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Last Posted: Aug 04, 2022
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Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
L Lanoo et al, EJHG, July 27, 2022

Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other “rare” autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common trisomies in the large population-based studies. Large prospective studies and clear clinical guidelines are lacking to provide adequate counseling and management to those who are confronted with a RAT as a healthcare professional or patient.

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket Bart S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 7

We recommend the following considerations for each clinical scenario. For prenatal testing, performing comparative analyses of costs of ES strategies and postpartum care, as well as genetic diagnoses and pregnancy outcomes. For early diagnosis in pediatrics, modeling quality-adjusted life years (QALYs) and costs over =20 years for rapid turnaround GS/ES. For hereditary cancer syndrome testing, modeling cumulative costs and QALYs for the individual tested and first/second/third-degree relatives. For tumor profiling, not restricting to treatment uptake or response and including QALYs and costs of downstream outcomes. For screening, modeling lifetime costs and QALYs and considering consequences of low penetrance and GS/ES reanalysis.

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
NC Rose et al, Genetics in Medicine, May 23, 2022

A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (=99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare. NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.

Polygenic embryo testing: understated ethics, unclear utility
J Johnston, Nature Medicine, March 21, 2022

New technologies are expanding the reach and accessibility of preimplantation genetic testing of human embryos. But what these advances can deliver is still unclear, and a frank assessment of their profound ethical implications is urgently needed.

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