Hello..I had this test and found out my baby had pateu syndrome 😔 The heartbeat stopped at around 14wks 😔 I'll always remember my sweet baby..I wish I had the chance to meet you❤ But God gave me another gift..I'm now 15wks and had this test again and it came back negative 🙏 baby is doing great..I'm gonna keep praying that baby is super healthy ❤
Had our cell free analysis drawn today! Got to see baby jumping around during ultrasound for the first time. After our first pregnancy ending in miscarriage, baby's jumping around meant the world to me
So my DIL just got called about her genetic testing lab draw . She was told the sex could not be determined . She was 13 weeks when drawn . They referred her to a fetal maternal specialist . Told her it was not trisomy 23 13 , or 18 . Had there ever been babies normal , with abnormal screening test . We are so sad . Not that we will not love this baby ! But it’s not what we were expecting 😢
Same here! It made me cry my eyes out to see such a healthy little nugget rolling around kicking its little arms and feet everywhere. Ultrasounds make my anxiety go down because I can her and hear babies heartbeat and I can see baby moving. Once I can feel the kicks and movement I know everything will get easier anxiety wise. Miscarriages are some of the hardest things to go through. 😭❤️
Thank you so much for this info! I've been feeling like my ob is rushing through this info and they're such big words, it was all so hard to follow. This broke it down really clearly for me 💜🙏
My baby was diagnosed with T21 at birth. He’s almost 1 now and hasn’t had any of the health problems always listed with a T21 diagnosis. He hasn’t even had a sniffle 💪
Thank you for doing all these videos! Hearing all this ans getting it broken down makes it so much easier to understand and at least for me has helped calm the anxiety! 6 weeks pregnant getting confirmed in 3 weeks cross your fingers guys!
You are so welcome. We love to hear that it is helpful and hopefully gives you a good foundation to start some discussions with your OB about what is best for you!!
We feel the same way. I would want to know ahead of time so I could be as prepared as possible for the needs my kiddo might have. And to connect with our moms and dads who have kids with a similar issue for support and advice.
I admire this if my child had a disorder i would terminate. Because I know im not equipped to take care of a child with a disorder. Im not ready to spend the rest of my life with a dependent or drive rifts in my realtionships over the existence of my child who has no awareness of the world. I just feel terrible to put them in a group home or nursing home when I can no longer take care of them. I've thought about it alot and I'd just celebrate them as my child but allow them not to experience this cruel world. Its a hard choice and I think thats why its such a deep pain.
In case it helps anyone having twins, I recommend getting your cell free DNA test through Natera or Harmony and not Labcorp (in the USA). The tests measure something called fetal fraction, which is the percentage of dna in the sample coming from the fetus as opposed to the mother. There is a minimal fetal fraction of something around 4% in order for the test to be meaningful. If you are having twins (dizygotic) it is possible (although rare) that one twin contributes more dna than the other. Labcorp deals with this by doubling the minimum fetal fraction required for a passing test. Natera and Harmony both measure the fetal fraction of each twin. Doubling the minimum, while helpful doesn't give you as much information. I got the Labcorp test (hospital contract with Labcorp?) and I struggled to get details about the test in addition to terrible customer service (no call backs, voicemail full). Fortunately, a genetic counselor at Yale New Haven Health helped us schedule a Natera test, which we will pay for out of pocket.
@@shawnyshawnz928 I have fraternal twins. I’m not sure if you have to worry about this if you have identical twins. They are genetically identical so I would imagine that tests can’t tell how much dna is coming from each twin.
Information on these screening tests is confusing. For example, the NIPT that I took at 12 weeks is considered a screening test - not diagnostic, yet the accuracy is 99%? I kept going back with the genetic counselor on this because my test came back positive for trisomy21 at 76.1%. So to my understanding it means 76.1% chance of a true positive. But the genetic counselor was certain that the positive result was accurate for trisomy 21 and made it sound like it was a for sure thing, yet kept assuring us that it's just a screening test, and our risk increased because our NT scan came back at 3.2mm which is higher than average so now we're doing an amniocentesis in a couple of weeks for some definitive answers. How can something be used for screening also be accurate at the same time? The way doctors use these tests make no sense... honestly. I have a friend who screened 90% for trisomy21 and her amniocentesis came back negative! Why risk the uncertainty when there are diagnostic tests that can give tangible answers vs the "unknown"? If I had to do this all over again, I would have skipped the NIPT genetic test and requested a CVS or amniocentesis to get real answers right away. Now I'm playing the waiting game. I've been reading case studies, forums, support groups and what these genetic tests do is cause more confusion and anxiety, so what's the real benefit?
One of the benefits is that it isn’t invasive the way an amniocentesis might be (though the risk is very small). Abnormalities can also be recognized earlier in the pregnancy.
I got this test done a few days ago and I was just wondering how accurate the test is to tell you the gender? . I know when we find out I'm going to want to buy things so I just want to make sure. This is the first time I'm getting this test done and it will be baby #3!
I have Treacher Collins Syndrome and in my 8th weeks of pregnancy. There’s a 50% chance my baby will get it and I’m sooooo nervous to know whether my baby will have it or not. Either way it goes , of course I’ll love my baby the same. Just know it’s makes life kind of difficult but not impossible.
Thanks for the info. Going crazy here waiting for the results during week 12. Two doctors already said it's probably a boy, after believing since the beginning it's a girl. Just hopping it's healthy.
Really informative and the plain English approach to your videos are really helpful. If there are already incidences of down syndrome in one side of the couples family, is there a way in medicine currently to test the 'potential risks' for the couple to conceive a child with chromosomal abnormalities prior to conceiving based on parents own genetic makeup?
I’m 39 yrs old, my partner is 44. I’m currently 12 wks 2 days pregnant. My provider did Maternit21 when I was 10 wks 3 days gestation and I was told the baby tested positive for trisomy 21 and I haven’t been given any further information or plan going forward. I’m devastated.
