Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell‐free DNA

Abstract

Objective To assess the value of increased nuchal translucency (NT) at first‐trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell‐free DNA (cfDNA) for the detection of fetal aneuploidies. Methods Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only cases with increased NT and euploid karyotype were considered eligible for inclusion. Abnormal findings, diagnostic work‐up, and perinatal outcomes were assessed. Results Of 18 084 FTS results, 460 (2.5%) showed increased fetal NT, of which 242 (52.6%) underwent invasive karyotyping and 179 (74.0%) had an aneuploidy. Of the remaining 63 cases, 61 (96.8%) showed an additional sonographic finding at FTS and25 (78.1%) had a major anomaly at the second trimester organ scan. The outcome was termination of pregnancy in 28 (44.4%) cases, fetal demise in 5 (7.9%), delivery of an infant with malformation in 21 (33.3%), and delivery of a healthy infant in 7 (11.1%) cases. Conclusion All cases with increased NT would have been detected by cfDNA or by a major sonographic anomaly not later than the second trimester. Routine use of cfDNA, a basic sonogram, and an organ scan could reduce unnecessary work‐up and anxiety.

Translucencia nucal y pliegue nucal aumentado con recién nacido fenotípicamente normal. Reporte de caso

“…Holzer et al 15 , en una población de 18 084 encontró 460 casos de TN aumentada de los cuales 78.1% tenían una anomalía de órganos del segundo trimestre (megavejiga, onfalocele, gastrosquisis, anencefalia, defectos cardíacos, anomalías en las extremidades), llegando a la conclusión que toda TN aumentada debe complementarse con estudios de ADN fetal y ultrasonido de detalle durante el segundo trimestre. La medición de PN elevada en dos metaanálisis, muestra una sensibilidad global para síndrome de Down que varía entre 4 y el 34% con una mínima de falsos positivos 1% a 2.2% 16,17 .…”

Erkennbarkeit angeborener Herzfehler durch eine standardisierte Untersuchung des fetalen Herzens im ersten Trimenon

“…Dabei unterliegt die Prävalenz von Herzfehlern einer hohen Schwankungsbreite (Hoffman und Kaplan 2002, Bernier et al 2010. Schließt man milde Herzfehler in die Betrachtung der Prävalenz ein, findet man ähnlich hohe Fallzahlen (50/1000) (Benson 2002) % in den Studienpopulationen (Snijders et al 1998, Souka et al 2005, Holzer et al 2019. Die Messung der TR alleine reicht jedoch nicht aus, um die Indikation für eine frühe fetale Echokardiographie zu stellen, da die Genese der TR nicht immer in einer strukturellen Anomalie zu finden ist und der Befund der TR häufig transient auftritt (Huggon et al 2003, Karadzov Orlic et al 2019.…”

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs

“…In this circumstance, there is debate over the utility of NT in the era of NIPT. Some experts support the combined use of NT and NIPT, stating that NT may identify pregnancies at risk for chromosome abnormalities that would otherwise be false negatives by NIPT; others suggest that NT measurement alone does not add benefit in detecting aneuploidy when NIPT has been performed [ 7 – 9 ]. We undertook this study to assess the performance of NIPT in cases with different cutoffs of NT, which can be helpful for prenatal counselling.…”