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Elevated nuchal translucency, is it time to discuss the cut off?. A retrospective study
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  • Lucia Pasquini,
  • Ilaria Ponziani,
  • Elisa Spataro,
  • Giulia Masini,
  • Eleonora Biancareddu,
  • Adalgisa Cordisco,
  • Felice Petraglia
Lucia Pasquini
Azienda Ospedaliero Universitaria Careggi

Corresponding Author:[email protected]

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Ilaria Ponziani
University Hospital Careggi
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Elisa Spataro
University Hospital Careggi
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Giulia Masini
Azienda Ospedaliero Universitaria Careggi
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Eleonora Biancareddu
University Hospital Careggi
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Adalgisa Cordisco
Piero Palagi Hospital
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Felice Petraglia
University of Florence
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Abstract

Objectives To evaluate pregnancy and postnatal outcomes of fetuses with NT between 95th and 99th percentile and whether they could benefit from further investigations rather that routine scans. Design Retrospective multicenter observational study. Setting Two Italian Fetal Medicine centre Population All cases with NT between 95th and 99th percentile (667) among women undergoing NT measurement between January 2015 and December 2020. Methods Unfavourable outcome was considered as: miscarriage or intrauterine fetal death (IUFD), chromosomal abnormality/genetic syndrome, major malformation or neurodevelopmental delay. Study population outcomes were compared with general population. Main Outcome Measures Unfavourable pregnancy and postnatal outcomes. Results The rate of unfavourable outcome was 25.44%. We reported: 6 (0.90%) second trimester miscarriage or IUFD, 90 (13.49%) chromosomal abnormalities/genetic syndromes, 57 (8.55%) major malformations, 13 (1.95%) cases of neurodevelopmental delay. The incidence of chromosomal abnormalities/genetic syndromes and major malformations were significantly higher (OR 6.99 (IC 95% 4.33 - 11.28), p<0.001 and OR 17.77 (IC 95%7.22 - 43.75), p<0.001 respectively) compared to the general population. The incidence of neurodevelopmental delay was not increased (OR of 0.64 CI 95% 0.33 - 1.24 p=0.185). Conclusions Fetuses with NT between 95th and 99th percentile have an increased risk of pregnancy and postnatal adverse outcomes. According to our data it is reasonable to consider a lower NT cut off (NT>95th percentile) for offering further investigations such as detailed ultrasound scan, fetal echocardiography and counselling where the option of performing fetal karyotype and CGH array should be discussed. Funding The authors have no funding to declare.