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Updated: Oct 19, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Maternal selenium levels and whole genome screen in recurrent spontaneous preterm birth population: A nested case
Angharad G Care1, Juhi K Gupta2, Laura Goodfellow1
1Harris Wellbeing Preterm Birth Research Centre, Department of Women's and Children's Health, University of Liverpool, Liverpool Women's Hospital, Liverpool, United Kingdom.
Objective:
To establish if low maternal selenium (Se) was associated with sPTB in women with recurrent sPTB and identify genetic link with maternal Se levels.
Design:
Nested case-control study.
Setting:
Tertiary Maternity Hospital.
Population:
Plasma and whole blood from pregnant women with history of early sPTB/PPROM < 34+0 and European ancestry were obtained at 20 weeks (range 15-24 weeks). 'Cases' were recurrent PTB/PPROM < 34+0 weeks and term (≥37+0) deliveries were classified as 'high-risk controls.' Women with previous term births and index birth ≥ 39 weeks were 'low-risk controls'.
Methods:
Maternal plasma Se measured by ICP-MS was used as a continuous phenotype in a GWAS analysis. Se was added to a logistic regression model using PTB predictor variables.
Main Outcome Measures:
Maternal Se concentration, recurrent early sPTB/PPROM.
Results:
53/177 high-risk women had a recurrent sPTB/PPROM < 34+0weeks and were 2.7 times more likely to have a Se level < 83.3 ppm at 20weeks of pregnancy compared with low-risk term controls (n = 179), (RR 2.7, 95%CI 1.5-4.8; p = .001). One SNP from a non-coding region (FOXN3 intron variant, rs55793422) reached genome-wide significance level (p = 3.73E-08). Targeted analysis of Se gene variant did not show difference between preterm and term births. (χ2 test, OR = 0.95; 95%CI = 0.59-1.56; p = 0.82). When Se levels were added to a clinical prediction model, only an additional 5% of cases (n = 3) and 0.6% (n = 1) of controls were correctly identified.
Conclusions:
Low plasma Se is associated with sPTB risk but is not sufficiently predictive at individual patient level. We did not find a genetic association between maternal Se levels and Se-related genes.

