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ObGyn Explains: Prenatal Genetic Testing

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The Doctors Bjorkman

The Doctors Bjorkman

Күн бұрын

This pregnancy guide will cover everything you need to know about prenatal genetic screening for aneuploidy.
In this Week 9 pregnancy update, we are talking all the options available for prenatal genetic testing--from the first trimester screen, to the quad screen, to cell-free fetal DNA. We also review the diagnostic testing options of chorionic villus sampling and amniocentesis. We cover risks of a genetic abnormality like Down Syndrome, or Trisomy 21, as well as other aneuploidies and microdeletions. We cover what to expect and how to be best prepared to talk with your doctor or midwife about your prenatal care in the first trimester. In this week by week pregnancy guide, we also review baby's development during the 9th week of pregnancy!
**Weekly pregnancy update on Wednesdays! We will be covering everything from TTC, infertility, prenatal care, labor and delivery, best baby gear, your baby's week by week development, postpartum concerns, and other pregnancy tips and tricks!
Affiliate links to all products mentioned in videos here: www.amazon.com...
Week 8 Video -- The First Prenatal Visit: • What To Expect at Your...
Intro Music: A WAY FOR ME - Nicolai Heidlas by Chem Ocampo

Пікірлер: 232
@tifflovemyfamily2160
@tifflovemyfamily2160 2 жыл бұрын
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 ❤
@oliviapayne8658
@oliviapayne8658 2 жыл бұрын
Praying for you & your family! Your faith in God is astounding! 🤍
@tifflovemyfamily2160
@tifflovemyfamily2160 2 жыл бұрын
@@oliviapayne8658 Thanks so much for your kind words 💌..I'm now 26wks a baby is doing great 😊
@preetikapil5141
@preetikapil5141 2 жыл бұрын
We will pray for your and your baby’s health from India. Good luck!
@tifflovemyfamily2160
@tifflovemyfamily2160 2 жыл бұрын
@@preetikapil5141 bless your heart ❤ I'm now 28wks 😊 Thank you 💌
@shahidachaudhary5036
@shahidachaudhary5036 2 жыл бұрын
Sorry for the loss of your baby on the last pregnancy !! And praying this pregnancy results in a healthy baby and mommy!!! 🙏🏼
@sharayalee3376
@sharayalee3376 2 жыл бұрын
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
@oliverwitcher4649
@oliverwitcher4649 3 жыл бұрын
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
@alexandrawilliams8533
@alexandrawilliams8533 2 жыл бұрын
I felt this so much 😪 i can definitely relate
@teresameece367
@teresameece367 Жыл бұрын
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 😢
@Francescaantoinette
@Francescaantoinette Жыл бұрын
🥹🙏
@SmallGirlBigWorld_
@SmallGirlBigWorld_ 3 ай бұрын
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. 😭❤️
@antoinettemccarthy1280
@antoinettemccarthy1280 5 ай бұрын
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 💪
@sophiareyna4087
@sophiareyna4087 2 жыл бұрын
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 💜🙏
@musicbus84
@musicbus84 3 жыл бұрын
My early screening came up with "Turner's " syndrome. I then did amnio and baby was negative! for Turner's.
@donniedarko448
@donniedarko448 2 жыл бұрын
That’s scary. People are making decisions to terminate based on screening tests.
@sofiabravo1994
@sofiabravo1994 2 жыл бұрын
@@donniedarko448 that’s why I didn’t do them!
@nuelaanye1919
@nuelaanye1919 6 ай бұрын
Your video is so informative, and I love how you break it down for a better understanding. Thanks doctors🙏❤
@redcherries93x2
@redcherries93x2 Жыл бұрын
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!
@annikatribby5717
@annikatribby5717 3 жыл бұрын
Fantastic information. This helps with what questions to bring up with my OB GYN this coming week. Thank you
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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!!
@melaniehartwick4724
@melaniehartwick4724 3 жыл бұрын
Y’all are so easy to watch! Still obsessed with the cartoon.
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
Aw thank you! Glad you like it!!
@natashabenjamin4222
@natashabenjamin4222 3 жыл бұрын
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.
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@danny55430
@danny55430 2 жыл бұрын
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.
@mcamposmalvae
@mcamposmalvae 3 жыл бұрын
I am 10 weeks today thank you for all the information
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
Sofia-- You are so welcome! Glad it was helpful. Let us know if you have any more questions. Hoping you have a smooth pregnancy.
