Ultrasound findings after screening for down syndrome using the integrated test

Boaz Weisz*, Pranav P. Pandya, Anna L. David, Wayne Huttly, Patricia Jones, Charles H. Rodeck

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1046-1052
Number of pages7
JournalObstetrics and Gynecology
Volume109
Issue number5
DOIs
StatePublished - May 2007
Externally publishedYes

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