First-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18

2003 ◽  
Vol 23 (3) ◽  
pp. 248-251 ◽  
Author(s):  
Po-Jen Cheng ◽  
Ching-Ming Liu ◽  
Ho-Yen Chueh ◽  
Chien-Ming Lin ◽  
Yung-Kwei Soong
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Prenatal Detection ◽  
Nuchal Translucency Measurement

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 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.

scholarly journals Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

2013 ◽  
Vol 7 (4) ◽  
pp. 359-368 ◽  
Author(s):  
Tamara Illescas ◽  
Waldo Sepulveda ◽  
Begona Adiego ◽  
Pilar Martinez-Ten
Keyword(s):  
Fetal Brain ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ultrasound Screening ◽  
Second Trimester ◽  
Fetal Anomalies ◽  
Prenatal Detection ◽  
Ultrasound Findings ◽  
First Trimester Of Pregnancy ◽  
Structural Anomalies

ABSTRACT In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy. How to cite this article Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.

How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?

2016 ◽  
Vol 44 (2) ◽  
Author(s):  
Marcin Wiechec ◽  
Anna Knafel ◽  
Agnieszka Nocun ◽  
Anna Matyszkiewicz ◽  
Ewa Wiercinska ◽  
...  
Keyword(s):  
Heart Defects ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Fetal Demise ◽  
Screening Performance ◽  
Cardiac Evaluation ◽  
Study Population ◽  
A Prospective Study

AbstractTrisomy 18 (T18) remains the second most common aneuploidy. It is associated with multiple congenital anomalies and causes intrauterine fetal demise in the most severe cases.To examine the screening performance of ultrasound-based protocols for detecting T18, we aimed to determine the most common signs and their prevalence in fetuses with T18 to develop logistic regression model.This was a prospective study based on singleton pregnancies examined at gestation 11+0 to 13+6. The referrals constituted 6210 patients. Scan protocol enclosed a systematic review of the entire early fetal anatomy, including fetal cardiac evaluation and sonographic signs of aneuploidy.Our study population comprised 5650 pregnancies: 5613 cases with a normal karyotype and 37 cases with T18. The mean nuchal translucency (NT) thickness in the subgroup of euploidy was 1.7 and in the subgroup of T18 it was 5.4. No statistically significant differences were found in terms of maternal age. One case of T18 (2.7%) demonstrated no markers of aneuploidy as opposed to 5111 cases of euploidy (91.1%). Extracardiac malformations were identified in 13 cases of T18 (35.1%) and in 48 cases of euploidy (0.8%). Congenital heart defects were observed in 26 cases of T18 (70.3%) and in 27 cases of euploidy (0.5%).Our results showed good screening performance of ultrasound-based risk calculation models. When the first trimester pattern of T18 is considered, an increased NT, tricuspid regurgitation, single umbilical artery, omphalocele and right dominant heart should be specifically searched for.

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