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What Causes Recurrent Bilateral Persistent Hyperplastic Primary Vitreous?
Question: Hi,
Two months back my wife delivered a baby who was diagnosed with Bilateral PHPV. Two years back also my elder Son also had exactly same issue and was diagnosed with bilateral PHPV.
In order to find out exact reason My wife recently did a torch test to find out any infection.
Her Rubella IgG was Positive (46.12) whereas Rubella IgM was non reactive (0.78).
secondly , her CMV IgG was reactive ( 545.35) and CMV IgM was non reactive (0.21).
we are also awaiting our Keryotyping results and formal report for my second son (two months old who is also diagnosed for bilateral PHPV)
Can you please advise the probable causes and the diagnosis to identify the exact cause for this issue ? this will help us to identify the reason and plan our next baby probably next year (only when it is safe and possible).
Two months back my wife delivered a baby who was diagnosed with Bilateral PHPV. Two years back also my elder Son also had exactly same issue and was diagnosed with bilateral PHPV.
In order to find out exact reason My wife recently did a torch test to find out any infection.
Her Rubella IgG was Positive (46.12) whereas Rubella IgM was non reactive (0.78).
secondly , her CMV IgG was reactive ( 545.35) and CMV IgM was non reactive (0.21).
we are also awaiting our Keryotyping results and formal report for my second son (two months old who is also diagnosed for bilateral PHPV)
Can you please advise the probable causes and the diagnosis to identify the exact cause for this issue ? this will help us to identify the reason and plan our next baby probably next year (only when it is safe and possible).
Brief Answer:
karyotyping analysis needed
Detailed Answer:
Hello sir, thanks for trusting health care magic.
I have seen the attached reports and analyses your case.
Recurrent PHPV in successive children is most commonly due to gene mutation which in your case is most likely an Autosomal Recessive gene because both of you are perfectly normal and there are no other positive congenital abnormalities in both the children (thank God).
The only positive correlation is the presence of IgG antibodies for Rubella and CMV.
I would like to advise you to get -
- an avidity testing for both rubella and CMV Antibodies (which will tell us recent infection or just a routine elevation after a remote infection caught incidentally)
- karyotyping (already gone for reporting)
- plan a next baby only after proper genetic counseling.
Here I want to elaborate on genetic counseling, testing and implications of karyotyping.
These three are interrelated in the sense that before planning for next pregnancy your karyotyping analysis will tell us the abnormalities involved and thus identification of the involved gene by DNA-PCR technique and after that planning the pregnancy on that basis.
I hope I have discussed all the aspects but in case you have any questions I will be glad to answer.
Regards
Dr Manisha
karyotyping analysis needed
Detailed Answer:
Hello sir, thanks for trusting health care magic.
I have seen the attached reports and analyses your case.
Recurrent PHPV in successive children is most commonly due to gene mutation which in your case is most likely an Autosomal Recessive gene because both of you are perfectly normal and there are no other positive congenital abnormalities in both the children (thank God).
The only positive correlation is the presence of IgG antibodies for Rubella and CMV.
I would like to advise you to get -
- an avidity testing for both rubella and CMV Antibodies (which will tell us recent infection or just a routine elevation after a remote infection caught incidentally)
- karyotyping (already gone for reporting)
- plan a next baby only after proper genetic counseling.
Here I want to elaborate on genetic counseling, testing and implications of karyotyping.
These three are interrelated in the sense that before planning for next pregnancy your karyotyping analysis will tell us the abnormalities involved and thus identification of the involved gene by DNA-PCR technique and after that planning the pregnancy on that basis.
I hope I have discussed all the aspects but in case you have any questions I will be glad to answer.
Regards
Dr Manisha
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
It was really quick. Thank you so much doctor!
We are moving in the same direction and will complete all the test as you suggested. i will again reach out to you post our karyotyping results are out. It will be really great if you can assist us throughout with your inputs.
Thanks again and it has really been a great help !
We are moving in the same direction and will complete all the test as you suggested. i will again reach out to you post our karyotyping results are out. It will be really great if you can assist us throughout with your inputs.
Thanks again and it has really been a great help !
Brief Answer:
welcome
Detailed Answer:
You are most welcome and definitely get the avidity testing done.
I will be really happy to help you through this and may god bless you with a healthy child soon.
Take care
welcome
Detailed Answer:
You are most welcome and definitely get the avidity testing done.
I will be really happy to help you through this and may god bless you with a healthy child soon.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Hi Doctor,
Just now I received the report for my second son and it says that there can be possibility that both of our son are either having PHPV or Familial Exudative Vitreo-retinopathy (FEVR). i have attached the report. How can we confirm the disease ?
Does karyotyping and further genetic counselling be able to identify this ?
Regards,
XXXXXX
Just now I received the report for my second son and it says that there can be possibility that both of our son are either having PHPV or Familial Exudative Vitreo-retinopathy (FEVR). i have attached the report. How can we confirm the disease ?
Does karyotyping and further genetic counselling be able to identify this ?
Regards,
XXXXXX
Brief Answer:
gene mapping needed
Detailed Answer:
Hello sir, yes both of these can be assessed by means of gene mapping and it is a must so as to bear a normal child in future.
Also I want to elaborate on further management to a achieve a healthy baby.
After gene mapping of the involved gene we will have a good information to locate that in your future progeny so to ensure normal gene we can opt either of below mentioned ways -
1) IVF (test tube baby) - we will test the baby formed in test tube for defective gene and in case found normal we will put it inside the uterus of your wife.
But IVF is a costly procedure and involves very much technical support.
2) Amniocentesis - here we will allow your wife to conceive naturally and then take sample from the amniotic fluid at 16-18 weeks of pregnancy and then identify the defective gene and in case abnormal gene is detected, pregnancy will be terminated.
This is a simpler method but involves emotional trauma of abortion of a live pregnancy.
Don't be anxious right now and just wait for gene analysis.
I wish you all the best.
gene mapping needed
Detailed Answer:
Hello sir, yes both of these can be assessed by means of gene mapping and it is a must so as to bear a normal child in future.
Also I want to elaborate on further management to a achieve a healthy baby.
After gene mapping of the involved gene we will have a good information to locate that in your future progeny so to ensure normal gene we can opt either of below mentioned ways -
1) IVF (test tube baby) - we will test the baby formed in test tube for defective gene and in case found normal we will put it inside the uterus of your wife.
But IVF is a costly procedure and involves very much technical support.
2) Amniocentesis - here we will allow your wife to conceive naturally and then take sample from the amniotic fluid at 16-18 weeks of pregnancy and then identify the defective gene and in case abnormal gene is detected, pregnancy will be terminated.
This is a simpler method but involves emotional trauma of abortion of a live pregnancy.
Don't be anxious right now and just wait for gene analysis.
I wish you all the best.
Note: Revert back with your gynae reports to get a clear medical analysis by our expert Gynecologic Oncologist. Click here.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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