Non-invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins

The screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance of NIPT for trisomy 21, 18, 13, sex chromosomes and additional findings in pregnancies with a VT were retrieved from a literature search with a publication date until October 4, 2022. The methodological quality of the studies was assessed with the quality assessment tool for diagnostic accuracy studies-2 (QUADAS-2). The screen positive rate of the pooled data and the pooled positive predictive value (PPV) were calculated using a random effects model. Seven studies, with cohort sizes ranging from 5 to 767, were included. The screen positive rate of the pooled data for trisomy 21 was 35/1592 (2.2%), with a PPV of 20% (confirmation in 7/35 cases [95% CI 9.8%–36%]). For trisomy 18, the screen positive rate was 13/1592 (0.91%) and the pooled PPV 25% [95% CI 1.3%–90%]. The screen positive rate for trisomy 13 was 7/1592 (0.44%) and confirmed in 0/7 cases (pooled PPV 0% [95% CI 0%–100%]). The screen positive rate for additional findings was 23/767 (2.9%), of which none could be confirmed. No discordant negative results were reported. There is insufficient data to fully evaluate NIPT performance in pregnancies with a VT. However, existing studies suggest that NIPT can successfully detect common autosomal aneuploidies in pregnancies affected by a VT but with a higher false positive rate. Further studies are needed to determine the optimal timing of NIPT in VT pregnancies.     

Identifying areas of high herpetofauna diversity that are threatened by planned infrastructure projects in Spain

A major task related to conservation is to predict if planned infrastructure projects are likely to threaten biodiversity. In this study we investigated the potential impact of planned infrastructure in Spain on amphibian and reptile species, two highly vulnerable groups given their limited dispersal and current situation of population decline. We used distribution data of both groups to identify areas of high herpetofauna diversity, and compared the locations of these areas with the locations of the planned road, high-speed train railway and water reservoir network. Four criteria were used for this identification: species richness, rarity, vulnerability, and a combined index of the three criteria. From a total of 1441 cells of 20 x 20 km, areas of high diversity were defined as those cells whose ranked values for the different criteria included either all species or all threatened species. The combined index provided the smallest number of cells needed to retain all threatened species (1.7 and 2.6% of the cells for amphibian and reptile species, respectively). Coincidences between these high diversity areas and cells including planned infrastructures-denominated 'alert planning units'-were 35.4% for amphibians and 31.2% for reptiles. Mitigation of the potential impacts would include actions such as barriers to animal access to roads and railways and ecoducts under these constructions. Our approach provides conservation authorities information that can be used to make decisions on habitat protection. A technique that identifies threats to herpetofauna before they occur is also likely to improve the chance of herpetofauna being protected.