I hope you've been able to find more information! It must be devastating to be told such news with no information on how to proceed, although I think it's also understandable that practitioners may be wary of swaying parents' decision one way or the other. You may want to look at some websites specifically for parents in your situation, with forums that you can participate in! I have to say, though, that most of the people I've seen with Down syndrome can lead perfectly good lives without any intensive or invasive medical care. They may need physical or speech therapy and take longer to learn things, but that's about it. Maybe some medical conditions can occur too, but I don't think there's anything that would require going in and out of hospitals regularly with emergencies and surgeries and life support -those things would be my biggest fear and concern if I were told that my child would be born with some sort of medical condition or abnormality.
@@catinabox3048 I’ve done research online but the drs I’ve seen basically have told me based off that blood test alone to expect a Down syndrome child and to weigh my options. I did have an amniocentesis this week so I’m waiting to see what the results are.
@@kbm124 I stopped going to the MFM specialist. It began to feel like all I was getting was bad news and being reminded of my “options” as far as either choosing abortion or placing my baby up for adoption. I’m currently 29 weeks and baby has had normal heartbeats at my appointments with my obgyn. I’m doing pretty good with the exception of struggling to keep my iron and vitamin D up. Otherwise, things are going okay. Thank you for asking!😇
Hello doctors ! I’m going into my 12th week and my hubby and I decided to opt out of genetic testing because I have bad anxiety and if we found something bad I’d be a nervous reck the entire pregnancy. I’m I putting the baby in harms way for choosing to not do the testing ? Are there any abnormalities that can be caught early and fixed in the womb ?
Thanks for asking. You are not putting baby in harms way by opting out of genetic testing and it is so good that you know yourself well enough to know that this would just create more anxiety for yourself. The biggest part of genetic testing is having more time to plan for whatever potential abnormalities might be found. Some people really like the advanced warning, but a lot of people are just like you and don't want the added anxiety of knowing early. The other part of this screening is that for some people, certain results from prenatal genetic testing would help them consider termination before baby got any bigger which could potentially make that process more complicated. There are very few things caught on prenatal screening that could be potentially fixed in the womb currently (ie certain neural tube defects are being repaired before birth at some centers). Unfortunately, most birth defects and genetic conditions cannot be 'fixed' in the womb.
@SMith2013 wish you good. I was waiting for results and it's really stressful to think that your little may have a genetic disorder But everything was negative and I am relieved.
We decided to opt out too. It won’t change the outcome and will just cause unnecessary stress during pregnancy. The only thing we’ll check is neural tube, since it seems that in some cases, some medical help is possible before the baby is born.
You are welcome! Glad it was a little helpful. The recommendation is to wait until at least 10 weeks to do cell free fetal DNA testing (Myriad Prequel prenatal screen, MaterniT21, Natera, Invitae are some of the more common companies) to make sure their are enough FETAL cells in mom's bloodstream. If you do it too early, you can get a "no call" result. The first trimester screen you do between 11-13 weeks. So just depends on what test they ordered!
More offices should conduct fetal rhesus testing for Rh- moms as well. To better determine if Rhogham is something to consider or not. Since there is a history of women being infected with hepatitis in Ireland. (It’s in the scientific literature. They didn’t know until decades later) The packaging stated there is a risk the shot may be contaminated. They deactivate viruses they know about. So moms and providers can make an informed decision. Many countries test, but seems to be more difficult here in the USA
My clinic at city fertility Notting hill failed to tell me I had chromosomes abnormalities in May 2022 when I had completed the test then . They told me 8 months later in 2023 that I had it only because I was transferring to another IVF clinic as I was unhappy with the service /nurse . They told me after an embryo transfer in November and a miscarriage in December. I lost the baby at 6.5 weeks They refused to refund me . They literally said they missed my results and had “ assume” I was ok .
Our 1st prenatal genetic screening: nucheal trans ultrasound looked good (2), but the bloodwork came back saying high risk of 1 out 90. Dr is sending me for the NIPT test. Now I'm worried...looking for reassurance...🙏
Hello, I had an OB appointment but I don’t know what is that for and what to expect or the going to do ultrasound on the OB appointment?? Please explain me more
What is the difference between Myriad Prequel screen and the Integrated Test? I received pamphlets for these 2 tests but they seem to test for the same things so I’m not sure what the differences are.
Myriad Prequel screen is a "brand name" for cell-free fetal DNA that we talk about at 10:05. You are right--the tests both are testing to see what your risk is that your baby has a chromosomal abnormalities. Cell-free fetal DNA is more accurate, but sometimes insurance doesn't cover it and it is very expensive.
Sorry on my daughters account we had high Michal translucency but our blood test came back negative for everything. After the ultrasounds went good until week 24 the doc came in and said single blood vessel in umbilical cord and a small nose bone so they think downs. Baby is very none photogenic and they got a quick side profile picture, what has me confused is fetus had prominent paw bone in other ultra sounds. So confusing and heart wrenching.
Could you share the citation for the chromosomal abnormalities table you showed at around 5:30 in the video? Also when it comes to the sex chromosomal abnormalities are there others that are simply less common? I know there are many many disorders beyond those listed, so my question are those included or it is just looking at the 5 listed?
[Academic curiosity] According to the video, 1 in 150 live births have a genetic abnormality. So, 1 in 150 in the population in USA have a genetic abnormality assuming the chance has not changed much in the last 100 years. Seems very high unless most of the abnormalities do not show a major effect.
