Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience
, Mackenzie Kosak 1, Sarah Rathwell 2, Jasmine Doonanco 3, Alison J. Eaton 1,3, Peter Kannu 1,2,3, Joanna Lazier 4, Monique Lui 3, Karen Y. Niederhoffer 1,3, Melissa J. MacPherson 1,3, Melissa Sorsdahl 3 and Oana Caluseriu 1,2,3,*Round 1
Reviewer 1 Report
In this manuscript Oana et al., authors reported a unique discussion about prenatal genetic testing using next-generation sequencing. We know that congenital abnormalities are important driving factor for unbalancing pregnancy and health care burden. It has been known that several clinical protocols and imaging methods were used to identify structural or functional defects during on-going pregnancies or postpartum periods. These well-known methods are great but not efficient to detect majority of cases. Authors described well about the routine application of NGS in detection of certain abnormalities, which were not visible by traditional techniques.
The manuscript proposes a unique thought on sequencing application in pediatrics field.
Author Response
Reviewer's point:
In this manuscript Oana et al., authors reported a unique discussion about prenatal genetic testing using next-generation sequencing. We know that congenital abnormalities are important driving factor for unbalancing pregnancy and health care burden. It has been known that several clinical protocols and imaging methods were used to identify structural or functional defects during on-going pregnancies or postpartum periods. These well-known methods are great but not efficient to detect majority of cases. Authors described well about the routine application of NGS in detection of certain abnormalities, which were not visible by traditional techniques.
The manuscript proposes a unique thought on sequencing application in pediatrics field.
Response: As the reviewer has made a general statement about the manuscript but not specific points, questions for review, we have not modified our manuscript.
Reviewer 2 Report
The paper is well written, however it needs some minor revisions:
- The figures 1, 2 and 3 must be improved.
- The formatting of tables 1a and 1b must be improved, mainly the header.
- All mentioned genes in the tables 1a and 1b must be written in italic.
Author Response
Reviewer's point 1:
- The figures 1, 2 and 3 must be improved.
Response to point 1:
We have redone Figure 1, 2, and 3 in the body of the manuscript. Supplementary figures and tables were revised. The revised draft will be attached.
Reviewer's point 2:
- The formatting of tables 1a and 1b must be improved, mainly the header.
Response to point 2:
We have reviewed the Tables 1a and 1b and saved them as a separate pdf document that will be attached.
-Reviewer's point 3:
- All mentioned genes in the tables 1a and 1b must be written in italic.
Response to point 3:
We have corrected the formatting of gene names to italics as requested for the Tables and the revised pdf document will be attached.