@sjulliette
@sjulliette 2 жыл бұрын
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
@shawnyshawnz928 2 жыл бұрын
Heyyyy? Do you have identical twins ? I have so many questions. How much was the test also .
@sjulliette
@sjulliette 2 жыл бұрын
@@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.
@shawnyshawnz928
@shawnyshawnz928 2 жыл бұрын
@@sjulliette right ! I’m having identical twins . I’m trying not to worry but when I did the NIP everything was low risk .
@sjulliette
@sjulliette 2 жыл бұрын
Natera test was something like $350 oop, btw. Way cheaper than what my insurance paid Labcorp.
@Steph-yi4qc
@Steph-yi4qc 9 ай бұрын
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
@marielagarza7118
@marielagarza7118 Жыл бұрын
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!
@emmeau
@emmeau Жыл бұрын
Were the results accurate ?
@marielagarza7118
@marielagarza7118 Жыл бұрын
@@emmeau yes, they were!
@jeer7996
@jeer7996 9 ай бұрын
Hi Marie, whether the results are accurate
@marielagarza7118
@marielagarza7118 9 ай бұрын
@jeer7996 yes, they were accurate
@blueprincipessa
@blueprincipessa 3 жыл бұрын
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.
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
Glad you like them and thanks for saying hello!
@OneTrueKing23
@OneTrueKing23 4 ай бұрын
That intro was phenomenal 😄😄
@sarahj87
@sarahj87 2 жыл бұрын
Thank you for this explanation!
@lovelybabbii756
@lovelybabbii756 2 ай бұрын
I'm taking the test in a few weeks
@sarahkelly2293
@sarahkelly2293 3 жыл бұрын
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?
@immastarrrr15
@immastarrrr15 3 жыл бұрын
Yes there’s preconception screening
@sarahkelly2293
@sarahkelly2293 3 жыл бұрын
@@immastarrrr15 thank you very much.
@imthisislizlee
@imthisislizlee 2 жыл бұрын
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?
@MsSavvyChic
@MsSavvyChic Жыл бұрын
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.
@sarasudlow6136
@sarasudlow6136 2 жыл бұрын
Are these screenings and tests covered by insurance? How much are they without insurance?
@petrabrook1998
@petrabrook1998 3 жыл бұрын
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
@bellaevans4488
@bellaevans4488 2 жыл бұрын
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
@petrabrook1998
@petrabrook1998 2 жыл бұрын
@@bellaevans4488 oh really didn’t know that! Done now anyway for peace of mind :)
@barribrown263
@barribrown263 2 жыл бұрын
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.
@thelovedoula
@thelovedoula 3 ай бұрын
Really awesome to hear about the blood test option as ultrasounds are harmful
@adriyolanda6702
@adriyolanda6702 3 жыл бұрын
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.
@catinabox3048
@catinabox3048 3 жыл бұрын
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.
@adriyolanda6702
@adriyolanda6702 3 жыл бұрын
@@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.
@romulusthemainecoon3047
@romulusthemainecoon3047 3 жыл бұрын
@@adriyolanda6702 Good luck!! I am sending positive thoughts your way!
@kbm124
@kbm124 3 жыл бұрын
@@adriyolanda6702 how is everything with your pregnancy going ?
@adriyolanda6702
@adriyolanda6702 3 жыл бұрын
@@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!😇
@winniex1387
@winniex1387 3 жыл бұрын
Very timely information thank you so much!
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
You are so welcome!
@denicelopez9467
@denicelopez9467 2 жыл бұрын
Was the sneak peek accurate?
@kristenosullivan5975
@kristenosullivan5975 3 жыл бұрын
What is your opinion on genetic testing with an IVF pregnancy where the embryo tested euploid?
@musica09chika
@musica09chika 8 ай бұрын
We did a sneak peak, and it was correct. Did yours end up being correct?
@Adri22221
@Adri22221 3 жыл бұрын
Is there a reason why doctors prefer to have the NIPT done until week 16?
@Poultrychick
@Poultrychick 5 ай бұрын
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
@carmen100983
@carmen100983 2 жыл бұрын
Hello what is the name of the test again
@Akobby155
@Akobby155 3 жыл бұрын
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 ?
