Investigation of ultrasound markers in screening fetal trisomy 21

OBJECTIVE: To investigate the clinical value of ultrasound markers in screening fetal trisomy 21. METHODS: From Jan. 2001 to Dec. 2011, a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University. All fetuses were divided into 3 groups: isolated ultrasound markers, non-isolated ultrasound markers, and isolated structural malformations or other abnormalities. The relationship between trisomy 21 and ultrasound markers as well as structural anomalies or other abnormalities was analyzed. RESULTS: Sonographic anomalies were detected in 132 fetuses (95.7%, 132/138), including ultrasound markers and structural malformations or other abnormalities. One hundred and twenty cases (87.0%, 120/138) had ultrasound markers, 38 (31.7%, 38/120) had one marker and 82 (68.3%, 82/120) had more than one marker (P < 0.01). Fifty-one fetuses (37.0%, 51/138) had isolated ultrasound markers and non-isolated markers were found in 69 fetuses (50.0%, 69/138). Only 12 fetuses (8.7%, 12/138) had isolated structural malformations or other abnormalities. In 20 fetuses on whom the first-trimester ultrasound screening were performed, all had ultrasound markers, 95% (19/20) had thickened nuchal translucency and 55% (11/20) had nasal bone hypoplasia. The most common ultrasound markers on the second-trimester screening were nasal bone hypoplasia, which accounted for 41.9% (52/124) cases, followed by thickened nuchal fold (25.0%, 31/124), short femurs and humerus (24.2%, 30/124), echogenic intracardiac focus (16.1%, 20/124), mild ventriculomegaly (15.3%, 19/124), hyperechoic bowel (12.9%, 16/124), mild renal pyelectasis (12.1%, 15/124). Furthermore, the common structural malformations or other abnormalities were as follows: cardiac defects (33.1%, 41/124), digestive system (26.6%, 33/124). CONCLUSIONS: Ultrasound markers are valuable for screening fetal trisomy 21. The fetuses of trisomy 21 usually had more than one ultrasound markers or associated with other abnormalities. Combinations of ultrasound markers with the results of serum screening and maternal age are necessary for evaluation.