFetal AnomaliesCongenital Cardiac AnomaliesFetal Cardiovascular MalformationsFetal Chromosomal AbnormalitiesFirst Trimester UltrasonographyLive Birth Outcome AssessmentNeurodevelopmental MalformationsStructural Defect AssessmentStructural Defects
PURPOSE: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. MATERIALS AND METHODS: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. RESULTS: 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. CONCLUSION: Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.