My genetic tests came back abnormal: Advice?

Ladies, my dr has me, and my husband worried sick. This is going to be a long post, and I’m sorry, but right now, I’m desperate for advice/opinions. I have two babies and pregnant with my 3rd. My first one is eight, so they didn’t offer the genetic test then. My 2nd one is two, and hers came back normal. No abnormal results. Perfectly fine. Now about a month ago, my dr called me with my genetic test for my 3rd and told me everything was normal, and it was another girl. No abnormal results. Yayyy. But then, two weeks later calls me saying I had two abnormal results, saying I was a CARRIER for two genetic diseases. One being lactose intolerant, the other being worse, saying my husband needed to come to get tested to see if he was a carrier for that disease. If he was, then they would have to watch her after birth and the worse situation she could pass in infancy. What I do not understand is why they told me everything was fine with my genetic test. Then two weeks later, call me and tell me my genetic test showed this. And if it is genetic and I am a carrier, then why didn’t my other test with my 2nd show the same thing?? My husband and I are worried sick, and they cant get me an ultra sound until my next apt or see me until then. I just kinda hope they called me with the wrong info or something.

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I wouldn’t worry until you are given a reason to worry mama <3

Sometimes they are just plain wrong! I know it’s scary and I pray for the best outcome for you…

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You also have an option of a second opinion. I hope all goes well for you and your family

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I hope all goes well for you and your family, don’t get to stressed as that could make things worse. Get a second opinion. It’s always best. I haven’t had the same situation with genetics but I did have heart failure and they didn’t want me to carry my 2nd baby full term and she’s a full thriving wonderful now 2 year old. It’s not always in the doctors hands. :heart:

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I tested I was a carrier for cystic fibrosis and my so needed to get tested too and if he was there was a chance our baby would have it. Drove me crazy! Just get him tested itll make you feel better.

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My genetic testing for my 2nd child of 4 kids, came back abnormal. It was something serious, and as bad as it sounds I honestly don’t even remember what it was (I could get the medical records, but I don’t feel that it’s necessary). It was a blur back then, because I was really stressing and worrying. They told us we needed to discuss our options and get back with them. She was born (full term) without any abnormalities, and now she’s 10.

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It sounds like you had two tests. A lot of times you will have a test that looks at the chromosomes to make sure the baby doesn’t have a trisomy like T21, T13, or T18. Then, there is also a test that can help determine whether you carry inherited health conditions that you might pass on to a child, hence the second call. Do you know the specific gene you carry? You can also google foresight carrier screening to learn more about the test.

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I THINK perhaps what happened is there are separate tests that are done, and perhaps some results he got later. If your husband has to get tested I believe it may be the test for cystic fibrosis, perhaps you tested positive for the gene however my doctor explained to me that if you do, you only have to worry if your husband also tests positive as a carrier which is not very common. You both would have to be carriers for there to be a chance that your baby could have it. But if one has it and the other doesn’t, then no need to worry. This would be my guess though, I can’t be sure of course. I’m sorry your doctor sounds like he’s not explaining to you the tests or results very well. If anything, like others are saying you can also get a second opinion. I know it’s easier said than done but try not to worry!!

The medical profession may not have had this particular gene isolated yet with your previous pregnancy, or they simply may not have tested for it. If your husband is not a carrier as well then you shouldn’t have to worry about it. If he is, that still doesn’t guarantee that your baby will have the disease. I wouldn’t freak out until you get your hubby’s results. If he is a carrier too then I would start to look deeper.

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Go for a second opinion and tests somewhere elsem

I feel like you already have two healthy children and this 3rd one will be too.

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I’m waiting right now for my kids genetic testing to come back to see if I passed on my genetic mutation… I’m staying calm… if they have the mutation I already have doctors in place to step into action and help them take care of themselves. Face your worst fears on worst case and find doctors who specialize in handing that genetic mutation. You’ll feel a lot better knowing a solid care plan is available if it pops up positive. If you need help with that please feel free to message me!

