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 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

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.

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

2015 ◽  
Vol 46 (6) ◽  
pp. 650-658 ◽  
Author(s):  
M. Grande ◽  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genomic Microarray ◽  
Increased Nuchal Translucency

scholarly journals Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

2007 ◽  
Vol 30 (1) ◽  
pp. 11-18 ◽  
Author(s):  
C. M. Bilardo ◽  
M. A. Müller ◽  
E. Pajkrt ◽  
S. A. Clur ◽  
M. M. van Zalen ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report

2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Yuko Takahashi ◽  
Takeshi Nagamatsu ◽  
Tatsuya Fujii ◽  
Ayako Hashimoto ◽  
Seisuke Sayama ◽  
...  
Keyword(s):  
Heart Diseases ◽  
Umbilical Vein ◽  
Normal Karyotype ◽  
Final Diagnosis ◽  
Nuchal Translucency ◽  
Venous System ◽  
Ductus Venosus ◽  
Hereditary Factors ◽  
Anomalous Pulmonary Venous Return ◽  
Increased Nuchal Translucency

Abstract Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing the pathogenic relationship between venous system anomalies and increased nuchal translucency (NT) are few. We report sibling recurrence of congenital venous system anomalies. In the prenatal periods of both siblings, increased NT without aneuploidy was confirmed. In the first sibling, the absence of ductus venosus (ADV) and umbilical vein-coronary sinus anastomosis was detected using prenatal ultrasonography. In the second sibling, abnormality of the pulmonary vein was suspected prenatally, leading to a final diagnosis of infracardiac total anomalous pulmonary venous return (TAPVR). This is the first report of extracardiac venous anomaly-associated recurrence of increased NT among siblings. We conclude that a hereditary factor may be responsible for the development of ADV and TAPVR.

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.

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