Boaz Weisz1, Pranav P Pandya, Anna L David, Wayne Huttly, Patricia Jones, Charles H Rodeck. 1. Department of Obstetrics and Gynaecology, University College London and Wolfson Institute of Preventive Medicine, St. Bartholomew's and Royal London School of Medicine and Dentistry, London, United Kingdom.boazmd@zahav.net.il
Abstract
OBJECTIVE: To evaluate the incidence and significance of fetal anomalies and "soft markers" after screening for Down syndrome using the integrated test. METHODS: This study is a retrospective study of 2,332 women at University College London Hospitals, United Kingdom. All women were screened for Down syndrome by the integrated test. Subsequently, a detailed anomaly scan was performed. All scan reports and screening results were analyzed statistically using SPSS 11.0 software. RESULTS: Sixty-eight (2.9%) patients were categorized as high risk. There were 12 cases affected by Down syndrome, 10 (10 of 68) in the high-risk group and two (two of 2,264) in the low-risk group. Soft markers or structural anomalies were found in 13.0% of the low-risk group, in 29.4% of the high-risk group, and in 50% of the fetuses affected by Down syndrome. Multiplying the likelihood ratio of each marker with the risk of Down syndrome from the integrated test reduced the false-positive rate of the integrated test from 2.5% to 1.8%, but was accompanied by a reduction in the detection rate from 83% to 75%. CONCLUSION: Absence of structural anomalies or markers should not prevent offering karyotyping to women in the high-risk group, because this would result in a significant reduction in the detection rate of Down syndrome. Women screened as low risk by the integrated test who have isolated soft markers should not be offered an amniocentesis.
OBJECTIVE: To evaluate the incidence and significance of fetal anomalies and "soft markers" after screening for Down syndrome using the integrated test. METHODS: This study is a retrospective study of 2,332 women at University College London Hospitals, United Kingdom. All women were screened for Down syndrome by the integrated test. Subsequently, a detailed anomaly scan was performed. All scan reports and screening results were analyzed statistically using SPSS 11.0 software. RESULTS: Sixty-eight (2.9%) patients were categorized as high risk. There were 12 cases affected by Down syndrome, 10 (10 of 68) in the high-risk group and two (two of 2,264) in the low-risk group. Soft markers or structural anomalies were found in 13.0% of the low-risk group, in 29.4% of the high-risk group, and in 50% of the fetuses affected by Down syndrome. Multiplying the likelihood ratio of each marker with the risk of Down syndrome from the integrated test reduced the false-positive rate of the integrated test from 2.5% to 1.8%, but was accompanied by a reduction in the detection rate from 83% to 75%. CONCLUSION: Absence of structural anomalies or markers should not prevent offering karyotyping to women in the high-risk group, because this would result in a significant reduction in the detection rate of Down syndrome. Women screened as low risk by the integrated test who have isolated soft markers should not be offered an amniocentesis.
Authors: Kjersti M Aagaard-Tillery; Fergal D Malone; David A Nyberg; T Flint Porter; Howard S Cuckle; Karin Fuchs; Lisa Sullivan; Christine H Comstock; George R Saade; Keith Eddleman; Susan Gross; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Diana W Bianchi; Mary E D'Alton Journal: Obstet Gynecol Date: 2009-12 Impact factor: 7.661
Authors: Elisabeth Wrede; Alexander Johannes Knippel; Pablo Emilio Verde; Ruediger Hammer; Peter Kozlowski Journal: Ultrasound Int Open Date: 2020-03-09