Integration of nuchal translucency screening into the first‐trimester fetal anatomy scan: the time has come

2021 ◽  
Vol 57 (1) ◽  
pp. 29-31
Author(s):  
S. Yagel
Keyword(s):  
First Trimester ◽  
Nuchal Translucency

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 P04.06: 3D assessment of the nuchal translucency and the fetal anatomy in the first trimester of pregnanacy

2010 ◽  
Vol 36 (S1) ◽  
pp. 181-181
Author(s):  
P. K. Hiridis ◽  
M. Theodora ◽  
E. Anastasakis ◽  
K. Blanas ◽  
G. Daskalakis ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness

2006 ◽  
Vol 26 (4) ◽  
pp. 369-372 ◽  
Author(s):  
Richard Kharrat ◽  
Masami Yamamoto ◽  
Joelle Roume ◽  
Sophie Couderc ◽  
Francois Vialard ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Cystic Hygroma

scholarly journals Four years experience of first-trimester nuchal translucency screening for fetal aneuploidies with increasing regional availability

2001 ◽  
Vol 80 (12) ◽  
pp. 1104-1109 ◽  
Author(s):  
Kornélia Wayda ◽  
Attila Keresztúri ◽  
Hajnalka Orvos ◽  
Emese Horváth ◽  
Attila PÁl ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Aneuploidies

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.

Four Years' Experience With an Interlaboratory Comparison Program Involving First-Trimester Markers of Down Syndrome

2010 ◽  
Vol 134 (11) ◽  
pp. 1685-1691
Author(s):  
Glenn E. Palomaki ◽  
George J. Knight ◽  
Geralyn Lambert-Messerlian ◽  
Jacob A. Canick ◽  
James E. Haddow
Keyword(s):  
Down Syndrome ◽  
Chorionic Gonadotropin ◽  
Plasma Protein ◽  
Human Chorionic Gonadotropin ◽  
Interlaboratory Comparison ◽  
Protein A ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Second Trimester ◽  
Coefficients Of Variation

Abstract Context.—We initiated a voluntary, self-funded interlaboratory comparison program in the fall of 2005 because no proficiency testing program was available to laboratories in North America offering first-trimester, combined serum and ultrasound, Down syndrome screening. Objectives.—To evaluate the first 4 years of the interlaboratory comparison program against stated goals, to identify areas of concern, and to create new initiatives as indicated. Design.—Five serum samples are distributed 3 times a year to be tested for pregnancy-associated plasma protein A, human chorionic gonadotropin or its β subunit, and dimeric inhibin-A; participants convert these results into multiples of the median. Patient histories include nuchal translucency information that enables the calculation of the risk of Down syndrome. Also included are educational components linked to interlaboratory comparison program results. Assessment of integrated (first- and second-trimester markers) risks is accomplished by having participants combine interlaboratory comparison program results with their results from a second-trimester proficiency testing program administered by the College of American Pathologists. Results.—The precision profile for pregnancy-associated plasma protein A shows decreasing coefficients of variation with increasing pregnancy-associated plasma protein A concentrations and multiples of the median (25% to 11% and 30% to 15%, respectively). In contrast, coefficients of variation are a relatively constant 12% throughout the entire range of human chorionic gonadotropin results. On a logarithmic scale, the median coefficient of variation of the risk of Down syndrome is 9%. Conclusions.—Participants in the interlaboratory comparison program reliably measure analytes, compute multiples of the median, and calculate consistent Down syndrome risks. Assays for the measurement of pregnancy-associated plasma protein A are not standardized and are less precise than those for human chorionic gonadotropin. Participants calculate reliable median equations given sonographer-specific sets of paired crown-rump length and nuchal translucency measurements.

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