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What Genetic Disorder Of A Parent Can Cause Complete Blindness In A Child?
Question: Hi..this is XXXXXXX and need your advise on behalf of my colleage Mr xxxxxxxxxx XXXXXXX
Mrxxxxxxx XXXXXXX married in the year of 2011 with M xxxxxxxx who is his own uncle's daughter and he blessed with baby boy in 2012 and that boy got hole in heart and was died within 40 days from birth date.
Again in 2013, he blessed with baby girl and she is COMPLETE BLIND.
In view of different problems in births, they consulted doctors and they suggested for Genes test of his wife (which is enclosed for reference). At present she is carrying and 5th month and Genetic test was done for fetus was same enclosed for reference.
Our query is request you to please analyse the reports and suggest whether the coming baby will have problems or not. Pls help in this regard.
Mrxxxxxxx XXXXXXX married in the year of 2011 with M xxxxxxxx who is his own uncle's daughter and he blessed with baby boy in 2012 and that boy got hole in heart and was died within 40 days from birth date.
Again in 2013, he blessed with baby girl and she is COMPLETE BLIND.
In view of different problems in births, they consulted doctors and they suggested for Genes test of his wife (which is enclosed for reference). At present she is carrying and 5th month and Genetic test was done for fetus was same enclosed for reference.
Our query is request you to please analyse the reports and suggest whether the coming baby will have problems or not. Pls help in this regard.
Brief Answer:
Can carry the pregnancy.
Detailed Answer:
Hello dear, thanks for trusting HealthcareMagic.
I have seen the attached reports and relating it with her history I am quite confident that she is carrying a normal baby this time but still there are certain unrecognized mutations and implications of recessive mutations which cannot be ruled out especially if they are balanced translocations.
Specific gene sequencing of a single parent and the fetus will not be sufficient because the genetic material in a fetus comes from both parents in equal quantities, moreover there are a multitude of gross chromosomal aberrations that can not be detected by specific gene sequencing techniques and need a proper and complete analysis starting with karyotyping of both parents to look for gross chromosomal anomalies, balanced translocations can be analysed by fluorescent in situ hydridisation (FISH), and copy number variations (CNVs) can be detected by Array comparative genomic hybridisation (aCGH). These are the tests that need to be performed to identify the probable genetic abnormality that has caused congenital anomalies in previous pregnancies.
So in my opinion she can carry on this pregnancy with proper growth monitoring and get delivered in a multi specialty hospital with peadiatric support.
At the sane time her partner should also be tested via sequencing to assess risk in next pregnancy and a karyotype of both the partners.
These two investigations have no implications in this pregnancy.
Wish her luck.
Can carry the pregnancy.
Detailed Answer:
Hello dear, thanks for trusting HealthcareMagic.
I have seen the attached reports and relating it with her history I am quite confident that she is carrying a normal baby this time but still there are certain unrecognized mutations and implications of recessive mutations which cannot be ruled out especially if they are balanced translocations.
Specific gene sequencing of a single parent and the fetus will not be sufficient because the genetic material in a fetus comes from both parents in equal quantities, moreover there are a multitude of gross chromosomal aberrations that can not be detected by specific gene sequencing techniques and need a proper and complete analysis starting with karyotyping of both parents to look for gross chromosomal anomalies, balanced translocations can be analysed by fluorescent in situ hydridisation (FISH), and copy number variations (CNVs) can be detected by Array comparative genomic hybridisation (aCGH). These are the tests that need to be performed to identify the probable genetic abnormality that has caused congenital anomalies in previous pregnancies.
So in my opinion she can carry on this pregnancy with proper growth monitoring and get delivered in a multi specialty hospital with peadiatric support.
At the sane time her partner should also be tested via sequencing to assess risk in next pregnancy and a karyotype of both the partners.
These two investigations have no implications in this pregnancy.
Wish her luck.
Above answer was peer-reviewed by :
Dr. Yogesh D
Answered by
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