True! Sex chromosome aneuploidies don't, generally speaking, have a huge effect on somebody carrying them. People with Turner's or Klinefelter's are typically diagnosed during childhood, but you often wouldn't necessarily notice something "wrong" with that person. 47XXX and 47XYY are not diagnosed at all in a majority of cases, but, of course, somebody has at some point tested a larger population. Now, that's why you can't/ should not mix these conditions together with T13, T18, T21, which do have huge effects... Oh, and, yes, the chances have indeed changed a lot in the last 100 years, abortion rates for Down's are 90 percent plus. And: children with T13 or T 18 typically die very early on, which is another factor.
I’m so confused on genetic testing , fragil x and nipt ? Are they all the same ? My genetic testing came back low risk but I’m wondering if I need to ask to do a fragil x and nipt test too ?
I did a pregnancy test and it was positive and I went to see doctor and he give me a prescription prenat and now I have an OB appointment and I don’t know what exactly is for. Are they gonna do the ultrasound or there is anything else please explain to me more what to expect in that appointment
My nt value is 4 mm by one doctor one doctor said 2.2 cord around neck and mild trivial intermittent tr what is the risk .. I am waiting for my nipt result
There is preconception genetic testing that can be incredibly helpful in knowing if you and your partner are carriers for a rare disease. Depending on how a particular gene expresses itself, if you and your partner both have a particular gene (or even if just one of you has it) there’s a chance you could pass it on to a future baby. We did this testing too. There are actually options for parents who have certain gene mutations or genetic disorders to screen their embryos to keep from having children with the same mutations/disorders.
What NIPT would you recommend for obese women as I know the fetal fraction might be lower in these patients. Your response would be greatly appreciated
You are correct. I actually did a quick lit search to see if one company is better than another, and none of the 13 commercial NIPT providers provided specific recommendations. None of them report their no-call rates for obese patients either, so it is hard to recommend one over the other. I think the best bet is to make sure not to draw it early (sometime after 10-11 weeks) and to discuss with your provider what you next steps would be if you got a no-call result. Would you want to have an amniocentesis done to confirm, would it cause you a lot of anxiety if you didn't get a conclusive result? Just some things to think about. Talking through the other options--first trimester screening with a nuchal, integrated screening, etc--with your doc is a good idea too.
Thank you so much for this detailed response. It appreciate it more than you can imagine. One follow up question that would really help if you can let me know your thoughts on. I read that the brand Verifi by illumina might a brand that has a very low no call rate: they say “99% of people get results” but I don’t ever hear anyone talking about that brand. Is it even still commercially used and do you have any feedback on that brand ? Thank you
Hello my baby boy was born last year and at birth he was diagnosed with t21. I’m currently pregnant again and did NIPT twice and it came back negative both x. I’m just wondering if I should rely on the NIPT n not do Amnio. I’m a little scare of amnio but I don’t know.
Thank you so much for the video, Doctors! I have a question; Can something happen to chromosomal composition between week 10 and 15? I tested low risk on NIPT 1:10,000 *fetal fraction 7.1% at 10 weeks . However, quad test showed high risk Trisomy 21 (1:118) and Trisomy 18 (1:68). 20 week’s anatomy scan is normal. NT was never done. I just want to know if something could go wrong during pregnancy between week 10 and 15? When do the chromosomes stop the arrangement? *Im not trying to get a medical advice. Just trying to collect more info. Thank you very much!
What is a unity test today I had my 12 week check up and they told me I was going to get labs done and I was going to get unity lab work done I asked him what that was and they said it’s for genetics I’m still confused 😐
As professionals with a platform and such a large following as yours, I'm disappointed that you didn't spend much if any time stressing the point that there is no right or wrong choice regarding continuing or not continuing a pregnancy, upon diagnosis of a serious chromosomal abnormality. Thousands of people make the difficult choice not to continue pregnancies due to these diagnoses every day, and it's disappointing that you stated that it wouldn't change the outcome for you, and left it at that.
In reality there is a right or wrong choice regarding continuing or not a pregnancy. If parents decide to interrupt the pregnancy particularly if the life of the mother is not in danger, then one could argue that they’re taking the life of their child, so it’s not only wrong, but horrific. Nobody should ever judge the parents who decide to do so though, as it’s a very difficult life circumstance and the parents should make their own decisions. But let’s be adults and not lie to ourselves that there is not right or wrong here …
@@katiaray3516 "Nobody should ever judge the parents who decide to do so though" - except the hilarious thing is that your comment could not be more judgmental if it tried. It's also a very puerile way of looking at things. Let's be adults and realise that there is no end to the nuance in these situations, all kinds of women and men affected by these things, all kinds of situations, diagnoses and life circumstances. There's actually no right or wrong with abortion, just what's right for the couple having to face and live with the situation and it's really no-one else's business.
There are some classic findings on the 20 week ultrasound that can be consistent with certain chromosomal abnormalities, but it is not diagnostic. In other words, the ultrasound is really good at finding structural defects, but could miss some genetic abnormalities if they weren't associated with big visible changes.
I am 20 week 4 days pregnant. Can i go to cell free DNA test now at this stage? Can i find out any abnormalities and can i go further treatment? If i found any abnormalities? What you suggest at this stage?
I have had 3 miscarriages...and I am now pregnant for the fourth time..I had each miscarriages around 15 weeks...all of them is for the same guy...what do u suggest? Am very worried...please reply.
Hi, I had the cell free DNA testing or panorama test around week 12 and it came back negative or low risk for all genetic defects. Now I’m in week 20 and my midwife ordered me another test the mss to detect spina bifida ( she let me know ahead of time that this test also includes testing for Down syndrome, which comes back with a lot of false positives. Mine did come back as high tick for Down syndrome but I didn’t think much of it because she warned me ahead of time) one week later after getting the results, I got a call that they need to speak with me. Now I’m very worried… would you be able to tell me what you think about this…
My OB is so booked out she does not even see her patients until 15 weeks GST. There are only 3 providers in the practice, and none offered these tests due to lack of resources.
My NIPT result came 1/117 chance for Down syndrome and I should do amniocentesis! Please let me know how much this test is correct? Do I have any hope?
