How Effective Is First-Trimester Screening for Trisomy 21 Based on Ultrasound Only?
| Autor: | Marcin Wiecheć, Emilia Latała, Magdalena Juszczak, Ewa Wiercinska, Agnieszka Nocun, Anna Matyszkiewicz, Anna Knafel |
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| Rok vydání: | 2015 |
| Předmět: |
Embryology
Down syndrome medicine.medical_specialty Aneuploidy Statistics Nonparametric Ultrasonography Prenatal Nuchal translucency Pregnancy medicine Humans Radiology Nuclear Medicine and imaging Prospective Studies Prospective cohort study Fetus business.industry Obstetrics Ultrasound Obstetrics and Gynecology General Medicine medicine.disease Pregnancy Trimester First First trimester Pediatrics Perinatology and Child Health Female Down Syndrome business Trisomy |
| Zdroj: | Fetal Diagnosis and Therapy. 39:105-112 |
| ISSN: | 1421-9964 1015-3837 |
| DOI: | 10.1159/000434632 |
| Popis: | Objective: To evaluate the most common first-trimester ultrasound features of fetuses with trisomy 21 (T21) and to examine the screening performance for Down syndrome (DS) using only ultrasound-based protocols. To investigate whether maternal age (MA) has an impact on the efficacy of the ultrasound-based screening methods. Methods: In a prospective study, 6,265 patients were examined. Two ultrasound-based risk calculation protocols were applied: ‘NT' (based on nuchal translucency) and ‘NT+' (based on NT and secondary markers). Results: A total of 5,696 patients were enrolled for analysis; 84 subjects with T21 were identified. Combinations of abnormal ultrasound markers were observed in only 1.2% of euploid fetuses compared to 71.5% of fetuses with T21. Among 17.9% of DS cases with cardiac anomaly, 14.3% comprised atrioventricular septal defects. For a false-positive rate of 3%, the detection rates of T21 were 73.8 and 91.7% for the ‘NT' and ‘NT+' protocols, respectively. The efficacy of both methods was affected by MA. Conclusions: Most of the fetuses with DS demonstrate a combination of ultrasound markers of aneuploidy in the first trimester. The ‘NT+' protocol is efficient and provides comparable performance as a combined screening test. It is a valuable method, especially when the access to biochemical analysis is restricted. |
| Databáze: | OpenAIRE |
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