First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

2015 ◽  
Vol 36 (S 01) ◽  
Author(s):  
KO Kagan ◽  
M Hoopmann ◽  
P Wagner ◽  
H Abele
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
First Trimester Ultrasound

First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment

2017 ◽  
Vol 37 (7) ◽  
pp. 680-685 ◽  
Author(s):  
Philipp Wagner ◽  
Jiri Sonek ◽  
Jessika Klein ◽  
Markus Hoopmann ◽  
Harald Abele ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
First Trimester Ultrasound

The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities

2018 ◽  
Vol 40 (06) ◽  
pp. 743-748
Author(s):  
Ismail Tekesin
Keyword(s):  
Turner Syndrome ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
Crown Rump Length ◽  
First Trimester Ultrasound

Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out. Performance of these markers was assessed by logistic regression and ROC analyses for different screening models. Results 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70–100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 % with trisomy 21 had at least one fetal defect. Considering all aneuploidies, the detection rate (DR) for screening based on MA+NT+NB+TV+DV was 90.6 % and improved to 96.0 % if an FA was added (fixed false-positive rate: 3 %). If screening was based on MA+NT+FA, the detection rate for all aneuploidies was 85.2 %. However, the DR for trisomy 18, trisomy 13, triploidy and Turner syndrome (excluding trisomy 21) was 94.6 %, indicating the high diagnostic value of an anomaly scan for these aneuploidies. Conclusion Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome.

scholarly journals First Trimester Ultrasound Screening: An Update

2010 ◽  
Vol 4 (2) ◽  
pp. 97-116 ◽  
Author(s):  
JD Sonek ◽  
M Glover ◽  
M Zhou ◽  
KH Nicolaides
Keyword(s):  
Gestational Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Great Promise ◽  
Ultrasound Screening ◽  
Detection Rates ◽  
Crown Rump Length

Abstract For many years, the main use of ultrasound in the first trimester of pregnancy was to confirm viability and to establish gestational age. Indeed, the crown-rump length measurement in the first trimester remains the most accurate method to estimate the gestational age even today. However, improvements in ultrasound equipment and improvement in our understanding of normal and abnormal fetal development allows us now to perform a much more complete first trimester fetal evaluation. This pertains not only to the diagnosis of fetal anomalies but also to screening for fetal defects. The combination of the nuchal translucency measurement and maternal serum biochemistries (free β-hCG and PAPP-A) has been shown to be an extremely efficient way to screen for fetal aneuploidy. The addition of other first trimester markers such as the nasal bone evaluation, frontomaxillary facial angle measurement, and Doppler evaluation of blood flow across the tricuspid valve and through the ductus venosus improves the screening performance even further by increasing the detection rates and decreasing the false positive rates. Several of the first trimester markers also are useful in screening for cardiac defects. Furthermore, significant nuchal translucency thickening has been associated with a variety of genetic and nongenetic syndromes. A recently described first trimester marker called the intracerebral translucency appears to hold great promise in screening for open spine defects. Finally, it appears that a first trimester evaluation (uterine artery Doppler and the measurement of certain biochemical markers in the maternal serum) significantly improves the assessment of the risk of preeclampsia.

scholarly journals First trimester ultrasound screening of chromosomal abnormalities

2007 ◽  
Vol 135 (3-4) ◽  
pp. 153-156 ◽  
Author(s):  
Aleksandra Trninic-Pjevic ◽  
Aleksandra Novakov-Mikic
Keyword(s):  
Maternal Age ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ultrasound Screening ◽  
Positive Rate ◽  
Chromosomal Defects ◽  
First Trimester Ultrasound

Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT). Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF), was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age) and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down?s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Bartosz Rajs ◽  
Agnieszka Nocuń ◽  
Anna Matyszkiewicz ◽  
Marcin Pasternok ◽  
Michał Kołodziejski ◽  
...  
Keyword(s):  
Heart Defects ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Patau Syndrome ◽  
A Prospective Study ◽  
Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

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