Pregnancy outcome and long-term follow-up of fetuses with isolated increased NT: a retrospective cohort study
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Ambra Iuculano
Abstract
Objective: To assess the prevalence of associated findings, diagnosed either prior to or after birth, among fetuses with increased nuchal translucency (NT) and normal karyotype and to investigate the prevalence of children under therapy at school age, among cases confirmed to be isolated both prior to and after birth.
Methods: Retrospective cohort study of all singleton pregnancies were referred for the 1st trimester screening for Down syndrome between January 2004 and December 2006. Cases with NT >95th percentiles who undertook fetal karyotype were analyzed. We evaluated the prevalence of the following: (i) abnormal fetal karyotype, (ii) associated structural abnormalities, (iii) genetic syndromes, and (iv) children needing treatment (i.e. medications or psychopedagogical intervention) at school age.
Results: There were 19 106 women screened for Down syndrome. Among them, 846 (4.4%) had a NT >95th centile, of whom 541 (64.0%) undertook fetal karyotyping, 422 (78.0%) had normal karyotype, two (0.5%) opted for termination of pregnancy, and four (1.0%) ended in miscarriages. Among the 384 cases thought to be “normal” prior to birth, 14 (3.6%) were lost at follow-up and 10 (2.7%) had an associated abnormality diagnosed postnatally. Among the cases confirmed to be isolated, 10/270 (3.7%) were under treatment at the time of telephonic interview with parents.
Conclusions: Parents should be informed that fetuses with increased NT and normal karyotype need detailed ultrasound scans during pregnancy and detailed pediatric evaluation at birth; if these are normal, the risk from adverse outcome at school age is the same as for general population.
References
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Editorial
- Current topics on ultrasound in perinatology
- Recommendation and Guidelines for Perinatal Practice
- Ultrasound in Africa: what can really be done?
- 3D/4D sonography – any safety problem
- Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach
- Academy’s Corner
- Sonoembryology by 3D HDlive silhouette ultrasound – what is added by the “see-through fashion”?
- Original articles – Obstetrics
- How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?
- Single center experience in selective feticide in high-order multiple pregnancy: clinical and ethical issues
- Diagnostic accuracy of cervical elastography in predicting labor induction success: a systematic review and meta-analysis
- Birth weight-related percentiles of brain ventricular system as a tool for assessment of posthemorrhagic hydrocephalus and ventricular enlargement
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- Original articles – Fetus
- Nonimmune fetal ascites: identification of ultrasound findings predictive of perinatal death
- First trimester severe ductus venosus flow abnormalities in isolation or combination with other markers of aneuploidy and fetal anomalies
- Evaluation of the adequacy of reference charts for the accurate identification of fetuses with bone length below the 5th percentile
- Does ethnicity have an effect on fetal behavior? A comparison of Asian and Caucasian populations
- Accuracy of ultrasound in estimating fetal weight and growth discordancy in triplet pregnancies
- Fetal nasal bone length in the second trimester: comparison between population groups from different ethnic origins
- Pregnancy outcome and long-term follow-up of fetuses with isolated increased NT: a retrospective cohort study
- Effect of antenatal betamethasone administration on Doppler velocimetry of fetal and uteroplacental vessels: a prospective study
- Opinion paper
- Fetal cerebro-placental ratio and adverse perinatal outcome: systematic review and meta-analysis of the association and diagnostic performance
- Congress Calendar
- Congress Calendar
Articles in the same Issue
- Frontmatter
- Editorial
- Current topics on ultrasound in perinatology
- Recommendation and Guidelines for Perinatal Practice
- Ultrasound in Africa: what can really be done?
- 3D/4D sonography – any safety problem
- Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach
- Academy’s Corner
- Sonoembryology by 3D HDlive silhouette ultrasound – what is added by the “see-through fashion”?
- Original articles – Obstetrics
- How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?
- Single center experience in selective feticide in high-order multiple pregnancy: clinical and ethical issues
- Diagnostic accuracy of cervical elastography in predicting labor induction success: a systematic review and meta-analysis
- Birth weight-related percentiles of brain ventricular system as a tool for assessment of posthemorrhagic hydrocephalus and ventricular enlargement
- First trimester erythropoietin (EPO) serum concentration as a potential marker for abnormal placentation disorders. Reference values for erythropoietin (EPO) concentration at 11–13+6 weeks of gestation
- Original articles – Fetus
- Nonimmune fetal ascites: identification of ultrasound findings predictive of perinatal death
- First trimester severe ductus venosus flow abnormalities in isolation or combination with other markers of aneuploidy and fetal anomalies
- Evaluation of the adequacy of reference charts for the accurate identification of fetuses with bone length below the 5th percentile
- Does ethnicity have an effect on fetal behavior? A comparison of Asian and Caucasian populations
- Accuracy of ultrasound in estimating fetal weight and growth discordancy in triplet pregnancies
- Fetal nasal bone length in the second trimester: comparison between population groups from different ethnic origins
- Pregnancy outcome and long-term follow-up of fetuses with isolated increased NT: a retrospective cohort study
- Effect of antenatal betamethasone administration on Doppler velocimetry of fetal and uteroplacental vessels: a prospective study
- Opinion paper
- Fetal cerebro-placental ratio and adverse perinatal outcome: systematic review and meta-analysis of the association and diagnostic performance
- Congress Calendar
- Congress Calendar