Hello, I recently got my results from my Alpha Fetoprotein Pregnancy test and it came out positive for Down syndrome. When I was early on I had NIPS genetic test done and it came out negative on Down syndrome. Which test is more accurate?
They should of started with any type of testing on the first day of your appointment..Maybe you should ask I got ultrasound, blood test, urine check at 7 weeks my first pregnancy appointment
hlo dr...i had done my anomaly scan on 20 weeks of gestation...my baby NT IS 5.1mm and nasal bone length is 6mm.it is normal?after that i had dine NIPT on 21 weeks and result is low risk...plz tell me dr it is normal for my growing baby....iam soo worried 😢
Invitro blastocyst stage testing can be done to allow parents to not only know at that stage about many genetic miscodes, but also gender. Parents can select which gender blastocyst is implanted. Designer babies with specific eye and hair color are probably already being born to parents who can afford the high cost of a designer baby.
Me and ma boyfriend are 25&32 yrs old, non of us have heard any history of down syndrome in the family history. But we are mixed mixed match, African-European. I got one question I really need help with, Is there high chance for the mixed couple to have a baby with complications?? I'm 7 weeks pregnant now, so stressed up about the test issues, I can't really stop thinking about what the outcome will be,. I will really appreciate if I get any help on this 😊
Hello..I had this test and found out my baby had pateu syndrome 😔 The heartbeat stopped at around 14wks 😔 I'll always remember my sweet baby..I wish I had the chance to meet you❤ But God gave me another gift..I'm now 15wks and had this test again and it came back negative 🙏 baby is doing great..I'm gonna keep praying that baby is super healthy ❤
Praying for you & your family! Your faith in God is astounding! 🤍
@@oliviapayne8658 Thanks so much for your kind words 💌..I'm now 26wks a baby is doing great 😊
We will pray for your and your baby’s health from India. Good luck!
@@preetikapil5141 bless your heart ❤ I'm now 28wks 😊 Thank you 💌
Sorry for the loss of your baby on the last pregnancy !! And praying this pregnancy results in a healthy baby and mommy!!! 🙏🏼
I love how they switch from their doctors outfits to their regular clothes/parents to be depending on the perspective or information they are sharing
Had our cell free analysis drawn today! Got to see baby jumping around during ultrasound for the first time. After our first pregnancy ending in miscarriage, baby's jumping around meant the world to me
I felt this so much 😪 i can definitely relate
So my DIL just got called about her genetic testing lab draw . She was told the sex could not be determined . She was 13 weeks when drawn . They referred her to a fetal maternal specialist . Told her it was not trisomy 23 13 , or 18 . Had there ever been babies normal , with abnormal screening test . We are so sad . Not that we will not love this baby ! But it’s not what we were expecting 😢
🥹🙏
Same here! It made me cry my eyes out to see such a healthy little nugget rolling around kicking its little arms and feet everywhere. Ultrasounds make my anxiety go down because I can her and hear babies heartbeat and I can see baby moving. Once I can feel the kicks and movement I know everything will get easier anxiety wise. Miscarriages are some of the hardest things to go through. 😭❤️
Thank you so much for this info! I've been feeling like my ob is rushing through this info and they're such big words, it was all so hard to follow. This broke it down really clearly for me 💜🙏
Your video is so informative, and I love how you break it down for a better understanding. Thanks doctors🙏❤
My baby was diagnosed with T21 at birth. He’s almost 1 now and hasn’t had any of the health problems always listed with a T21 diagnosis. He hasn’t even had a sniffle 💪
Thank you for doing all these videos! Hearing all this ans getting it broken down makes it so much easier to understand and at least for me has helped calm the anxiety! 6 weeks pregnant getting confirmed in 3 weeks cross your fingers guys!
My early screening came up with "Turner's " syndrome. I then did amnio and baby was negative! for Turner's.
That’s scary. People are making decisions to terminate based on screening tests.
@@donniedarko448 that’s why I didn’t do them!
Congratulations
Fantastic information. This helps with what questions to bring up with my OB GYN this coming week. Thank you
You are so welcome. We love to hear that it is helpful and hopefully gives you a good foundation to start some discussions with your OB about what is best for you!!
If my baby showed increase risk I would still learn about the disorder. But it would not change my choice of having my baby she will still be loved.
We feel the same way. I would want to know ahead of time so I could be as prepared as possible for the needs my kiddo might have. And to connect with our moms and dads who have kids with a similar issue for support and advice.
I admire this if my child had a disorder i would terminate. Because I know im not equipped to take care of a child with a disorder. Im not ready to spend the rest of my life with a dependent or drive rifts in my realtionships over the existence of my child who has no awareness of the world. I just feel terrible to put them in a group home or nursing home when I can no longer take care of them. I've thought about it alot and I'd just celebrate them as my child but allow them not to experience this cruel world. Its a hard choice and I think thats why its such a deep pain.
In case it helps anyone having twins, I recommend getting your cell free DNA test through Natera or Harmony and not Labcorp (in the USA). The tests measure something called fetal fraction, which is the percentage of dna in the sample coming from the fetus as opposed to the mother. There is a minimal fetal fraction of something around 4% in order for the test to be meaningful. If you are having twins (dizygotic) it is possible (although rare) that one twin contributes more dna than the other. Labcorp deals with this by doubling the minimum fetal fraction required for a passing test. Natera and Harmony both measure the fetal fraction of each twin. Doubling the minimum, while helpful doesn't give you as much information. I got the Labcorp test (hospital contract with Labcorp?) and I struggled to get details about the test in addition to terrible customer service (no call backs, voicemail full). Fortunately, a genetic counselor at Yale New Haven Health helped us schedule a Natera test, which we will pay for out of pocket.
Heyyyy? Do you have identical twins ? I have so many questions. How much was the test also .
