Reviewer’s report
Title: 
Fragile X Premutation carrier screening in Pakistani preconception women
in primary care consultation
Version: 
1 
Date: 
17 Jan 2022
Reviewer's report:
Dear Authors,
" Fragile X Premutation carrier screening in Pakistani preconception women in
primary care consultation". The authors tried to investigate the Fragile X PM
carrier screening in total 808 women who were consulting primary health care
centers for preconception care in Khyber Pakhtunkhwa region of Pakistan
between April, 2018 and December, 2020. 
Polymerase chain reaction (PCR) was
performed for detection of PM carrier women and the CGG repeats number was
confirmed by Southern blotting and capillary gel electrophoresis. Current study
authors provides first evidenceof fragile X PM carrier screening in Pakistani
preconception women in primary care consultation. They concluded that findings
study may help to improve preconception care and to reduce burden of fragile X
associated disorders in their population. I think this paper is interesting and
novel. I have not any revision. In my opinion this paper is acceptable for
publication in the journal..
Kind regards,
Kadri Karaer, MD.
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Is the study design appropriate to answer the research question (including the use
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