Publications by authors named "Janneke M Weiss"
Pregnant women's perspectives should be included in the dialogue surrounding the expanding offers of non-invasive prenatal testing (NIPT), especially now that technological possibilities are rapidly increasing. This study evaluated women's experiences with the offer of genome-wide (GW) first-tier NIPT in a national screening program. A nationwide pre-and post-test questionnaire was completed by 473 pregnant women choosing between targeted NIPT (trisomies 21, 18 and 13 only) and GW-NIPT (also other findings) within the Dutch TRIDENT-2 study.
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- * Conducted on women who had a low FF result (<4%) in a nationwide screening program, the study found that these women had higher rates of conditions like pregnancy-induced hypertension and gestational diabetes compared to the general population.
- * The authors concluded that low FF is linked to negative pregnancy outcomes, but further research is needed to confirm its predictive value for these risks.
A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form.
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