Communicating a Positive Result at Newborn Screening and Parental Distress

Round 1

Reviewer 1 Report

It is very interesting to know the impact of a positive newborn screening  in families to provide the necessary care.

It would be interesting to continue the study and have a control group of families.

Perhaps a contact with the families explaining more in detail the importance of the Newborn Screening  would reduce the impact of a positive result.

Author Response

We thank the reviewer for comments:

We will continue the study by including a control group of families and extending the number of parents

We agree that a contact with the families to explain more in detail the importance of the Newborn Screening  would reduce the impact of a positive result. This is one of the critical issue in NBS world. Information is the key and it should be accomplished during pregnancy and just after the birth

Reviewer 2 Report

The manuscript “Communicating a positive result at newborn screening and parental distress” approaches from a novel perspective a very important part of the NBS process – the communication of a positive result to the caregivers and its possible effect on the family and ultimately on the care to the newborn. This is an important issue for all those working in the field, fitting on the scope of IJNS.  Nevertheless, in my opinion, the manuscript needs some improvements before being considered for publication.

·       The introduction should better reflect the state of the art in the field.

·       It is said that in BDI II, the subjects are asked how they have been feeling in the last two weeks (before the communication of NBS result). How can this be related to the event of communicating a positive NBS result?  Are the answers biased by the shock of the bad news? The obtained results can only be interpretated in comparison to couples without a positive result communication. There are several publications relating depression and pregnancy.

·       Please consider stratifying the consequence of communicating of a positive result, depending on the severity of the communicated/suspected disorder.

·       How can the used tests differentiate answers due to the shock effect from real, long-term feelings?

·       Is a follow-up of these couples planned? Is yes, how?

·       This study focusses only on ENS positive cases. Why?

·       Please consider presenting the manuscript as the preliminary results of a broader long-term approach to the subject. This would be significant for those working in the field.

The text needs english reviewing.

Author Response

The manuscript “Communicating a positive result at newborn screening and parental distress” approaches from a novel perspective a very important part of the NBS process – the communication of a positive result to the caregivers and its possible effect on the family and ultimately on the care to the newborn. This is an important issue for all those working in the field, fitting on the scope of IJNS.  Nevertheless, in my opinion, the manuscript needs some improvements before being considered for publication.

• The introduction should better reflect the state of the art in the field.

We thank the reviewer for the comment. A more detailed discussion referring the state of the art and comparing other studies has now been added in the introduction section: see revised manuscript with track changes

• It is said that in BDI II, the subjects are asked how they have been feeling in the last two weeks (before the communication of NBS result). How can this be related to the event of communicating a positive NBS result?  Are the answers biased by the shock of the bad news? The obtained results can only be interpretated in comparison to couples without a positive result communication. There are several publications relating depression and pregnancy.

Please consider stratifying the consequence of communicating of a positive result, depending on the severity of the communicated/suspected disorder.

According with the DSM 4 criteria for EDM, the BDI measures how people have been feeling for the last two weeks, in our case including the period before the communication of the ENS result up to the event of the communication itself. It is a specific criterion of the BDI II itself. At the best of the authors knowledge there are no questionnaire able to measure the depression in a specific moment. The measurement of depressive symptoms/episode is normally measured in a window of at least two weeks of time. In our study the questionnaire has been completed after the ENS result communication therefore we should hypothesize the analysis was including that span of time.

A second study recruiting other parents receiving a communication of positive result and a control group has been planned for the next 24 months.

Moreover, a comparison with positive ENS results and depression/anxiety measured in the normal population during pregnancy, post partum would surely enrich and support the data. Unfortunately, part of this study has been performed under particular social conditions due to the pandemic, and we had not a chance to extend the study to the normal population

• How can the used tests differentiate answers due to the shock effect from real, long-term feelings? Is a follow-up of these couples planned? Is yes, how?

Thanking the reviewer for the suggestion, in the next study we will ask families the availability to respond a second questionnaire after 6-12 months (for instance) to improve our results.

• This study focusses only on ENS positive cases. Why?

 Please consider presenting the manuscript as the preliminary results of a broader long-term approach to the subject. This would be significant for those working in the field.

We had no chance to measure false negative (FN) cases during our study. Apparently no FN have been recorded in that period. The measurement of depression/anxiety in the normal population not receiving a positive result (true negatives) will be part of a future study

Reviewer 3 Report

Please see attached comments for authors.

Comments for author File: Comments.docx

Author Response

Abstract:

1. Authors state, “As clinical experience shows us, this aspect seems to have a potentially lasting resonance on the way the disease will be lived and handled in the family...” I believe that people live with diseases; diseases do not live. Suggest rephrasing.

