scholarly journals Frontomaxillary Facial Angle Measurement in Screening for Trisomy 18 at 11 + 0 to 13 + 6 Weeks of Pregnancy: A Double-Centre Study

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Bartosz Czuba ◽  
Wojciech Cnota ◽  
Agata Wloch ◽  
Piotr Wegrzyn ◽  
Krzysztof Sodowski ◽  
...  
Keyword(s):  
Final Analysis ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Angle Measurement ◽  
Trisomy 18 ◽  
Crown Rump Length ◽  
Beta Hcg ◽  
Large Populations ◽  
Trimester Screening ◽  
Independent Marker

Objective. The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement.Material and Methods. The study involved 1751 singleton pregnancies at 11–13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis.Results. Highly significant (P<0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P<0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80–85% and FPR 0.3–0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3–93.3% and FPR 0.8–1.3%).Conclusions. The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations.

scholarly journals First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level

2017 ◽  
Vol 14 (1) ◽  
pp. 1-7
Author(s):  
Da Eun Lee ◽  
Shin Young Kim ◽  
Hyun Jin Kim ◽  
So Yeon Park ◽  
Min Hyoung Kim ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
First Trimester Screening ◽  
Epigenetic Marker ◽  
Trimester Screening ◽  
Marker Level

scholarly journals P06.11: Evaluation of PAPP-A and free beta hCG in enlarged nuchal translucency: benefit in first trimester screening

2012 ◽  
Vol 40 (S1) ◽  
pp. 192-192
Author(s):  
L. Barbacane ◽  
F. D'Antonio ◽  
E. Colantuono ◽  
F. Miglietta ◽  
B. Matarrelli ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Beta Hcg ◽  
Trimester Screening

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.

Lack of correlation between first trimester maternal serum 25-hydroxyvitamin D levels and ultrasound measured crown-rump length and nuchal translucency

2011 ◽  
Vol 284 (6) ◽  
pp. 1585-1588 ◽  
Author(s):  
Ana M. Fernández-Alonso ◽  
Gabriel Fiol-Ruiz ◽  
Peter Chedraui ◽  
Faustino R. Pérez-López
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Crown Rump Length ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D
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