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The medical world is advancing every day with new tests n new things… I have a blood issue, that now they can test parents for but even then only certain doctors even know what it is so don’t even test for it…

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I would ask for a retake of the tests. Voice your concerns. Sometimes tests are wrong. Get retested have your so tested and breathe momma try not to stress I know that’s easier said then done. I’m adopting from a lady that had a brain tumor when she was a baby, her first child is autistic and has other health issues her second baby is perfectly healthy now this is her 3rd and final baby we just had her first ultrasound monday everything looks great but now we go for the harmony test Tuesday its definitely stressful waiting for results. Sending you many prayers :heart: but definitely ask for the test again.

My genetic testing came back positive for Down syndrome when I was expecting my son. I was sent for a level two ultrasound and seen by a genetics specialist. I found out at that appointment my son had markers consistent for DS and a 1/22 chance of actually having Down syndrome. He was born June 20, 2016 and completely healthy and normal. Just sharing my experience and praying for the best outcome for this momma and family.

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If it was the receptionist to giving you the results they don’t know Medical stuff and sometimes they read things wrong so it’s always better to get the information from a trained Medical Professional like your doctor. You got to remember each pregnancy is different each child is different so just because it didn’t show in the first two does it mean the third wasn’t going to have anything wrong it’s genetics sometimes that’s how the dice rolls. My advice would be for you and your husband to go in and get genetically tested especially if it’s about your unborn baby’s health it could be nothing but it could be something and it’s better to be prepared either way. Prayers

My oldest is almost 12, genetic tests have been done since long before then. Maybe your first OB failed to offer it during your first pregnancy or you declined and don’t remember but these tests have been around. WHAT they tested for makes a difference. They should have referred you to a genetic counselor. The genetic counselor can give you information on the genetic condition, tell you the chances of the condition, offer an amniocentesis, and more.

I did the genetic testing my son while will be 17 months in 2 days results came back abnormal! Supposedly my son does not have the tube that carry’s sperm! They told me that we would not no for sure until it came time for him to reproduce and if indeed the testing was correct he can have a surgery to correct it they said it was rare🤦‍♀️ I can’t recall what it was called! Other than that I’m not sure what advice to give you and if genetic testing is always correct!

This is just my opinion so no comments back are necessary- after all we all are entitled to our own opinion right??? I personally wish they would not do this genetic testing. Same thing happened to someone I love and it was a miserable 9 months just not knowing, always worrying,always on your mind. Baby was born perfectly normal. All that stress and worrying they did for 9 months stole their happiness.
Secondly, again, just my opinion, God doesn’t make mistakes. No matter how a child is born, we love them all as if they are perfect …all children loved unconditionally no matter what. Just saying that because of this testing, now this sweet mommy and daddy gonna be worried about the future because of these tests. Seems like life was better before all these doctors started all this genetic testing…unless you do the testing BEFORE you conceive and then make your decision to have a child or not. I’m praying for peace and happiness for this family. :pray:t2:

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Also side note I’m not a dr but can lactose intolerance actually be genetic none of my children could have milk as toddlers they still aren’t sure if it lactose or the protein was never addressed in the testing

I had an abnormal test results with a chance of my baby girl being born with Down syndrome. I decided to do a more detailed blood test as well as a more specific ultrasound. They asked if I wanted to get the placenta sample checked but I figured what will happen has already been set. I, myself committed fully to my baby girl and no matter what the results were I decided it wouldn’t change my mind about keeping her. It just changed how I would prepare for her. She was born healthy and perfect to me. It’s scary and I know the fear.

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Me had my husband had to do this , all went well she was fine - hoping the same for you :heartpulse:

Not much help but your not alone ,My lg had bloods done in june and we got a letter in October saying she has a rare chromosome disorder and had an appointment on Friday just gone, easier said than done but try not to worry, I had myself really worked up and after the appointment I realised it was silly as nothing I can do and what will be will be and the doctors will help, when u do get results have a look on unique rare diseases xx

If you are a carrier then it’s not guaranteed that your baby will have whatever it is they’re testing for. That’s why they want to check the father to see if he is also a carrier. Try not to get all worked up and I know it’s hard not to worry but it’s better for the baby if you don’t stress out. You can always test and retest and second opinion and specialist these things.

