On heuristic detection of maternal-age-related increase of birth defect risk: Experience, issues, alternatives

0544801 - ÚI 2022 FR eng A - Abstrakt
Klaschka, Jan - Malý, Marek - Šípek, A.
On heuristic detection of maternal-age-related increase of birth defect risk: Experience, issues, alternatives.
ISCB 2021: 42nd Annual Conference of the International Society for Biostatistics: Final Programme & Book of Abstracts. Lyon: ISCB / University Lyon, 2021. s. 269-269.
[ISCB 2021: Annual Conference of the International Society for Biostatistics /42./. 18.07.2021-22.07.2021, Lyon]
Institucionální podpora: RVO:67985807

One of the focuses of our research is detection of increased congenital anomaly (birth defect) risk related to high or low maternal age. The size and onset of the increase depend on the anomaly type. When events (anomalies) are frequent and the risk increase is big and takes place far from the age scale ends, joinpoint Poisson regression, for instance, may be a right choice. It fits well, for example, Czech 2013 – 2017 Down syndrome data (on both born children and terminated pregnancies), where it shows a consistent risk increase along the entire age scale, first slow, and accelerated since the age of 32. Such methods may, nevertheless, fail for rare anomalies with a moderate risk increase at age close to extremes. For such situations, we have designed, and presented at ISCB 2020 [1] a heuristic method. Each year on the age scale splits the scale into two opposite tails. Risks in the two tails are compared by relative risk (RR) and Fisher test. The attribute of suspect risk increase belongs to a tail if it yields RR over 2 and significant unadjusted Fisher test, or is nested within such tail. A stronger attribute of verified risk increase is given to tails with the former attribute that are nested within a tail with significant Bonferroni-adjusted Fisher test. A new alternative method variant compares all tails with a common reference age interval from the lower to the upper quartile. (Considered are tails disjoint with the interval.) Otherwise, the definitions of suspect and verified risk increase remain the same. Numerical differences between the two method variants on real data are minor. For example, the former variant finds a verified risk increase at 18 or less years, and the new one at 19 or less in the 1992 – 2016 anencephaly incidence. Both variants assess equally the risk increase from 42 years as suspect. The new variant is, however, more logically consistent, as it always transforms, unlike the former one, monotone risk by age curves into monotone RR by age curves.
Trvalý link: http://hdl.handle.net/11104/0321607