@@shawnyshawnz928 I have fraternal twins. I’m not sure if you have to worry about this if you have identical twins. They are genetically identical so I would imagine that tests can’t tell how much dna is coming from each twin.
@@sjulliette right ! I’m having identical twins . I’m trying not to worry but when I did the NIP everything was low risk .
Natera test was something like $350 oop, btw. Way cheaper than what my insurance paid Labcorp.
I’m 27 weeks with my first baby girl, I went into my first very appointment until 20 weeks, shortly after I had the genetic screening
I am 10 weeks today thank you for all the information
Sofia-- You are so welcome! Glad it was helpful. Let us know if you have any more questions. Hoping you have a smooth pregnancy.
Y’all are so easy to watch! Still obsessed with the cartoon.
Aw thank you! Glad you like it!!
Information on these screening tests is confusing. For example, the NIPT that I took at 12 weeks is considered a screening test - not diagnostic, yet the accuracy is 99%? I kept going back with the genetic counselor on this because my test came back positive for trisomy21 at 76.1%. So to my understanding it means 76.1% chance of a true positive. But the genetic counselor was certain that the positive result was accurate for trisomy 21 and made it sound like it was a for sure thing, yet kept assuring us that it's just a screening test, and our risk increased because our NT scan came back at 3.2mm which is higher than average so now we're doing an amniocentesis in a couple of weeks for some definitive answers. How can something be used for screening also be accurate at the same time? The way doctors use these tests make no sense... honestly. I have a friend who screened 90% for trisomy21 and her amniocentesis came back negative! Why risk the uncertainty when there are diagnostic tests that can give tangible answers vs the "unknown"? If I had to do this all over again, I would have skipped the NIPT genetic test and requested a CVS or amniocentesis to get real answers right away. Now I'm playing the waiting game. I've been reading case studies, forums, support groups and what these genetic tests do is cause more confusion and anxiety, so what's the real benefit?
One of the benefits is that it isn’t invasive the way an amniocentesis might be (though the risk is very small). Abnormalities can also be recognized earlier in the pregnancy.
Thank you for this video! There are very informative. I like to hear it from you as a mom and dad to be and also are doctors.
Glad you like them and thanks for saying hello!
That intro was phenomenal 😄😄
I got this test done a few days ago and I was just wondering how accurate the test is to tell you the gender? . I know when we find out I'm going to want to buy things so I just want to make sure. This is the first time I'm getting this test done and it will be baby #3!
Were the results accurate ?
@@emmeau yes, they were!
Hi Marie, whether the results are accurate
@jeer7996 yes, they were accurate
Are these screenings and tests covered by insurance? How much are they without insurance?
I have Treacher Collins Syndrome and in my 8th weeks of pregnancy. There’s a 50% chance my baby will get it and I’m sooooo nervous to know whether my baby will have it or not. Either way it goes , of course I’ll love my baby the same. Just know it’s makes life kind of difficult but not impossible.
Really helpful thank you. My gynae mentioned the blood test at week 10 and we weren’t sure what to do. I definitely will go ahead…. Costs £600 in UAE
It’s pointless. There are so many women who are told their baby will have downs and then the baby is born and is 100% fine
@@bellaevans4488 oh really didn’t know that! Done now anyway for peace of mind :)
Thanks for the info. Going crazy here waiting for the results during week 12. Two doctors already said it's probably a boy, after believing since the beginning it's a girl. Just hopping it's healthy.
On the reports, did it say FETAL SEX consistent with boy or , just clearly tell you what you are having,
Thanks
Thank you for this explanation!
Really informative and the plain English approach to your videos are really helpful. If there are already incidences of down syndrome in one side of the couples family, is there a way in medicine currently to test the 'potential risks' for the couple to conceive a child with chromosomal abnormalities prior to conceiving based on parents own genetic makeup?
Yes there’s preconception screening
@@immastarrrr15 thank you very much.
Very timely information thank you so much!
You are so welcome!
What is your opinion on genetic testing with an IVF pregnancy where the embryo tested euploid?
Was the sneak peek accurate?
I’m 39 yrs old, my partner is 44. I’m currently 12 wks 2 days pregnant. My provider did Maternit21 when I was 10 wks 3 days gestation and I was told the baby tested positive for trisomy 21 and I haven’t been given any further information or plan going forward. I’m devastated.
I hope you've been able to find more information! It must be devastating to be told such news with no information on how to proceed, although I think it's also understandable that practitioners may be wary of swaying parents' decision one way or the other. You may want to look at some websites specifically for parents in your situation, with forums that you can participate in! I have to say, though, that most of the people I've seen with Down syndrome can lead perfectly good lives without any intensive or invasive medical care. They may need physical or speech therapy and take longer to learn things, but that's about it. Maybe some medical conditions can occur too, but I don't think there's anything that would require going in and out of hospitals regularly with emergencies and surgeries and life support -those things would be my biggest fear and concern if I were told that my child would be born with some sort of medical condition or abnormality.
@@catinabox3048 I’ve done research online but the drs I’ve seen basically have told me based off that blood test alone to expect a Down syndrome child and to weigh my options. I did have an amniocentesis this week so I’m waiting to see what the results are.
@@adriyolanda6702 Good luck!! I am sending positive thoughts your way!
@@adriyolanda6702 how is everything with your pregnancy going ?
@@kbm124 I stopped going to the MFM specialist. It began to feel like all I was getting was bad news and being reminded of my “options” as far as either choosing abortion or placing my baby up for adoption. I’m currently 29 weeks and baby has had normal heartbeats at my appointments with my obgyn. I’m doing pretty good with the exception of struggling to keep my iron and vitamin D up. Otherwise, things are going okay. Thank you for asking!😇
How long does it take to get the results of these tests? Same day as the doctors appointment or a few days later?