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Ok first of all, you should ask your doctor’s office about the inconsistencies. As for the genetics test, this is why I opted out of mine. Some things just arent meant to be known. Let God take the wheel and chill out. The stress alone will hurt your baby!

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This is why I refused any testing I wouldn’t even get the test done to see if my kids were down syndrome I wanted to enjoy my pregnancies not stress the entire time because a lot of the time the results are wrong so why put yourself under stress for no reason and if my babies did come out and they have down syndrome or anything else guess what, I would have loved them just the same.

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My doctor said if I wanted to get one done to do it , but If it wouldn’t change what I’d do with my pregnancy then there’s no need bc it stresses a lot of women out when they have nothing to worry about. I didn’t get it done ! I hope everything is good :heart::heart: I’m sure your baby will be healthy especially considering you already have 2 :smiling_face_with_three_hearts:

Okay so it sounds like they ran the genetic testing on the baby to check for Down syndrome etc first and then ran your genetic panel and those are the “abnormal” results they’re talking about. I had the same thing done. I’m a carrier for three different things (non-syndromes hearing loss, alpha thalassemia and something else). It’s normal to be a carrier for a few conditions but the doctor has to tell you about it and it’s good to have the father tested as well to make sure that they don’t carry genes for the same problems because then they’d need to watch the baby for signs of the condition.

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My husband is a carrier for a genetic disease (we knew this from testing when he was younger as his sister had the disease). I got tested when we decided we would have children- I am not a carrier. Therefore we couldn’t have a child with the disease, but its likely our son will be a carrier. In our case, if I had also been a carrier, there was a 1 in 4 chance any children we had would have the disease, and a 100% chance they would be carriers.
I have no idea what you’re dealing with but I hope that might give you some perspective. Good luck :muscle::ok_hand:

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Assume everything will be fine unless confirmed otherwise. Chances are your husband is NOT a carrier (especially with two healthy kids already), thus, no worries! If your child is born lactose intolerant, just avoid lactose! Grocery stores, schools and restaurants are more aware and accommodating now as this is not uncommon. So no worries! If it turns out your child has a chance of another problem, what are the odds? Less than 50% or 1 in 2? Probably won’t happen, so no worries! If it looks highly probable, you have time to read up, line up specialists and make decisions on therapies and medical interventions, and grow your support network to make your and your baby’s life as wonderful as possible. So no worries! And even then, your baby could still beat really bad odds and come out perfect. So no worries! Expect the best, prepare for the worst, and relax. You’ve got this! :sunny::rainbow::kissing_heart:

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With my first my Down syndrome count was 1in 160 - I was 16/17, I worried so much I didn’t enjoy my pregnancy although it wouldn’t have changed how I felt if she was, I would have loved her the same but because of that with my 2nd and 3rd I decided not to get any of those testings - I managed to enjoy my pregnancy’s not worrying! But the dr said whether the Chance is in the 100’s or thousands the 1 chance is still the same xx

From what I can gather the first result was your child’s, the second result was yours? Indicating that those abnormalities could be passed on to your children. Knowing a bit about genetics I honestly wouldn’t worry about it. Genetic testing is new and they still don’t know a great deal about it. I’m sure ALOT of people have some type of a genetic issue and don’t even realise it

I know more than one who has had this happen and they had healthy babies with absolutely nothing wrong.

