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

2015 ◽  
Vol 35 (12) ◽  
pp. 1182-1186 ◽  
Author(s):  
Harald Abele ◽  
Philipp Wagner ◽  
Jiri Sonek ◽  
Markus Hoopmann ◽  
Sara Brucker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
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

P17.03: First trimester biochemical screening combined with fetal nuchal translucency, nasal bone and maternal age for Down syndrome in singelton pregnancies

2010 ◽  
Vol 36 (S1) ◽  
pp. 234-234
Author(s):  
K. Natasa ◽  
Z. Mikovic ◽  
M. Marinkovic ◽  
B. Damnjanovic-Pazin ◽  
Z. Milovanovic ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Biochemical Screening

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. .

scholarly journals First Trimester Genetic Sonogram for Screening Fetal Down Syndrome: a Population-based Study

2020 ◽  
Author(s):  
Kuntharee Traisrisilp ◽  
Supatra Sirichotiyakul ◽  
Fuanglada Tongprasert ◽  
Kasemsri Srisupun ◽  
Suchaya Luewan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Positive Rate

Abstract Background: To evaluate the performance of first trimester sonomarkers in the detection of fetal Down syndrome among Thai pregnant womenMethods: Pregnant women at 11-13+6 weeks’ gestation underwent ultrasound examination for assessment of nuchal translucency (NT), nasal bone (NB), tricuspid regurgitation (TR), and abnormal ductus venosus (aDV) Doppler waveforms. The women were followed up for final outcomes. Fetal abnormalities other than trisomy 21 were excluded. The performances of each sonomarker and their combinations in predicting fetal Down syndrome were calculated.Results: A total of 7,820 pregnant women meeting the inclusion criteria were available for analysis, including 20 cases with fetal Down syndrome and 7,800 unaffected cases. Of the four sonomarkers, NT, as a single sonomarker, had the highest detection rate (55.0% at a false positive rate of about 5%), whereas the remaining single sonomarkers had low detection rate (15-20%). The combination of all sonomarkers had the highest detection rate of 70% but the false positive rate was as high as 10.8%. The combination of NT and NB had a detection rate of 60% with an acceptable false positive rate of 6.9%, whereas the other combinations yielded relatively high false positive rates. Conclusion: The first trimester genetic sonogram in screening for Down syndrome among Asian women is acceptably effective and may be offered to some selected groups of the population. NT is the best sonomarker with a detection rate of 55% at 5% false positive rate and its combination with NB can improve performance with minimal increase in false positive rate.

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.

scholarly journals Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

2009 ◽  
Vol 3 (2) ◽  
pp. 10-17 ◽  
Author(s):  
Mónica Echevarria ◽  
Carmen Comas ◽  
M Angeles Rodríguez ◽  
Joan Nicolau ◽  
Bernat Serra ◽  
...  
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Serum Biochemistry ◽  
Screening Strategy ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Early Evaluation ◽  
Invasive Test ◽  
Screening Efficiency

ABSTRACT Objective To estimate the improvement in screening efficiency when ductus venosus (DV) Doppler studies are added to existing Down syndrome (DS) screening protocols. Methods First-trimester combined screening for trisomy 21 was prospectively carried out, from October 2003 to March 2008, in 8842 consecutive singleton pregnancies attended in our tertiary reference center. The nuchal translucency (NT) and the pulsatility index for veins for DV were calculated. The maternal serum biochemistry was measured using the Kryptor analyzer, at the same time of the scan (one step strategy) or before it (two step strategy). The detection rate (DR) and false-positive rates for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated. Results Successful DV assessment was possible in the 95.3% of cases, representing a total of 8426 cases. Down syndrome was identified in 34 pregnancies (prevalence of DS 1:250). For a fixed screen positive rate of 5%, the addition of the DV assessment improves the DR from 85 to 94% and, for a fixed DR of 85%, it reduces the number of unnecessary invasive tests from 3.7 to 3.2%. Conclusion Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level test to reduce invasive test rate derived from the existing protocols.

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