Trimester: Second Trimester She has offered the amnio just to be 100% sure but said to wait and see how 16 week ultrasound goes. Cheshire Then at a growth scan at 28 weeks he was suddenly measuring below the 5th percentile. Meet other parents of October 2017 babies and share the joys and challenges as your children grow. junebug121 - i hope your little one is perfectly healthy and that you aren't too stressed. Really friendly, efficient service. After a detailed scan the baby is showing signs of Downs Syndrome and the doctor found a heart defect so will be seen by a cardioligist. The amniocentesis results came back today and confirmed what we already knew, positive for the 22q microdeletion. OB is fairly certain there is nothing wrong because everything else on my ultrasound looked perfect. I don't want to add unnecessary risk. To use this feature subscribe to Mumsnet Premium - get first access to new features see fewer ads, and support Mumsnet. I have another scan at 16 weeks to monitor. My son has heart issues not requiring surgery, but I know several other children who have had heart surgery when tiny. They think an NT that high can’t be explained as an anomaly on its own. Thanks. Amnio comes with high risks to the baby... if there are no indications for amnio besides age than don’t risk the baby! I know you're right. You haven't half had a rollercoaster through out your pregnancy but i am sure it will be all worth it in a few short weeks. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. You don’t have to have any of these tests, even if your Nuchal Translucency Scan suggests a chromosomal abnormality. Obviously I suggest amnio, microarray and noonans panel for you to be sure but hoping all is well. Please contact the moderators of this subreddit if you have any questions or concerns. Amnio in invasive and has risks of miscarriage. Sometimes NIPT gives a high chance result when the fetus does not actua… Very quick. Press question mark to learn the rest of the keyboard shortcuts. The genetic counselor I spoke to reassured me that they had seen NTs >7 with positive results. The doctors will have a treatment plan all ready to go. I’m waiting on the results of both. We all screw up in so many different ways, it's just part of parenting, but having a child with health issues is not screwing up. Trimester: Second Trimester Pregnancy is emotionally and physically demanding and there is always a chance something could go wrong. The websites of most private providers state that NIPT is ‘99% accurate’ or has ‘99% sensitivity’. Yesterday I had a 12 week NT ultrasound and unfortunately our little one was measuring out of range at 3.9. I guess I will have to wait and see what my results are and see how I feel. Did your doctor explain this when you got back your NIPT results? I haven't had a false negative, but I have had the experience of a positive NIPT followed by a negative amniocentesis for T18. She said if it had downs or other issues it would not open its hands, it would clench them. Assumed I'd do Amnio (I'm 40) but did the NIPT and was negative for DS and did the blood work with anatomy scan US (NT) and got a 1/297 chance (you are way way way better at 1/10000) and my doc said she would not do Amnio if she were me (I had 2 mc so was anxious to know this is healthy). Also speedy appointments also as I had phone in the morning and got an appointment by afternoon. Absolutely nobody else has even so much as suggested that though. My appointment was with Kate who was absolutely fantastic. Thank you so much. The results came really quickly. We received the results of our NIPT last Friday and everything came back negative. I wanted to share my story with all the other mamas out here who just received a call from their doctor/midwife/genetic counselor that they tested high risk for trisomy 21 via NIPT. Or do I need a definitive answer? No abnormalities found. I am waiting for my NIPT results and wonder the same. I am in the exact same situation. All three negative with my first and perfectly healthy baby. : Is anyone still considering or going to do amniocentesis after receiving low risk results from their NIPT test? This educational content is not medical or diagnostic advice. Sigh, at least you can move forward.... my thoughts are with you, it’s going to be rough for a while... New comments cannot be posted and votes cannot be cast. I don’t remember much of what happened after. This is absolutely nothing you have done so please do not beat yourself up about it.Again I can't offer any advice on your exact situation but my little one is very small and they don't know why. My mom always says to just say a prayer. I just hope i can offer them everything they need and the family will see past the ectra chromosone. By using our Services or clicking I agree, you agree to our use of cookies. I’m not sure why you would, if they come back low risk. 3.4 measurement. Thank you so very much for sharing. NT of 5.1 at 11 weeks and 4.4 at 12 weeks when I got my CVS done (yesterday). Invasive testing is definitely not for everyone. Doctors are super optimistic at this point that everything will be fine. Sorry to hear you had to endure that Primulas. They said the risk of a MC after is low... Hello everyone.I had my anatomy scan at 20+6 and everything is good, but they weren’t able to see the nasal bone. I am worried since Thursday. My sister has Downs and has no other physical issues. Please read top 2 pinned posts & automod message for information about the screen and your result. reviewed by our medical review board and team of experts. Thank you so much for your kind words. It’s comforting to know that most outcomes are positive. Doctor says it's much more accurate than the integrated IPS screening and after I got the results back I was relieved and decided to wait for the anatomy scan. Thank you! Learn more about, 6 Moms Share Their Real Prenatal Testing Stories, Amnio Decision - for those who have done it. A more helpful statistic is the positive predictive value. People with DS are more than 90% LESS likely to die of cancer than those without a bonus chromosome. We had been scared by our NHS dating scan and left feeling like there was something wrong. The doctor checked baby very carefully and measured an NT of around 1.9, and did not find any fluid in the abdomen. I’m scheduled for a CVS this Friday and have an ultrasound at 16 weeks as well. Last Menstrual Period: 15-12-2016. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Create an account or log in to participate. Also 27 years old, first pregnancy, also work in healthcare, currently 12 weeks along. As she was going through she told me literally everything she was measuring and why. NIPT is screening and not diagnostic. We had received possible worrying news from our NHS anomaly scan, without much information provided or confirmation. You are already a wonderful mum. Any advice for coping or getting my head around it all would be very much welcome!

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