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@Akobby155
@Akobby155 3 жыл бұрын
@@TheDoctorsBjorkman thank you very much !!!!
@christinenzamuranga9366
@christinenzamuranga9366 3 жыл бұрын
@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.
@huesophie299
@huesophie299 2 жыл бұрын
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.
@danielaesquivel8148
@danielaesquivel8148 Жыл бұрын
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 ?
@Foibeh
@Foibeh 3 ай бұрын
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
@russellmajerus
@russellmajerus 4 ай бұрын
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.
@arlenistorres2151
@arlenistorres2151 2 жыл бұрын
Hi Doctors, can you discuss receiving a non-conclusive result on a cell free blood exam? Specifically for twins.
@Ramses060784
@Ramses060784 Жыл бұрын
Talk to a genetic counselor, hope your pregnancy ended well
@daniellecoen8391
@daniellecoen8391 3 жыл бұрын
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
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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!
@4mwneha
@4mwneha 3 жыл бұрын
What’s the difference between horizon and panorama genetic testing vs California state’s genetic testing? I am confused on which one to take.
@haleylanier
@haleylanier Жыл бұрын
Can genetic testing detect multiples? I had an ultrasound and it showed 1, however my genetic screening shows three fetuses!
@elusive_cumulus7152
@elusive_cumulus7152 2 жыл бұрын
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.
@katiaray3516
@katiaray3516 8 ай бұрын
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 …
@elusive_cumulus7152
@elusive_cumulus7152 8 ай бұрын
​@@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.
@foodiesshorts6359
@foodiesshorts6359 Жыл бұрын
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
@cathynguyen2147
@cathynguyen2147 Жыл бұрын
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 .
@honorinaestar2528
@honorinaestar2528 Жыл бұрын
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
@amblisky
@amblisky 3 жыл бұрын
How long does it take to get the results of these tests? Same day as the doctors appointment or a few days later?
@anniechantale5869
@anniechantale5869 2 жыл бұрын
Usually for the genetic test is 10 to 15 days. At least that's what I was told here in Canada
@lindakuddy5451
@lindakuddy5451 3 жыл бұрын
Can you please tell if cell free dna testing can determine whether your baby has sickle cell disorder?
@lovelyjess1605
@lovelyjess1605 2 жыл бұрын
What week does my obgyn does all the test
@chellyduprey7926
@chellyduprey7926 2 жыл бұрын
What do you guys think of the sneak peek test how much fetal dna is in a mothers blood at only 6 weeks
@shawnyshawnz928
@shawnyshawnz928 2 жыл бұрын
Hello doctors. What about twins ? Is the NIP test more accurate even though everything came out low risk? Verses quad screen
@apt306yo
@apt306yo Жыл бұрын
Amazing video. Thank you
@maybug88
@maybug88 3 жыл бұрын
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.
@harrykumar3597
@harrykumar3597 3 жыл бұрын
On the reports, did it say FETAL SEX consistent with boy or , just clearly tell you what you are having, Thanks
@tatiannamiller9683
@tatiannamiller9683 3 жыл бұрын
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
@consentacademy
@consentacademy Жыл бұрын
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?
@mayelarios1299
@mayelarios1299 11 ай бұрын
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 ?
@melissavieira3280
@melissavieira3280 3 жыл бұрын
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.
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@GenerationYoga
@GenerationYoga 2 жыл бұрын
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...🙏
@pc3055
@pc3055 2 жыл бұрын
Any update? Me and my wife are in the same situation would love reassurance
@GenerationYoga
@GenerationYoga 2 жыл бұрын
@@pc3055 our results came back low risk 👍🏻
@pc3055
@pc3055 2 жыл бұрын
@@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
@GenerationYoga
@GenerationYoga 2 жыл бұрын
@@pc3055 thank you. Keeping you in my prayers.
@shooriasg9827
@shooriasg9827 Жыл бұрын
Which Brand of NIPT test did you do?
@foreverryuri
@foreverryuri 3 жыл бұрын
thank you so much! such great info!!
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
You are so welcome! Thanks for being here!!
@carlalong4075
@carlalong4075 2 жыл бұрын
I love the into ... so cute !!
@honorinaestar2528
@honorinaestar2528 Жыл бұрын
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
@luxbayb9211
@luxbayb9211 Жыл бұрын
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.
