Heterotaxy Syndrome with Increased Nuchal Translucency and Normal Karyotype Associated with Complex Systemic Venous Return. Ultrasound Diagnosis with Autopsy Correlation

2021 ◽  
pp. 1-9
Author(s):  
Gabriele Tonni ◽  
Maria Paola Bonasoni ◽  
Gianpaolo Grisolia ◽  
Maria Belloti ◽  
Edward Araujo Júnior
Keyword(s):  
Venous Return ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Ultrasound Diagnosis ◽  
Heterotaxy Syndrome ◽  
Systemic Venous Return ◽  
Increased Nuchal Translucency

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.

scholarly journals Outcome of Pregnancy in Chromosomally Normal Foetus with Increased Nuchal Translucency

2020 ◽  
Vol 17 (1) ◽  
Author(s):  
Ranjit S ◽  
Carol P ◽  
Kellie C ◽  
Pauline M ◽  
Renuka S
Keyword(s):  
Developmental Delay ◽  
Heart Defects ◽  
Normal Karyotype ◽  
Normal Pregnancy ◽  
Nuchal Translucency ◽  
Postnatal Period ◽  
Termination Of Pregnancy ◽  
Intrauterine Death ◽  
Increased Nuchal Translucency ◽  
Structural Anomalies

Objective: The aim of this study is to evaluate the outcome of pregnancy in prenatal and postnatal period of pregnancy complicated with thick nuchal translucency but normal karyotype. Methods: This is a retrospective study of 119 singleton pregnancies with increased NT (NT > 2.5mm) but a normal karyotype over a 3 year period. The records of ultrasound at 18-20 and 25-26 weeks’, antenatal and postnatal details were reviewed. The developmental and health outcomes of the surviving children were obtained through telephone conversation with the family. Adverse outcome such as miscarriages, termination of pregnancy, intrauterine death, structural anomalies and neurodevelopment delay were analysed. Results: Out of 119 foetuses with increased NT but normal karyotype, 11.8% of pregnancies ended with miscarriages, termination of pregnancy and intrauterine death. 89.9% foetuses were structurally normal. 12.9% presented with structural anomalies in the second-trimester ultrasound scan. 81.8% showed major malformations, out of which 44% consisted of heart defects. 1% of foetuses were syndromic and 1.9% had developmental delay. 96.8% of foetuses with NT equal to or greater than the 95th percentile (3.4mm) and 80% with NT equal to or greater than the 99 percentile (5.5mm) had a normal outcome. 50% of foetuses with thickened nuchal fold had a poor outcome. Postnatal follow-up was established for all infants and toddlers, and abnormalities were observed in 5.6% of them. Chances of having a live and healthy infant decreases with increased NT, corresponding to 80% for NT equal to or greater than 5.5mm. Conclusion: We have provided data that may help in the counselling of parents and increasing their confidence on a favourable pregnancy outcome. In cases with increased nuchal translucency but normal karyotype, the chances of normal pregnancy success rate is 89.9%. Parents can be reassured that thickened nuchal translucency with a normal karyotype and normal targeted ultrasound between 20-22 weeks gestation, the risk of adverse perinatal outcome and postnatal developmental delay is not increased in comparison with that of the general population. This seems to be the case for all degrees of increased nuchal translucency.

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