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What are you a carrier of? The genetic testing in my opinion is something I wish they didn’t do. It’s not always accurate it’s a low percentage of accuracy so sometimes you worry for nothing. I have elhers danlos and it’s genetic my first child has it and my second does not. They felt my second had short femurs and a big head. Well my son is proportioned correctly he was a good sized baby and nothing is wrong with him. His bone structure is flawless etc. I know you are now going to worry until your babes is born. You didn’t say what youre a carrier for besides lactose intolerance

When my mother in law had her last baby they made her do the genetic testing due to her age. The test came back that the baby had severe downs. Two different doctors TOLD her she had to abort the pregnancy. She was like hell no I would love my downs baby just as much as the others. Baby came and there wasn’t a thing wrong with him. Just think she could have aborted a perfectly healthy child if she would have listened to the doctor.

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I’d switch doctors and get another option.

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Although I can’t give advice about the more serious one, I can about the lactose intolerance. My 1st child was born with it and I didn’t know until she was a week old and projectile vomited her formula. She was in the hospital for a few days and eventually grew out of it, no big deal. My 3rd who was born in September also has it-it’s a milk protein allergy so he can’t have anything with cows milk in it and hopefully will be ok in 9 months or so. Could be a life long thing, don’t know yet. This was found out in the hospital and he had to stay in the NICU for 3 weeks. It was the hardest thing I’ve gone through, not being able to bring him home after he was born. He’s on Alimentum and seems to be doing very well. While it was extremely tough to go through, it’s not life threatening if taken care of right away. So whatever it is your baby has-if they even have anything-you will and can handle. You’re a mom and mom’s are so strong! You can adjust and no matter the issue, you’ll love this baby no matter what. Babies are also extremely tough and are little fighters. I wish you all the best and I know you will be ok no matter what the problem is. You and that beautiful baby will get through it, as well as your husband :heart:

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Metachromatic leukodystrophy, research the Leukodystrophy groups, there are over 40 different ones. If the testing were offered 14 years ago I know a family that would still have their little boy. Because of rare diseases and the loss of a child some fight for you to have the option for testing so you do not experience the loss of a child through something as simple as a blood test at birth. A simple blood test at birth will detect Leukodystrophy. Treatment can be given at birth through cord blood and can save that child’s life.

Those test are terrible , I wouldn’t do it when I was pregnant 2 years ago . My doctor told me they are only 50/50 like he said it could say positive and he be born negative or it could be negative and he could be born with it. Try not To stress momma

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I just had nipt testing done a few months ago and they did the regular screening which included downs, gender, ect and then they did a separate gene carrier screening. My gene screening was to look for 300+ possible carrier diseases and it took 2-3 weeks longer to get back. I’m assuming your doctor had both tests run on you and one just took longer to come back.

Doctors like to give the worst case scenario. Take a deep breath and relax. Your other teo kids are doing fine. The baby is already here so enjoy pregnancy and the your other kids cuz life is about to get hectic with a third.

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Same here, but doctor stated if it doesn’t change the pregnancy status then I’m okay! We waited for a child for 15 yrs nothing was going to change our minds. Our son was born just fine!

There’s two tests, one that tests the baby and another that tests you as a carrier. It seems the test for the baby came back normal and YOUR test came back as a carrier for something.

YOUR test results will never change so it’s possible in the past you were never tested OR you had a more updated test that test for more genetic disorders this time around.

It is standard if you come back as a carrier for something, they test dad.

I work for an OBGYN and draw blood for these tests weekly. I would call the triage nurse and just ask more questions to clarify the misunderstanding of the results.

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This also happened to my son with his second child. My DIL found out w second she had a gene and if my son had it the baby would have a terrible disorder. Not only the baby but their older baby would have it too. We had to wait two weeks for results. It was absolutely terrible. The dr said the test wasn’t available 2 years before for the first. Hang in there. With these new genetic testing it is so scary. The chances of both you and your husband having this gene is extremely low. Best wishes.

Sometimes they call to give initial information about the test then someone may check over it in more detail to check for information for state labs or something. It’s important you get tested and find out if you are carriers so that your family can make informed decisions and that you can make decisions regarding the care of your kids. Of course they could be wrong. Stay positive and know you got this no matter what.

