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
| Autor: | Anna Matyszkiewicz, Michał Kołodziejski, Ewa Wiercinska, Marcin Pasternok, Marcin Wiecheć, Agnieszka Nocun, Bartosz Rajs |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Heart Defects Congenital medicine.medical_specialty Trisomy 13 Syndrome Aneuploidy Nervous System Malformations Risk Assessment Ultrasonography Prenatal 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis medicine Humans Abnormalities Multiple 030212 general & internal medicine Prospective Studies Prospective cohort study 030219 obstetrics & reproductive medicine business.industry Single umbilical artery Obstetrics Ultrasound Obstetrics and Gynecology Reproducibility of Results Odds ratio medicine.disease Pregnancy Trimester First Pediatrics Perinatology and Child Health Female False positive rate business Trisomy Ductus venosus Maternal Age |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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