1. Comparison of noninvasive prenatal screening with combined first‐trimester screening as a frontline screening approach for common trisomies in a public hospital in Australia.
- Author
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Battese Ellis, Katie, Sathasivam, Nalayin, Bonifacio, Michael, and Benzie, Ronald
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BIOMARKERS , *PRENATAL diagnosis , *FIRST trimester of pregnancy , *DOWN syndrome , *MEDICAL screening , *COST control , *GESTATIONAL age , *COMPARATIVE studies , *CHROMOSOME abnormalities , *PUBLIC hospitals , *TRISOMY 18 syndrome , *DESCRIPTIVE statistics , *RESEARCH funding , *EXTRACELLULAR space , *LONGITUDINAL method , *FETAL ultrasonic imaging , *NUCLEIC acids - Abstract
Background: Combined first‐trimester screening (cFTS) for fetal anomalies involves maternal serum screening for biochemical markers and measurement of the nuchal translucency (NT) by ultrasound. Noninvasive prenatal screening (NIPS) analyses cell‐free DNA present in a maternal blood sample for presence of fetal chromosomal aneuploidies. Aims: To compare NIPS with cFTS as frontline screening in a public hospital in Australia. Materials and methods: Women were offered NIPS in addition to the usual cFTS routinely offered to all women at a public hospital in NSW, Australia. The cFTS sample was collected at ten weeks' gestation and the NIPS sample at 12 weeks' gestation at the ultrasound appointment. Results: In a low‐risk population of 997 women, frontline NIPS had a screen‐positive rate of 0.5% (5/997) vs 4.2% (42/997) with cFTS. cFTS correctly identified one trisomy 21 case and one trisomy 18 case; however, there were two trisomy 18 false negatives. Of five positive NIPS calls, four were correctly identified as trisomy 21 (one) and trisomy 18 (three); there were no NIPS false negatives. Overall, the false‐positive rate with NIPS was 0.1% vs 4.0% by cFTS. Conclusions: The lower screen‐positive rate with NIPS for common trisomies was a result of the significantly lower false‐positive rate with NIPS. Consequently, NIPS as first‐line screening, even if funded by the hospital, may provide cost savings. We believe NIPS should be used from ten weeks' gestation in conjunction with morphology ultrasound for routine first‐trimester prenatal management. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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