Tags: Case Report / Case Series, 2022, France, CNVs

• GW-NIPT rapidly characterized supernumerary marker chromosomes for a patient in a time- and cost-effective manner – a pericentromeric 29 Mb dup (20) (p13q11.21) was identified and then confirmed by targeted FISH (fluorescence in situ hybridization).

The post Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker chromosome. appeared first on Global NIPT Consortium.

Tags: Health Care Provider Perspectives, 2022, France, RAAs, CNVs

• Qualitative semi-structured interviews with 17 health professionals between September 2021 and February 2022 and a comprehensive literature review.
• “The results of our empirical research highlight the importance of addressing ethical issues related to the differing quality of counselling, the complexity of achieving informed consent, and the avoidance of harm to pregnant women in the feedback of findings beyond T21, T18 and T13. If there is an increase in the provision of GW-NIPT within the French public health system, it will be essential to promote medical practices that respect reproductive choices of women, support their autonomous decision and their understanding of the limitations and uncertainties associated with GW screening.”

The post Health professionals and scientists’ views on genome-wide NIPT in the French public health system: Critical analysis of the ethical issues raised by prenatal genomics. appeared first on Global NIPT Consortium.

Tags: Laboratory Performance / Laboratory Experience, 2020, France, RAAs, CNVs

• This publication recognizes that fetal chromosome anomalies beyond the common aneuploidies occur more frequently than previously thought and subsequently can impact fetal development. As such, the authors propose a screening strategy for Expanded NIPT to detect chromosome anomalies beyond the common trisomies. Results showed that Expanded NIPT can screen for rare autosomal aneuploidies and partial deletions/duplications with an acceptable sensitivity and a small increase in the rate of invasive testing.

The post Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies appeared first on Global NIPT Consortium.