Go on with your pregnancy and hand this over to God. My husband has a genetic defect and it’s minor we found out bc he’s 30 and started having issues with his blood work but we caught it and identified it with a liver specialist who ordered a gene test. It could be smthng like that minor. So again, take what they say with a grain of salt. People are not perfect, people are carriers for certain things and yes people do have gene abnormalities. I had to get tested for it also after both our kids came back positive for it also. I am not a carrier but my husband has 2 copies of the gene (a defect) and passed both to them thus making them positive also. Don’t stress and again, don’t put so much weight into what they say etc bc sometimes they get it wrong. Do your due diligence of course but have your healthy baby and get blood tests when needed if needed to see if they carry anything. Do not do amniocentesis as there is a risk of miscarriage with that.

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Iv refused any/all genetics testing. Not like im not gonna keep the baby regardless…

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I have chromosome 18p- and chromosome 13q- and have healthy kids a couple kids have 18p- one kid no chromosome abnormality and one has the same exact deletion and we are all healthy just need some extra attention and ones not even affected that has my 18p- I didn’t know I had it til 27 my oldest is 9 and I’m 30 had her at 20. Ask to consult with MFM genetics counselor for peace of mind to be honest

Make an appointment with your OB, you and your husband go sit down and ask him to lay it all out on the table SO you can understand it all, but they owe you and your husband that much!!!

This happened to my sister. I was born with spinal bifida so all my kids and my sister’s kids have to have special test done to make sure they dont have it cause its hereditary. My sister with her first pregnancy was told her test came back and the numbers were high so her baby had open spine bifida (open is extremely dangerous and life threatening). She cried every day for 2 weeks waiting on the ultrasound. She had a spongy placenta which caused her proteins to leak out and her numbers to go up. Baby was fine and perfectly healthy.

When I was pregnant with my first son they told me he has way to much flood on his brain. I was told he would be a water head baby. Many many times they said best to abort cause he would be blah blah blah. Fast forward he was born a healthy 7 lbs 6 oz and no fluid on his brain. The scans caught my high fluid n mistaken it for his head

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If it’s just you as a carrier, it doesn’t mean your child will have it unless your husband is also a carrier. Im a carrier for cystic fibrosis and the only way my children would end up with it was if their father also was a carrier. I have type 1 diabetes as well and they said there was only a 25% chance my children would have it. Get your husband a genetics test as well and if he isn’t a carrier then relax. They did the same with my older daughter. Her test was fine but i was a carrier and she came out just fine.

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It’s too much of a challenge to get that information over the phone because you’re trying to progress through shock. Make an appointment to discuss it with your doc and have your husband tested, but remember that even in the possibility it’s not a certainty. I have had one come back and tell me down syndrome and the next came back as trisomy 18. We had to go through more intensive testing and both of them are just fine.

Sometimes I think all these tests are inconclusive . As a nurse I tell you don’t stress yourself .God will give you what he wants for you. We depend on tests too much . Be happy about this baby and let god take care of the rest. I think we were better off when these new tests for everything were not around . Your pregnancy should be a happy time .

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Have faith. My doctor also told me my son was going to be born with down syndrome and I should abort…well he is 25 and 100 percent healthy

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Let Jesus take the wheel Dont even think about the test trust in the Lord

I don’t think these tests are always accurate! I wouldn’t worry until you are 100% sure & you can not be 100% sure until baby is born! Don’t stress to much (I know it is impossible not to stress about this situation) just try not to over stress until you know more!

Like my doctor explained. They are probabilities not a definite. They say the probability of you child having something but it doesn’t mean they will. Talk to your doctor and if you still have questions request a consultation with a genetic counselor.

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I have a genetic disorder, my children are carriers. They are perfectly healthy, just carriers. In order for the disorder to be passed on, the other partner has to have the same genetic abnormal chromosome. Mine is rare, a recessive gene from both parents.
I know people sometimes abort babies with my condition but I have lived a very good life.
Please don’t put to much stock into the tests, it’s just telling you that you have an abnormal chromosome. We are not all perfect in the world’s eyes. We are all perfect in God’s eyes.