Usually for the genetic test is 10 to 15 days. At least that's what I was told here in Canada
Hello doctors ! I’m going into my 12th week and my hubby and I decided to opt out of genetic testing because I have bad anxiety and if we found something bad I’d be a nervous reck the entire pregnancy. I’m I putting the baby in harms way for choosing to not do the testing ? Are there any abnormalities that can be caught early and fixed in the womb ?
Thanks for asking. You are not putting baby in harms way by opting out of genetic testing and it is so good that you know yourself well enough to know that this would just create more anxiety for yourself. The biggest part of genetic testing is having more time to plan for whatever potential abnormalities might be found. Some people really like the advanced warning, but a lot of people are just like you and don't want the added anxiety of knowing early. The other part of this screening is that for some people, certain results from prenatal genetic testing would help them consider termination before baby got any bigger which could potentially make that process more complicated.
There are very few things caught on prenatal screening that could be potentially fixed in the womb currently (ie certain neural tube defects are being repaired before birth at some centers). Unfortunately, most birth defects and genetic conditions cannot be 'fixed' in the womb.
@@TheDoctorsBjorkman thank you very much !!!!
@SMith2013 wish you good. I was waiting for results and it's really stressful to think that your little may have a genetic disorder But everything was negative and I am relieved.
We decided to opt out too. It won’t change the outcome and will just cause unnecessary stress during pregnancy.
The only thing we’ll check is neural tube, since it seems that in some cases, some medical help is possible before the baby is born.
We did a sneak peak, and it was correct. Did yours end up being correct?
What week does my obgyn does all the test
Is there a reason why doctors prefer to have the NIPT done until week 16?
Hello what is the name of the test again
Thanks this is informative.. My Dr didn’t tell me much but just wrote the order for genetic test.. so u cant have it done til 10 weeks? Thank you
You are welcome! Glad it was a little helpful. The recommendation is to wait until at least 10 weeks to do cell free fetal DNA testing (Myriad Prequel prenatal screen, MaterniT21, Natera, Invitae are some of the more common companies) to make sure their are enough FETAL cells in mom's bloodstream. If you do it too early, you can get a "no call" result. The first trimester screen you do between 11-13 weeks. So just depends on what test they ordered!
More offices should conduct fetal rhesus testing for Rh- moms as well. To better determine if Rhogham is something to consider or not. Since there is a history of women being infected with hepatitis in Ireland. (It’s in the scientific literature. They didn’t know until decades later) The packaging stated there is a risk the shot may be contaminated. They deactivate viruses they know about.
So moms and providers can make an informed decision. Many countries test, but seems to be more difficult here in the USA
Really awesome to hear about the blood test option as ultrasounds are harmful
Hi Doctors, can you discuss receiving a non-conclusive result on a cell free blood exam? Specifically for twins.
Talk to a genetic counselor, hope your pregnancy ended well
I'm taking the test in a few weeks
My clinic at city fertility Notting hill failed to tell me I had chromosomes abnormalities in May 2022 when I had completed the test then . They told me 8 months later in 2023 that I had it only because I was transferring to another IVF clinic as I was unhappy with the service /nurse . They told me after an embryo transfer in November and a miscarriage in December. I lost the baby at 6.5 weeks
They refused to refund me . They literally said they missed my results and had “ assume” I was ok .
Our 1st prenatal genetic screening: nucheal trans ultrasound looked good (2), but the bloodwork came back saying high risk of 1 out 90. Dr is sending me for the NIPT test. Now I'm worried...looking for reassurance...🙏
Any update? Me and my wife are in the same situation would love reassurance
@@Pobethe21st our results came back low risk 👍🏻
@@GenerationYoga thank God!!!! Hope the best for you and your family!!! Thank you so much for responding me and my wife are really emotional right now
@@Pobethe21st thank you. Keeping you in my prayers.
Which Brand of NIPT test did you do?
Hello, I had an OB appointment but I don’t know what is that for and what to expect or the going to do ultrasound on the OB appointment?? Please explain me more
I go to the dr on the last day of my 9th week wil they go ahead and test me or make me wait until next appt
Hey my test results came back positive for t21 but my ultrasound sound had 0 marks for Down’s syndrome, is anyone going through the same thing ?
Hi? How did it go? My scan shows absent nasal bone at my 12 week scan. Going for a NIPT tomorrow. Trying to be strong
What do you guys think of the sneak peek test how much fetal dna is in a mothers blood at only 6 weeks
What’s the difference between horizon and panorama genetic testing vs California state’s genetic testing? I am confused on which one to take.
Can you please tell if cell free dna testing can determine whether your baby has sickle cell disorder?
What is the difference between Myriad Prequel screen and the Integrated Test? I received pamphlets for these 2 tests but they seem to test for the same things so I’m not sure what the differences are.
Myriad Prequel screen is a "brand name" for cell-free fetal DNA that we talk about at 10:05. You are right--the tests both are testing to see what your risk is that your baby has a chromosomal abnormalities. Cell-free fetal DNA is more accurate, but sometimes insurance doesn't cover it and it is very expensive.
What is Hyperinsulinemic Hypoglycemia?
You can find out the gender in the genetic testing appointment
Hello doctors. What about twins ? Is the NIP test more accurate even though everything came out low risk? Verses quad screen
Sorry on my daughters account we had high Michal translucency but our blood test came back negative for everything. After the ultrasounds went good until week 24 the doc came in and said single blood vessel in umbilical cord and a small nose bone so they think downs. Baby is very none photogenic and they got a quick side profile picture, what has me confused is fetus had prominent paw bone in other ultra sounds. So confusing and heart wrenching.
Could you share the citation for the chromosomal abnormalities table you showed at around 5:30 in the video?
Also when it comes to the sex chromosomal abnormalities are there others that are simply less common? I know there are many many disorders beyond those listed, so my question are those included or it is just looking at the 5 listed?
