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How Can A Birth Defect Be Ruled Out During Early Pregnancy?

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Posted on Wed, 22 Nov 2017
Question: My daughter in law just advised us that she is five weeks pregnant. We are overjoyed but unexpectedly, I am overcome with anxiety that maybe I should have advised them to get genetic testing For the following reason. My husband is 75 years old. About 15 years prior to his birth, his mother had a daughter. She told me and her other daughters that it was a Trumatic birth resulting in oxygen deprivation and the baby. The baby subsequently had seizures, projectile vomit Ing, impaired growth and constant crying . She lived with the family for a few years, but was then institutionalized and died at about age 18 . For some reason, I guess given all of the news and talk now about genetic testing etc., I question whether there might also have been a genetic defect involved. My husband's mother went I on to have three other healthy children. They have all had multiple healthy birth – there have been approximately 40 births since then. I can only imagine the anxiety and consternation I would have caused had had I constantly been bringing up the possibility of a birth defect when in fact that was only my conjecture – his mother was very clear it was oxygen deprivation. Obviously since my daughter is now newly pregnant, this is not a concern I want to lay on her. My husband has always believed his mothers recollection completely and never questioned it. He believes alerting a generation to a problem that he believes there is no evidence existed is unfair and unkind . My son and daughter-in-law recently had "23 and me" genetic testing done and it was all clear , thank God. If there was a genetically inherited birth defect, woukd itvhave shown up there ? Of course my daughter-in-law will get all the routine screening's throughout the pregnancy – would any birth defects showvup therev as well? And I honestly am shocked that it is suddenly dawning on me at this time. But it is giving me great concern that I was remiss in not suggesting further genetic testing. My question to you is this. Could oxygen deprivation at birth have been responsible for the constellation of symptoms I described I.e., seizures, projectile vomiting, constant crying indicating pain, and impaired growth , possibly heart implications given her early death. Are the se symptoms indicative of any particular birth defect or more likely the result of oxygen deprivation, a birth trauma more common almost 100 years ago. Thank you so much for understanding a grabdmother's heart. Did I drop the ball?
doctor
Answered by Dr. Diptanshu Das (42 minutes later)
Brief Answer:
Regular antenatal check ups would clear all apprehensions

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have gone carefully through your query and understand your concerns. Let me assure you that you have no reason to worry. Firstly, your mother-in-law gave birth to more than one healthy children and each of them (including your husband, and you) have given birth to children, all of whom are healthy. Birth asphyxia is an unfortunate condition which can occur due to oxygen deprivation before, during or after birth. Although it can have genetic causes, you can rest assured that such genetic factors would not have been able to lay hidden without being manifested somewhere in the family. In other words, the risk in case of your daughter-in-law is practically no more than that in anybody else in the general population. Furthermore, a proper series of antenatal checkup with fetal ultrasonography and other tests will help in ruling out any risk that may remain. In short, you have no reasons to worry.

Let me know if I could help further.

Regards
Above answer was peer-reviewed by : Dr. Vaishalee Punj
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Follow up: Dr. Diptanshu Das (25 hours later)
Thank you-your information is very reassuring. My follow up is whether the symptoms ithe poor child had , e.g., seizures, crying relentlessly, vomiting, impaired growth sound like the result of oxygen deprivation and not a specific birth defect? I understand you are saying it would have shown up again . I have been reluctant to encourage genetic testing out of concern for alarming them- we know that just because you may carry a disease does not mean you will - and the uncertainty of the knowledge might be a burden. After this pregnancy is finished, do you think my mother-in-law's situation would justify genetic testing.? I believe I told you they have already Had this new " 23 and me"- all clear--to be honest, the only disability that has twice shown up in all of the 40 offspring is autism – but that is enough to have scared all the others! And autism does not show up on genetic testing so I feel additional anxiety may just shed more heat than light. Your opinion? And thanks very much again.
doctor
Answered by Dr. Diptanshu Das (38 minutes later)
Brief Answer:
No need to worry

Detailed Answer:
The mentioned presentations in the poor child were all sequel of birth asphyxia. Sometime a similar presentation can be obtained when there are developmental deformities involving the brain. But had such a thing been present, it such a thing would have manifested in other family members. Since that is not the case, you have no reasons to worry. I do not see the significance of a genetic testing unless fetal anomaly scan reveals any deformities.

Autism is a complex disorder that often has no clearly discernible cause. But in some cases, a person carries a genetic variant that is a known risk factor for autism. Genetic testing can reveal these factors. Discuss with the obstetrician and he would be able to guide you further.

Regards
Above answer was peer-reviewed by : Dr. Prasad
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Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3873 Questions

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How Can A Birth Defect Be Ruled Out During Early Pregnancy?

Brief Answer: Regular antenatal check ups would clear all apprehensions Detailed Answer: Thanks for asking on HealthcareMagic. I have gone carefully through your query and understand your concerns. Let me assure you that you have no reason to worry. Firstly, your mother-in-law gave birth to more than one healthy children and each of them (including your husband, and you) have given birth to children, all of whom are healthy. Birth asphyxia is an unfortunate condition which can occur due to oxygen deprivation before, during or after birth. Although it can have genetic causes, you can rest assured that such genetic factors would not have been able to lay hidden without being manifested somewhere in the family. In other words, the risk in case of your daughter-in-law is practically no more than that in anybody else in the general population. Furthermore, a proper series of antenatal checkup with fetal ultrasonography and other tests will help in ruling out any risk that may remain. In short, you have no reasons to worry. Let me know if I could help further. Regards