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Some of those test are wrong

With my third I had the genetic testing done and I didn’t for my first two. I came back as a carrier for a pretty devastating disease, my husband was also supposed to be tested as well to make sure he wasn’t a carrier; but he was out of town so never did. My daughter arrived perfectly healthy just like the first two. At first I was anxious and overwhelmed but I had a feeling things would be fine. We can carry some ugly things in our genetics but odds are in your favor if looking through both of your immediate family line and it hasn’t affected anyone. Not impossible but I wouldn’t worry too much about it if you have two other children together; they had the same odds as this one.

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If there’s a way to, check your results online. Because it’s possible they mixed up results.
If you weren’t a carrier with your last pregnancy, I don’t see how you could be this time. Unless they didn’t test for that specific genetic problem in your last pregnancy.

My daughter was dx with downs on her first ultrasound… went through all the testing and shes perfectly fine

So, shortly after finding out I was pregnant I began spotting. ER Doctor said I was miscarrying and sent me home. Spotted on and off but didn’t miscarry. OBGYN started testing and all the tests were abnormal. Dr said no brain, missing limbs, etc but still pregnant and now too far along to abort. She was a few weeks early but PERFECT! Now she’s 28 years old with a college degree living her normal life. Sometimes doctors are just wrong.

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I don’t think it’s about wrong testing, they likely just did more/different testing than last time. Have your husband get tested and go from there. If he’s not a carrier too you have nothing to worry about and if he is it’s only a percentage they’ll explain that could be affected.

After having three miscarriages, my husband and I had genetic testing done. He is a carrier for a genetic disorder. We were also told that it can cause infertility in men or that I could continue to miscarry and we should probably expect to not have any children naturally. Well we have three healthy children with no additional miscarriages. They came about two years apart and after each one, we felt so blessed and assumed we would have no more. Sometimes God’s plan is bigger. I am not discrediting doctors, but sometimes there is just a bigger plan for you. If you do believe, than have faith that things will be ok and whatever is put in front of you will be the right thing. Hugs and prayers to you💜

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The tests aren’t always accurate so I would get further testing/research so you are prepared but until baby arrives I’d just wait. I’ve seen them come back 100% okay and baby be born and issues there. And then I’ve seen the opposite.

My fiancé and I are also going through testing after the loss of our baby. They told us we were both fine but then called us back and said we were carriers for different things. They had gotten our results mixed with someone else’s, which is why we were told one thing and then another. Positive energy your way momma :heart:

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I was that age with my third. I had a 13 year old and 11 year old but I refused test because I truly believe that if God gives me a child with problems he will give me strength to raise that child. I signed a mountain of paperwork saying the dr offered tests but I refused them. I would do it again.

My genetic testing came back the same and nothing is wrong with my baby. I was so worried literally to the point I was sick and nothing is wrong with him. I did have to see a high risk doctor and had extra ultrasounds my whole pregnancy just to monitor him and just to make sure nothing was over looked .
The high risk doctor explained it as there may not have been enough of babies dna or anything . I hope this gives you hope💜 prayers for you and baby

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Hi,
I’m currently pregnant with my first, he has cleft lip and palate. So we got referred to Maternal Fetal Medicine. When genetic testing was offered to us, they explained that multiple test would be ran after blood was taken ( they gave me the option to test amniotic fluid, but it’s to late in my pregnancy) anyway, my doctor said that they would get general results then go more in depth. Doctors jobs are to tell you worst case scenario, I know from what I’m experiencing that it’s scary, but they have to go over the worst possible things so that if they do come up it’s not a complete shock. No matter what I know you will love your baby just the same, and it’s completely natural to beat yourself up for a little while. But please remember that no matter what you think at the time, it’s not your fault! You did nothing wrong.

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Trust in God :heart: thats all you need

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I will never do the testing again. Mine came back that my daughter was going to have down syndrome and other health issues. Guess what she’s 9, A honor roll, and absolutely nothing wrong with her. I stressed for 6 months about nothing.

