The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency

2008 ◽  
Vol 28 (11) ◽  
pp. 1037-1041 ◽  
Author(s):  
Moshe Bronshtein ◽  
Etan Z. Zimmer ◽  
Shraga Blazer
Keyword(s):  
Ultrasound Examination ◽  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Ultrasound

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.

OC127: Increased nuchal translucency and distended jugular lymphatic sacs by first-trimester ultrasound

2004 ◽  
Vol 24 (3) ◽  
pp. 250-251
Author(s):  
M. Bekker ◽  
M. C. Haak ◽  
M. Rekoert-Hollander ◽  
J. Twisk ◽  
J. M. G. van Vugt
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Monozygotic Twins Discordant for Trisomy 13

2017 ◽  
Vol 20 (4) ◽  
pp. 340-347 ◽  
Author(s):  
Patrick McFadden ◽  
Sarah Smithson ◽  
Robert Massaro ◽  
Jialing Huang ◽  
Gail T Prado ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Monozygotic Twins ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ultrasound Finding ◽  
Umbilical Cord Cyst ◽  
First Trimester Ultrasound ◽  
Mosaic Trisomy ◽  
Increased Nuchal Translucency

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surviving twin will be monitored for potential complication of uniparental disomy 13 and mosaic trisomy 13. This case reinforces the need for early ultrasound and nuchal translucency measurements, especially in twin gestations.

scholarly journals Early Prediction of Twin-to-Twin Transfusion Syndrome with the use of First Trimester Ultrasound Markers: Is it Possible?

2013 ◽  
Vol 7 (1) ◽  
pp. 66-72
Author(s):  
Panagiotis Antsaklis ◽  
Marianna Theodora ◽  
Aristides Antsaklis ◽  
Vasileios Pergialiotis ◽  
Vasileios Papazefkos
Keyword(s):  
Prospective Studies ◽  
Obstet Gynecol ◽  
Reference Lists ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Early Prediction ◽  
Crown Rump Length ◽  
Assisted Reproduction Techniques ◽  
First Trimester Ultrasound

ABSTRACT Background The incidence of multifetal gestation and particularly of twin pregnancy has raised as a result of the introduction of assisted reproduction techniques (ART). Twinto- twin transfusion syndrome (TTTS) is a serious complication observed in monochorionic pregnancies producing severe morbidity and ultimately resulting in loss of one or all fetuses. We assessed the potential of early prediction of TTTS among three markers screened early in pregnancy [nuchal translucency (NT)] and its discrepancy and discordance, crown-rump length (CRL) and its discrepancy and discordance among twins and ductus venosus (DV) Doppler abnormalities. Materials and methods We conducted a systematic review searching Medline (1966-2011) and Scopus (2004-2011) engines, as well as reference lists from all included studies. Twelve studies were finally enrolled in the present review, including seven prospective studies, three prospective studies and one that could not be defined either as prospective or retrospective. Conclusion It seems that DV Doppler may denote this syndrome's possible future development and should be assessed early in monochorionic pregnancies. Further studies are definitely needed in order to evaluate the place of CRL and NT discrepancy and discordance in predicting TTTS. How to cite this article Antsaklis A, Pergialiotis V, Theodora M, Papazefkos V, Antsaklis P. Early Prediction of Twin-to-Twin Transfusion Syndrome with the use of First Trimester Ultrasound Markers: Is it Possible? Donald School J Ultrasound Obstet Gynecol 2013;7(1):66-72.

scholarly journals Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 986
Author(s):  
Gerardo Sepúlveda-González ◽  
Tayde Arroyo-Lemarroy ◽  
David Basurto ◽  
Ivan Davila ◽  
Esteban Lizárraga-Cepeda ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Nasal Bone ◽  
Case Series ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Head ◽  
Intracranial Translucency ◽  
Spina Bifida Aperta ◽  
First Trimester Ultrasound

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks′ gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs.

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