scholarly journals Long-term follow-up of children with prenatally found increased nuchal translucency and normal karyotype

2015 ◽  
Vol 86 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Jakub Kornacki ◽  
Katarzyna Ziółkowska ◽  
Natalia Ignaszak ◽  
Jana Skrzypczak
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Long Term Follow Up ◽  
Increased Nuchal Translucency

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

2009 ◽  
Vol 3 (3) ◽  
pp. 83-90 ◽  
Author(s):  
L Orosz ◽  
J Lukács ◽  
M Szabó ◽  
T Kovács ◽  
I Zsupán ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Healthy Children ◽  
Cardiac Defects ◽  
Long Term Outcome ◽  
Long Term Follow Up ◽  
Minor Anomalies ◽  
Increased Nuchal Translucency

Abstract Objectives The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

Pregnancy outcome and long-term follow-up of fetuses with isolated increased NT: a retrospective cohort study

2016 ◽  
Vol 44 (2) ◽  
Author(s):  
Ambra Iuculano ◽  
Giorgio Pagani ◽  
Valentina Stagnati ◽  
Marcella Floris ◽  
Rosa Maria Ibba ◽  
...  
Keyword(s):  
Cohort Study ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
School Age ◽  
Long Term Follow Up ◽  
Singleton Pregnancies

AbstractTo 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.Retrospective cohort study of all singleton pregnancies were referred for the 1There were 19 106 women screened for Down syndrome. Among them, 846 (4.4%) had a NT >95Parents 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.

scholarly journals Fetal nuchal translucency and normal chromosomes: a long-term follow-up study

2001 ◽  
Vol 18 (1) ◽  
pp. 18-22 ◽  
Author(s):  
A. Hiippala ◽  
M. Eronen ◽  
P. Taipale ◽  
R. Salonen ◽  
V. Hiilesmaa
Keyword(s):  
Nuchal Translucency ◽  
Follow Up Study ◽  
Long Term Follow Up

P14.04: Increased nuchal translucency and normal karyotype: prospective follow-up of 52 fetuses

2004 ◽  
Vol 24 (3) ◽  
pp. 349-349
Author(s):  
A. Goncé ◽  
A. Borrell ◽  
E. Meler ◽  
A. Botet ◽  
J. M. Martínez ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

2021 ◽  
Vol 8 ◽  
Author(s):  
Kyra E. Stuurman ◽  
Marjolein H. van der Mespel-Brouwer ◽  
Melanie A. J. Engels ◽  
Mariet W. Elting ◽  
Shama L. Bhola ◽  
...  
Keyword(s):  
Diagnostic Yield ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Adverse Outcomes ◽  
Genetic Syndromes ◽  
Postnatal Outcome ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Background: Increased nuchal translucency (NT) is associated with aneuploidy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy.Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. The follow-up time after birth was maximally 4 years.Results: Totally, 149 of 166 women opted for prenatal testing. Seventy-seven fetuses showed normal karyotype (52%). Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Seven out of 73 live-born children showed an adverse outcome (9.6%).Conclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child.

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis
Keyword(s):  
Mental Health ◽  
Mental Disease ◽  
Brain Disorders ◽  
Social Stressors ◽  
Labor Education ◽  
Mental Diseases ◽  
Long Term Follow Up ◽  
Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

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