@ceciliam8697
@ceciliam8697 2 жыл бұрын
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 😐
@llopez6017
@llopez6017 Жыл бұрын
Taking a sample with a long needle in the placenta?? Does that harm the baby??
@AdisaKola
@AdisaKola 3 жыл бұрын
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 🙏
@ngs5554
@ngs5554 3 жыл бұрын
NIPT is the general genetic testing done in pregnancy.
@AdisaKola
@AdisaKola 3 жыл бұрын
@@ngs5554 thank you so much 💓
@genesiscastaneda
@genesiscastaneda 2 жыл бұрын
What does it mean to have the specimen sent to a state test for testing ? really concern please answer
@olgab19
@olgab19 Жыл бұрын
are all these tests covered by insurance???
@MrElie2
@MrElie2 2 жыл бұрын
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.
@jackierod5297
@jackierod5297 Жыл бұрын
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?
@BATOOLESK
@BATOOLESK Жыл бұрын
Update us pls
@foodiesshorts6359
@foodiesshorts6359 Жыл бұрын
Nipt
@dccreations1361
@dccreations1361 10 ай бұрын
WHY IS THERE A LOUD THUNDER STORM NOISE!?! THAT WAS A TERRIBLE SHOCK THROUGH MY HEADPHONES
@alonaabd1152
@alonaabd1152 2 жыл бұрын
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!
@angelicacontreras8230
@angelicacontreras8230 2 жыл бұрын
NIPT is a screening test, no a diagnostic. So, I would trust in your ultrasound 20 wks
@user-pr2uf4ck9e
@user-pr2uf4ck9e 2 жыл бұрын
Did u done amino or cvs
@user-pr2uf4ck9e
@user-pr2uf4ck9e 2 жыл бұрын
I will advice u do 3D scan by fetAl medicine expert and keep I on growth, restrictions on third trimester
@hello7198
@hello7198 3 жыл бұрын
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
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@hello7198
@hello7198 3 жыл бұрын
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
@candyxoxo506
@candyxoxo506 2 жыл бұрын
You can find out the gender in the genetic testing appointment
@gracet9601
@gracet9601 3 жыл бұрын
Is Cell free DNA test the same as what they call NIPT?
@hailamaafi4799
@hailamaafi4799 2 жыл бұрын
Yes
@everlastingblessing5058
@everlastingblessing5058 3 жыл бұрын
Please I need help, where can new couple to be do genotype test in UAE(Dubai) ??
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
Maybe try checking with your doctor or ob/gyn?!
@everlastingblessing5058
@everlastingblessing5058 3 жыл бұрын
@@TheDoctorsBjorkman Okay, but I don’t have personal doctor for now, I’ll try other alternatives, thanks.
@msnewby1000
@msnewby1000 2 жыл бұрын
Can you please tell me what Abnormal Chromosomal And Genetic Finding On Antenatal Screening Of Mother means? Please
@alwayshopeful7587
@alwayshopeful7587 Жыл бұрын
what was your outcome. I did amniocentesis and my report says abnormal chromosomes detected in baby but not any syndrome.
@blertamahmuti7773
@blertamahmuti7773 2 жыл бұрын
Love you guys!
@ansarmuhammad8839
@ansarmuhammad8839 2 жыл бұрын
Are there any risks to mom for receiving these genetic screening/test
@simpleaffordablediy
@simpleaffordablediy 3 ай бұрын
My question as well,hope someone gets to see this ..
@breannag5082
@breannag5082 Жыл бұрын
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.
@allthewayshorts3277
@allthewayshorts3277 3 жыл бұрын
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 ?
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@allthewayshorts3277
@allthewayshorts3277 3 жыл бұрын
@@TheDoctorsBjorkman thank you so much, it actually came back good, thanks 🥰 love your channel
@carolynkucera7170
@carolynkucera7170 3 жыл бұрын
Is it common for people to get preconception testing? Would the first trimester testing give you more comprehensive results?
@sprasannalakshmi7148
@sprasannalakshmi7148 Жыл бұрын
@@TheDoctorsBjorkman may I know the name of that preconception genetic testing
@stacybrown6464
@stacybrown6464 2 жыл бұрын
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.
@user-pr2uf4ck9e
@user-pr2uf4ck9e 2 жыл бұрын
Hii... Keep eye on growth in last trimester.... Growth and weight should be in proportion....