If I were you, I would call the doctor back and ask them to explain why they told you that your test was normal and it’s not. Maybe you can even ask to be retested to confirm. Either way your husband should be tested to see if he’s a carrier. I know it’s hard but try to remain calm. This whole thing could be a mix up. You had genetic testing with your 2 year old and they didn’t find out at that point that you were a carrier for 2 genetic diseases? Honestly you should probably see if they can retest you when they test your husband. Good luck.

I personally do not get these tests. No matter what the doctor says or doesn’t say. They aren’t always accurate and they are just going to put extra stress on the mother to be and worries the father. When i was pregnant with my third, a friend of mine told me her sister in law had this test done and all this stuff came back that wasn’t looking good. She worried the entire pregnancy and delivered a very happy and healthy baby. Take the results with a grain of salt and what’s meant to be will be.

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Lactose intolerance isnt bad what is the other on. Go get test redone. Demand it

Granny. Your baby is fearfully and wonderful made. Leave it all in the lords hands.

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Our genetic testing came back with abnormalities as well . They told us one of us was a carrier fof something called CAH congenital agential hyperplesia meaning it would stunt our babies growth something to do with male hormones snd such we where worried sick . We where in the nicu for awhile thinking the worst turns out nothing was wrong and now i have a crazy 3 yr old toddler who keeps me on my toes and is perfectly happy and healthy. Dont fret momma . And dont worry until the worst is actuallu confirmed

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I knew a lady who was pregnant w her 6th child…her 1st girl…dr said genetics test came back abnormal w something serious(blood disease I believe) and told them they should abort…they said hell no…lady was in hospital most of pregnancy…baby was born completely healthy and nothing wrong at all!! imo. Yes it matters bc you will need to have a plan in place for caregiving…but really it d oil sent matter as long as you will love baby no matter what…Prayers for you, baby and family my friend!!

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Why not call your drs office and ask them??

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I’m granny, had to let you know your family will be in my prayers. I’m on my sons Facebook. He’ll be mad, but he’ll get over it.

If you’re worried, I would advise waiting until around 16 weeks and having the amniocentesis test done! It will be able to better identify exactly what if any condition your baby may have! We did the testing and pin pointed the exact condition and issues my baby may have. A target ultrasound also helped to back up the data!

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Was the disease called “Spinal Muscular Atrophy” or “SMA”
Because this is exactly what happened to me. They said everything was normal then 2 weeks later called saying I’m a carrier for this and that my husband needed to come get tested. It terrified me until I understood so if that’s what you have to, let me know and I’ll help you out :heart:

This is seriously why I have opt out of those damn test thru all of my pregnancies not worth the stress you put on yourself or the baby thru.

I did the genetic testing and they had me meet with a geneticist a couple weeks later. They said my daughter had 1 of 2 birth defects and more testing had to be done to find out. Turned out to be the less severe out of the 2. I definitely suggest not freaking yourself out. Don’t google. Do your best to enjoy! It’s out of your hands. I know it sucks but now that you know, you can make the best out of! Even if it’s not clear, make the best out of the pregnancy until you do know. Take your time after results to flip the f out. And then accept it, nothing you can do.

Keep in mind these tests are flawed but they can save babies lives!

I am a CF carrier, my husband had to go get tested and is not. One of the scariest times but everything will be OK.

My genetics testing told me my son was more likely than not to have a chromosomal defect. He is now 2 & 1/2 and very healthy, happy and smart. He has no signs of Any defect what so ever.

Don’t stress…they did the same thing with me a little over three years ago. I had one who was 20, and two more who were 5 and 6 at the time. They came back told me I was a carrier and my husband needed tested. He got tested and they let us know we were both carriers. We already had two kids so we pretty much knew the chances. (We had two together and a total of five.) Low and behold our last one was fine. I hate that I even tested with my last one. Fringe 39 I was under enough press without the doctors and their nonsense testing.