In the abstract the phrase “….will be lived…” has been changed in “…will be managed…” according with a naïve English speaker suggestion. 

2. Abstracts typically include a concise summary of the findings. This one only states the aim. I recommend revising to include a brief summary of methods, results and conclusions.

The abstract has been implemented by including methods, results and conclusions as required:

“The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience shows us, this aspect seems to have a potentially lasting resonance on the way the disease will be managed and handled in the family, leading to potential negative effects and repercussions on the child’s wellbeing and on the quality of life within the family. On the basis of this and on the evidences emerging from a review of the literature, this study aims to investigate and objectify possible distress indicators elicited at the moment of the communication of a positive result at ENS. Questionnaires containing the Beck Depression Inventory-II, the Stait-Trait Anxiety Inventory –Y, the Short Form 36 Health Survey tests have been administered to the parents of 87 newborns receiving a positive result at ENS. Parents of 32 babies completed the questionnaires referring the presence of discomfort potentially related to the communication of a positive result at ENS”.

Introduction

1. The introduction makes a convincing case for the need for such a study. I have no recommendations for revisions.

We thank the reviewer for the comment

Methods

1. This section is very well organized, clear and concisely provides essential details for the reader to understand how the study was conducted.

We thank the reviewer for the comment

Results

1. Similarly, the results are clearly and concisely stated.
2. I also applaud the researchers for carefully documenting the demographics of their study participants. Well done!
3. We thank the reviewer for the comment

Discussion/Conclusion

1. These sections are also very well written, expanding interpretations of the results.
2. As the authors note, the lack of a control group is the major limitation of this study. The authors also do not mention postpartum mood disorders which are common in this population. I wonder if there are national data regarding the prevalence of postpartum depression and anxiety in mother and fathers that the authors could bring into the discussion section. I would be interested in knowing how the results of this study compare to such data from the general population. Such a comparison could strengthen the authors’ claims about the potentially adverse impact of abnormal ENS findings.

1.We thank the reviewer for the comments.

2.We agree with reviewer comment, a second study recruiting other parents receiving a communication of positive result and a control group has been planned for the next 24 months.

Moreover, a comparison with positive ENS results and depression/anxiety measured in the normal population during pregnancy, post-partum would surely enrich and support the data. Unfortunately, part of this study was completed under particular social conditions due to the pandemic, and we had not a chance to extend the study to the normal population

Reviewer 4 Report

While this is a very important issue, I'm sorry but as you write by yourself: this study does not allow us to measure "the real impact" of the communication of a positive result at ENS.

The number of participants is very low and additionally, there might be a huge selection bias as only half of the parents answered.

In my opinion, the results represent the normal stress of parents with a newborn and all parents will be anxious at the moment when they are told their newborn might not be healthy.

The discussion with other papers is lacking, most of them show a short time impact of the positive screening result.

So maybe to improve your investigation you might ask the families again after some time or you try to include a control group.

Author Response

While this is a very important issue, I'm sorry but as you write by yourself: this study does not allow us to measure "the real impact" of the communication of a positive result at ENS.

The number of participants is very low and additionally, there might be a huge selection bias as only half of the parents answered.

The percentage of the overall ENS recall rate in Tuscany is about 0.2%. Eighty seven positive babies are related to about 50.000 screened newborns in a period of more than 2 years (in the subject section we reported that we excluded some parents who have not mastered the Italian language enough to understand the questionnaires). We accept the comment of the reviewer that it could be considered a small number but it is the entire number of parents that we have had in that period. The reviewer was right, had we had a recall of 0.5% for instance we would have had more newborns to recall and therefore parents to enrol in the study.

In my opinion, the results represent the normal stress of parents with a newborn and all parents will be anxious at the moment when they are told their newborn might not be healthy.

We respect the opinion of the reviewer and of course we admit the lack of a control group is the major limitation of this initial study. For that reason, a new study recruiting other parents receiving a communication of positive result and a control group has been planned for the next 24 months.

The discussion with other papers is lacking, most of them show a short time impact of the positive screening result.

We thank the reviewer for the comment. A more detailed discussion about the state of the art after a new comparison with other studies has now been added in the introduction section: see revised manuscript with track changes

So maybe to improve your investigation you might ask the families again after some time or you try to include a control group.

Thanking the reviewer for the suggestion, in the next study we will ask families the availability to respond a second questionnaire after 6-12 months to improve our results

Round 2

Reviewer 2 Report

After the revisions made, is my opinion that the manuscript is ready for publication.

Author Response

We thank the reviewer for the comment he/she made

Reviewer 4 Report

See last comments

Author Response

We thank the reviewer for his/her comment