@addella1
@addella1 2 ай бұрын
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…
@funmilolaajayi8196
@funmilolaajayi8196 Ай бұрын
How are you doing ? How was the result ?
@vivianmmachi9920
@vivianmmachi9920 2 жыл бұрын
Can this test helps an As parents to dictate if the embryo is a sickler or not
@rammysaeed869
@rammysaeed869 2 жыл бұрын
Yes
@AdityaDodda
@AdityaDodda 2 жыл бұрын
[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.
@annelien3432
@annelien3432 2 жыл бұрын
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.
@Lemonbr316
@Lemonbr316 3 жыл бұрын
If I chose not to do the cell free DNA test would the 20 week ultrasound tell if the baby has any chromosomal abnormalities?
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
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.
@samreenanwar5917
@samreenanwar5917 Жыл бұрын
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?
@hopefuljina
@hopefuljina 2 жыл бұрын
Thank you for this very informative video!
@leapadaoan2263
@leapadaoan2263 2 жыл бұрын
Nipt test redrawn no test result 😭😭😭😭😭
@pmwyy
@pmwyy 2 жыл бұрын
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?
@kaylaquebec7077
@kaylaquebec7077 2 жыл бұрын
It’s at your discretion if you want to continue with further testing (CVS, amniocentesis) to get a more definitive answer.
@mandalinakozicki9797
@mandalinakozicki9797 Жыл бұрын
@@kaylaquebec7077 😊
@hailamaafi4799
@hailamaafi4799 2 жыл бұрын
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?
@sameerdibyangtrust9054
@sameerdibyangtrust9054 2 жыл бұрын
what's was ur report?
@watiforever8963
@watiforever8963 2 жыл бұрын
Any update please
@whimsy-chan1188
@whimsy-chan1188 11 ай бұрын
Hope it worked out for you. 1/117 seems like pretty good chance for not having it 🙏
@raemarlow57
@raemarlow57 2 жыл бұрын
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.
@jenaeliberty
@jenaeliberty 2 жыл бұрын
Can you touch on false positives?
@bree3063
@bree3063 3 жыл бұрын
My obgyn hasn’t done a single test on me not even urinalysis or bloodwork Nd I’m 13 weeks now Is this normal?
@Miss_Alena.
@Miss_Alena. 3 жыл бұрын
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
@gracekajabika6888
@gracekajabika6888 3 жыл бұрын
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 😊
@jliv1988
@jliv1988 2 жыл бұрын
Can the results for fibrosis mutation 97 test show what races are in the baby's DNA?
@-myal-8691
@-myal-8691 2 жыл бұрын
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.
@rahuldahiya4934
@rahuldahiya4934 2 жыл бұрын
Sir please tell me about the test in which how I recognised the sex of foetus in mother's womb
@spandhanjourney8454
@spandhanjourney8454 3 жыл бұрын
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 😢
@user-pr2uf4ck9e
@user-pr2uf4ck9e 2 жыл бұрын
How is beby
@spandhanjourney8454
@spandhanjourney8454 2 жыл бұрын
@@user-pr2uf4ck9e i had lost my baby due to premature caeserian section 😭😭😭
@user-pr2uf4ck9e
@user-pr2uf4ck9e 2 жыл бұрын
@@spandhanjourney8454 so sorry dear
@anl9800
@anl9800 3 жыл бұрын
You guys are so cute ☺️)))
@TheDoctorsBjorkman
@TheDoctorsBjorkman 3 жыл бұрын
Aw thank you!
@poornimabodkekolwalkar4716
@poornimabodkekolwalkar4716 Жыл бұрын
❤️
@katmmz720
@katmmz720 3 жыл бұрын
Fetal sex meaning? It’s says consist with a female That mean I’m having a girl??????
@pianorelaxingmusics
@pianorelaxingmusics 2 жыл бұрын
More like "how to scare parents for the whole pregnancy" testing
@Abcdefghijajajaja
@Abcdefghijajajaja 2 жыл бұрын
Hhhm no. I’m a parent and I am NOT an ableist. Anything the child has is what it is.
@pianorelaxingmusics
@pianorelaxingmusics 2 жыл бұрын
@@Abcdefghijajajaja what a dumb reply...
@stacydallas3939
@stacydallas3939 3 жыл бұрын
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