Invasive Prenatal Diagnostics: A Cornerstone of Perinatal Management

Round 1

Reviewer 1 Report (Previous Reviewer 3)

Comments and Suggestions for Authors

1-  I believe that you made some changes that make the manuscript much more important for the subject discussed.

2-  The "Prenatal Diagnostic Timeline is helpful.

3-  The figure on page 8 is also helpful. 

Author Response

Sincere Thanks

Reviewer 2 Report (Previous Reviewer 1)

Comments and Suggestions for Authors

The authors addressed all my question. No further questions or comments,

Comments on the Quality of English Language

Minor editing of English language required.

Author Response

Sincere Thanks

Reviewer 3 Report (New Reviewer)

Comments and Suggestions for Authors

Authors wrote a detailed and comprehensive review about important topic that is constantly evolving. However, there are several aspects that need to be elaborated for an up-to-date review. The greater part of the introduction is based on the beginnings and history of ultrasound without emphasizing the novelties of massive parallel sequencing and NGS. This should be put into perspective, in correlation with ultrasound findings, detection rates by phenotypes and diagnostic incremental yield for each technique (especially for CMA, WES and WGS). Also, R21 rapid prenatal exome sequencing should be mentioned, as well as inclusion criteria. Comparison with cffDNA need to be emphasized, as well as future perspectives for WGS as the most informative technique. 

Cordocentesis should also be mentioned regarding chromosomal mosaicism after amniocentesis and hematological assessment of the fetus. 

All the procedures should be described in brief in multiple pregnancies as well. 

Comments on the Quality of English Language

English language is correct and readable, although some minor corrections are needed. 

Author Response

I have delved into the topic od MPS and described the path to NGS in the introduction and compared it to cffDNA capabilities.

I also elaborated the topic of incremental diagnostic yield of the newest techniques, such as CMA, WES, WGS. I also familiarized the readers with the matter of R21, as well as inclusion criteria. 

Cordocentesis has been mentioned in  context of true fetal mosaicism and fetal blood sampling. Also I have briefly described the aspect of invasive prenatal testing in multiple pregnancies. 

Round 2

Reviewer 3 Report (New Reviewer)

Comments and Suggestions for Authors

Congratulations to the authors for excellent and meticulous reply to all the requests. I have no further doubts nor questions regarding the topics discussed in the current paper. 

In my opinion the paper is adequate for publishing.

This manuscript is a resubmission of an earlier submission. The following is a list of the peer review reports and author responses from that submission.

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

This review manuscript titled " Invasive Prenatal Diagnostics: A Cornerstone of Perinatal Management " explores the historical and contemporary significance of invasive prenatal diagnostics, focusing on techniques like amniocentesis and chorionic villus sampling (CVS). It highlights their role in detecting genetic abnormalities and congenital infections. Despite advancements in non-invasive testing, invasive procedures remain crucial due to their accessibility and ability to diagnose a wide range of conditions. Ongoing research aims to further enhance prenatal diagnostics and integrate emerging technologies into clinical practice.

Overall, the article is very informative and beneficial for readers. However, some improvements can be made to improve the clarity and readability of the text.

 

Comments:

 

1. The whole paper’s information is dense and might be challenging for some readers to follow due to the complex experimental details and the extensive use of technical terms. Consider eliminating unnecessary technical details and focusing on the most critical information to improve overall readability.
2. Another important suggestion is to provide a clearer roadmap for readers to follow the complex technical details. (A summarized graph for this review would be better).

Comments on the Quality of English Language

Moderate editing of English language required

Reviewer 2 Report

Comments and Suggestions for Authors

While you may have all the appropriate articles, your format and presentation is very poor. 

I would suggest a re-write with presentation based on decades with the discoveries for imaging , invasive testing , non-invasive testing summarized for each decade timeline approach as this present one does not attract the reader.

Comments on the Quality of English Language

Adequate.

Reviewer 3 Report

Comments and Suggestions for Authors

1-  This is a very well written manuscript. It describes various aspects of Invasive prenatal diagnostics.

2-  It lists a significant number of references of the procedures, both old and current references.

3- However,  there are no figures, tables, etc., to complement the material. I do not remember any Review manuscript, which I have previously reviewed, and which did not have these features. 

4- It does not provide anything new in this field, though it does provide valuable information to students who are intending to enter this field.