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
Author:
Rajs Bartosz1ORCID, Nocuń Agnieszka2ORCID, Matyszkiewicz Anna12, Pasternok Marcin3, Kołodziejski Michał1, Wiercińska Ewa4, Wiecheć Marcin12ORCID
Affiliation:
1. Department of Gynecology and Obstetrics , Jagiellonian University in Krakow , Krakow , Poland 2. Ultrasound Group Practice “MWU DOBREUSG” , Krakow , Poland 3. Center for Prenatal Diagnostics , Opole , Poland 4. Voivodship Sanitary-Epidemiological Station in Krakow , Krakow , Poland
Abstract
Abstract
Objectives
To 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.
Publisher
Walter de Gruyter GmbH
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
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