[Academic curiosity]
According to the video, 1 in 150 live births have a genetic abnormality. So, 1 in 150 in the population in USA have a genetic abnormality assuming the chance has not changed much in the last 100 years.
Seems very high unless most of the abnormalities do not show a major effect.
True! Sex chromosome aneuploidies don't, generally speaking, have a huge effect on somebody carrying them. People with Turner's or Klinefelter's are typically diagnosed during childhood, but you often wouldn't necessarily notice something "wrong" with that person. 47XXX and 47XYY are not diagnosed at all in a majority of cases, but, of course, somebody has at some point tested a larger population. Now, that's why you can't/ should not mix these conditions together with T13, T18, T21, which do have huge effects... Oh, and, yes, the chances have indeed changed a lot in the last 100 years, abortion rates for Down's are 90 percent plus. And: children with T13 or T 18 typically die very early on, which is another factor.
Amazing video. Thank you
I’m so confused on genetic testing , fragil x and nipt ? Are they all the same ? My genetic testing came back low risk but I’m wondering if I need to ask to do a fragil x and nipt test too ?
Can genetic testing detect multiples? I had an ultrasound and it showed 1, however my genetic screening shows three fetuses!
I did a pregnancy test and it was positive and I went to see doctor and he give me a prescription prenat and now I have an OB appointment and I don’t know what exactly is for. Are they gonna do the ultrasound or there is anything else please explain to me more what to expect in that appointment
My nipt test say consistent with a female fetus.in the paper they say Y chromosomes accuracy > 99.9%. can someone explain what that means.
Is Cell free DNA test the same as what they call NIPT?
Yes
Are there any risks to mom for receiving these genetic screening/test
My question as well,hope someone gets to see this ..
I love the into ... so cute !!
My nt value is 4 mm by one doctor one doctor said 2.2 cord around neck and mild trivial intermittent tr what is the risk .. I am waiting for my nipt result
Hi, i am getting tested but i am not pregnant yet, i wanted to know if i had any risks to transmit anything to my baby, will the results be good ?
There is preconception genetic testing that can be incredibly helpful in knowing if you and your partner are carriers for a rare disease. Depending on how a particular gene expresses itself, if you and your partner both have a particular gene (or even if just one of you has it) there’s a chance you could pass it on to a future baby.
We did this testing too. There are actually options for parents who have certain gene mutations or genetic disorders to screen their embryos to keep from having children with the same mutations/disorders.
@@TheDoctorsBjorkman thank you so much, it actually came back good, thanks 🥰 love your channel
Is it common for people to get preconception testing? Would the first trimester testing give you more comprehensive results?
@@TheDoctorsBjorkman may I know the name of that preconception genetic testing
What NIPT would you recommend for obese women as I know the fetal fraction might be lower in these patients. Your response would be greatly appreciated
You are correct. I actually did a quick lit search to see if one company is better than another, and none of the 13 commercial NIPT providers provided specific recommendations. None of them report their no-call rates for obese patients either, so it is hard to recommend one over the other. I think the best bet is to make sure not to draw it early (sometime after 10-11 weeks) and to discuss with your provider what you next steps would be if you got a no-call result. Would you want to have an amniocentesis done to confirm, would it cause you a lot of anxiety if you didn't get a conclusive result? Just some things to think about. Talking through the other options--first trimester screening with a nuchal, integrated screening, etc--with your doc is a good idea too.
Thank you so much for this detailed response. It appreciate it more than you can imagine. One follow up question that would really help if you can let me know your thoughts on. I read that the brand Verifi by illumina might a brand that has a very low no call rate: they say “99% of people get results” but I don’t ever hear anyone talking about that brand. Is it even still commercially used and do you have any feedback on that brand ? Thank you
Hello my baby boy was born last year and at birth he was diagnosed with t21. I’m currently pregnant again and did NIPT twice and it came back negative both x. I’m just wondering if I should rely on the NIPT n not do Amnio. I’m a little scare of amnio but I don’t know.
Please I need help, where can new couple to be do genotype test in UAE(Dubai) ??
Maybe try checking with your doctor or ob/gyn?!
@@TheDoctorsBjorkman
Okay, but I don’t have personal doctor for now, I’ll try other alternatives, thanks.
Which is the best test to do? Me and my husband we both are carriers of Beta thalassemia, and I'm 4 weeks pregnant.
Any suggestions please 🙏
NIPT is the general genetic testing done in pregnancy.
@@ngs5554 thank you so much 💓
Thank you so much for the video, Doctors!
I have a question; Can something happen to chromosomal composition between week 10 and 15?
I tested low risk on NIPT 1:10,000 *fetal fraction 7.1% at 10 weeks . However, quad test showed high risk Trisomy 21 (1:118) and Trisomy 18 (1:68). 20 week’s anatomy scan is normal. NT was never done.
I just want to know if something could go wrong during pregnancy between week 10 and 15? When do the chromosomes stop the arrangement?
*Im not trying to get a medical advice. Just trying to collect more info. Thank you very much!
NIPT is a screening test, no a diagnostic. So, I would trust in your ultrasound 20 wks
Did u done amino or cvs
I will advice u do 3D scan by fetAl medicine expert and keep I on growth, restrictions on third trimester
What is a unity test today I had my 12 week check up and they told me I was going to get labs done and I was going to get unity lab work done I asked him what that was and they said it’s for genetics I’m still confused 😐
What does it mean to have the specimen sent to a state test for testing ? really concern please answer
Taking a sample with a long needle in the placenta?? Does that harm the baby??
As professionals with a platform and such a large following as yours, I'm disappointed that you didn't spend much if any time stressing the point that there is no right or wrong choice regarding continuing or not continuing a pregnancy, upon diagnosis of a serious chromosomal abnormality. Thousands of people make the difficult choice not to continue pregnancies due to these diagnoses every day, and it's disappointing that you stated that it wouldn't change the outcome for you, and left it at that.
