What is it about?
is the world's first examination of the effectiveness of trisomy 18 screening based on the algorithm specific for trisomy 18 and prepared by the FMF, but without using biomarkers.
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Why is it important?
This is the first work to confirm the high effectiveness of trisomy 18 screening using the independent multi-parameter ultrasound and the assessment of individual risk according to the algorithm FMF without the use of biomarkers. This method can be considered as an alternative to the combined screening. The results of this work are essential to prenatal diagnosis centres, particularly in the field of aneuploidy screening of patients with a potential risk of false positive combined screening results as a consequence of the biochemical component, such as diabetes, kidney disease, the use of assisted reproduction techniques, or multiple pregnancy.
Perspectives
We should also take into account the importance of this work at this time of transformation of combined screening-based screening to the screening using NIPT in the first line. Because of the high proportion of cases with the low PAPP-A levels having the small weight of the placenta, trisomy 18 is at the risk of failure in NIPT determination of approx. 8% (Revello et al. 2016). The high specificity multi-parameter ultrasound does not have this drawback.
Dr. Marcin Wiechec
Jagiellonian University in Krakow
Read the Original
This page is a summary of: How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?, Journal of Perinatal Medicine, January 2016, De Gruyter,
DOI: 10.1515/jpm-2014-0384.
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