Genetic disorders??

shocker · Sep 19th, 2009, 18:29 PM

My sister has told me i should have a specialised scan for birth defects as her first child died at four days because he was born with a hole in his heart shes since had 3 healthy happy children.My other sister had this scan when she was pregnant with her first and her little girl is ok aswell.Its apparently a genetic defect and im wondering if anyone else has had something like this in the family or if they know the odds of recurrence? I just feel like somethings going to go wrong and im the same age she was and he was her first aswell and i cant seem to find any info anywhere

honeygrl · Sep 19th, 2009, 18:42 PM

The chances are pretty low it will happen and her childs issue could've easily come from the fathers side. Your doctor will ask about your family history and you should mention this to him/her when they get your history. They will let you know if you should have tests to check for defects and what your risks are of having the same problem.

mamato2more · Sep 19th, 2009, 22:36 PM

I have two nephews with holes in their hearts. One they found at three months old, and he has had two open heart surgeries, and is fine now at the age of 14. The other, they just found, he's 14 also. He just could not keep up with the other kids and looked really sickly and pale. So, sure enough, it was there. The doc said it will probably close on it's own, but they will watch it. Now, I just tell the folks that my nephews have this and to keep an eye on the heart, especially when doing a scan. I would not want to do any invasive testing such as an amnio to find out.

shocker · Sep 20th, 2009, 14:44 PM

The doctors told me they wouldnt have to do an amnio to find out but that a they have some special ultrasound for it.Thanks for your replies, i think since im nearing the end of the first trimester theres just new worries coming up by the minute!!

honeygrl · Sep 20th, 2009, 15:32 PM

Yeah when they do your 20 week ultrasound they do check for all sorts of things like that and only if they find something suspicious do they normally suggest you go further with testing. What happened to your sister was probably a 1 in a million thing. I actually met a toddler when I was on a mission trip in Honduras that also had a hole in her heart but she was doing really well and living a normal life. I got to listen to it on the stethoscope and it was like she had 3 beats instead of 2.. it was ba-ba-bum instead of ba-bum. She didn't have any real medical care for it either. Their hospitals were so run down that they didn't even have running water in them. We are sooo lucky to have the medical care we have!

Sep 19th, 2009, 18:29 PM	#1
shocker Waiting To Try (WTT) BnB Addict Join Date: Aug 2009 Location: London Posts: 3,590	Genetic disorders?? My sister has told me i should have a specialised scan for birth defects as her first child died at four days because he was born with a hole in his heart shes since had 3 healthy happy children.My other sister had this scan when she was pregnant with her first and her little girl is ok aswell.Its apparently a genetic defect and im wondering if anyone else has had something like this in the family or if they know the odds of recurrence? I just feel like somethings going to go wrong and im the same age she was and he was her first aswell and i cant seem to find any info anywhere

Status: Offline

Sep 19th, 2009, 18:42 PM	#2
honeygrl Pregnant (Expecting) BnB Addict Join Date: Aug 2009 Location: Georgia, USA Posts: 2,555	The chances are pretty low it will happen and her childs issue could've easily come from the fathers side. Your doctor will ask about your family history and you should mention this to him/her when they get your history. They will let you know if you should have tests to check for defects and what your risks are of having the same problem.

Status: Offline

Sep 19th, 2009, 22:36 PM	#3
mamato2more Mum (Mom) Chat Happy BnB Member Join Date: Aug 2009 Location: Colorado Springs, Co, USA Posts: 2,307	I have two nephews with holes in their hearts. One they found at three months old, and he has had two open heart surgeries, and is fine now at the age of 14. The other, they just found, he's 14 also. He just could not keep up with the other kids and looked really sickly and pale. So, sure enough, it was there. The doc said it will probably close on it's own, but they will watch it. Now, I just tell the folks that my nephews have this and to keep an eye on the heart, especially when doing a scan. I would not want to do any invasive testing such as an amnio to find out.

Status: Offline

Sep 20th, 2009, 14:44 PM	#4
shocker Waiting To Try (WTT) BnB Addict Join Date: Aug 2009 Location: London Posts: 3,590	The doctors told me they wouldnt have to do an amnio to find out but that a they have some special ultrasound for it.Thanks for your replies, i think since im nearing the end of the first trimester theres just new worries coming up by the minute!!

Status: Offline

Sep 20th, 2009, 15:32 PM	#5
honeygrl Pregnant (Expecting) BnB Addict Join Date: Aug 2009 Location: Georgia, USA Posts: 2,555	Yeah when they do your 20 week ultrasound they do check for all sorts of things like that and only if they find something suspicious do they normally suggest you go further with testing. What happened to your sister was probably a 1 in a million thing. I actually met a toddler when I was on a mission trip in Honduras that also had a hole in her heart but she was doing really well and living a normal life. I got to listen to it on the stethoscope and it was like she had 3 beats instead of 2.. it was ba-ba-bum instead of ba-bum. She didn't have any real medical care for it either. Their hospitals were so run down that they didn't even have running water in them. We are sooo lucky to have the medical care we have!

Status: Offline

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