In reality there is a right or wrong choice regarding continuing or not a pregnancy. If parents decide to interrupt the pregnancy particularly if the life of the mother is not in danger, then one could argue that they’re taking the life of their child, so it’s not only wrong, but horrific.
Nobody should ever judge the parents who decide to do so though, as it’s a very difficult life circumstance and the parents should make their own decisions. But let’s be adults and not lie to ourselves that there is not right or wrong here …
@@katiaray3516 "Nobody should ever judge the parents who decide to do so though" - except the hilarious thing is that your comment could not be more judgmental if it tried. It's also a very puerile way of looking at things. Let's be adults and realise that there is no end to the nuance in these situations, all kinds of women and men affected by these things, all kinds of situations, diagnoses and life circumstances. There's actually no right or wrong with abortion, just what's right for the couple having to face and live with the situation and it's really no-one else's business.
Love you guys!
are all these tests covered by insurance???
WHY IS THERE A LOUD THUNDER STORM NOISE!?! THAT WAS A TERRIBLE SHOCK THROUGH MY HEADPHONES
Can you please tell me what Abnormal Chromosomal And Genetic Finding On Antenatal Screening Of Mother means? Please
what was your outcome. I did amniocentesis and my report says abnormal chromosomes detected in baby but not any syndrome.
If I chose not to do the cell free DNA test would the 20 week ultrasound tell if the baby has any chromosomal abnormalities?
There are some classic findings on the 20 week ultrasound that can be consistent with certain chromosomal abnormalities, but it is not diagnostic. In other words, the ultrasound is really good at finding structural defects, but could miss some genetic abnormalities if they weren't associated with big visible changes.
I am 20 week 4 days pregnant. Can i go to cell free DNA test now at this stage? Can i find out any abnormalities and can i go further treatment? If i found any abnormalities? What you suggest at this stage?
I have had 3 miscarriages...and I am now pregnant for the fourth time..I had each miscarriages around 15 weeks...all of them is for the same guy...what do u suggest? Am very worried...please reply.
Hii... Keep eye on growth in last trimester.... Growth and weight should be in proportion....
Can this test helps an As parents to dictate if the embryo is a sickler or not
Yes
Hi, I had the cell free DNA testing or panorama test around week 12 and it came back negative or low risk for all genetic defects. Now I’m in week 20 and my midwife ordered me another test the mss to detect spina bifida ( she let me know ahead of time that this test also includes testing for Down syndrome, which comes back with a lot of false positives. Mine did come back as high tick for Down syndrome but I didn’t think much of it because she warned me ahead of time) one week later after getting the results, I got a call that they need to speak with me. Now I’m very worried… would you be able to tell me what you think about this…
How are you doing ? How was the result ?
Thank you for this very informative video!
My OB is so booked out she does not even see her patients until 15 weeks GST. There are only 3 providers in the practice, and none offered these tests due to lack of resources.
My NIPT result came 1/117 chance for Down syndrome and I should do amniocentesis! Please let me know how much this test is correct? Do I have any hope?
what's was ur report?
Any update please
Hope it worked out for you. 1/117 seems like pretty good chance for not having it 🙏
Hello, I recently got my results from my Alpha Fetoprotein Pregnancy test and it came out positive for Down syndrome. When I was early on I had NIPS genetic test done and it came out negative on Down syndrome. Which test is more accurate?
Update us pls
Nipt
I was told my baby tested positive but with less than one percent chance of Down syndrome and I’m scheduled for more tests. I’m scared.
Does this mean the NIPT during week 10 is the only screening test I’ll have, assuming results come back normal? No further screening tests?
It’s at your discretion if you want to continue with further testing (CVS, amniocentesis) to get a more definitive answer.
@@kaylaquebec7077 😊
My obgyn hasn’t done a single test on me not even urinalysis or bloodwork Nd I’m 13 weeks now Is this normal?
They should of started with any type of testing on the first day of your appointment..Maybe you should ask I got ultrasound, blood test, urine check at 7 weeks my first pregnancy appointment
Nipt test redrawn no test result 😭😭😭😭😭
hlo dr...i had done my anomaly scan on 20 weeks of gestation...my baby NT IS 5.1mm and nasal bone length is 6mm.it is normal?after that i had dine NIPT on 21 weeks and result is low risk...plz tell me dr it is normal for my growing baby....iam soo worried 😢
How is beby
@@गुड्डीच्यागमतीजमती i had lost my baby due to premature caeserian section 😭😭😭
@@spandhanjourney8454 so sorry dear
Invitro blastocyst stage testing can be done to allow parents to not only know at that stage about many genetic miscodes, but also gender. Parents can select which gender blastocyst is implanted. Designer babies with specific eye and hair color are probably already being born to parents who can afford the high cost of a designer baby.
❤️
Im a Training Teacher for Children With Mentally challenging,
Autism, attention deficits hyper activity
Me and ma boyfriend are 25&32 yrs old, non of us have heard any history of down syndrome in the family history. But we are mixed mixed match, African-European. I got one question I really need help with, Is there high chance for the mixed couple to have a baby with complications?? I'm 7 weeks pregnant now, so stressed up about the test issues, I can't really stop thinking about what the outcome will be,. I will really appreciate if I get any help on this 😊
Fetal sex meaning?
It’s says consist with a female
That mean I’m having a girl??????
You guys are so cute ☺️)))
Aw thank you!
Can the results for fibrosis mutation 97 test show what races are in the baby's DNA?
I just want to find out the gender early 🤷♀️ I guess we will wait til 20w
More like "how to scare parents for the whole pregnancy" testing
Hhhm no. I’m a parent and I am NOT an ableist. Anything the child has is what it is.
@@Abcdefghijajajaja what a dumb reply...
Can you touch on false positives?