Long-Term Outcome for Children Born After a First-Trimester Measurement of Increased Nuchal Translucency with a Normal Karyotype: A Retrospective Analysis

Zusammenfassung

Ziel: Beschreibung des Langzeitoutcomes von Feten mit erhöhter Nackentransparenz und normalem Karyotyp im Hinblick auf intrauterine Fruchttode, strukturelle Anomalien, Syndrome und neurologisches Handicap. Material und Methoden: Retrospektive Analyse und Telefoninterview. Alle eingeschlossenen Schwangerschaften mussten eine detaillierte Fehlbildungssonografie im 2. Trimenon aufweisen. Ergebnisse: 279 Schwangerschaften wurden untersucht. Die Over-all-Lebendgeburtenrate war 81,4 %, mit zunehmender NT-Dicke war die Zahl der Lebendgeburten deutlich rückläufig. Herzfehler waren die häufigsten strukturellen Anomalien (7 %). Bei unauffälligem Fehlbildungsultraschall wurde in 92 % ein gesundes Kind geboren. Unerwartete neurologische Beeinträchtigungen traten in 1,1 % der Fälle auf. Schlussfolgerung: In der Beratung der werdenden Eltern in Fällen mit euploiden Feten, erweiterter Nackentransparenz und unauffälligem Fehlbildungsultraschall im 2. Trimenon sollte die günstige Prognose für diese Schwangerschaften betont werden.

Abstract

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.

Key words

fetus - ultrasound 2D - pregnancy - nuchal translucency

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