Question-------------------------
Thanks once again for your time I do appreciate! I did want to let you know that I did take the alphafetoprotein test the same day that I seen my OB. I will find out my results on April 1st. I did want to ask if I do go in and go ahead w/ the Amnio and the results come back that the baby isn't a Downs baby...is there any concerns about this nuchal fold being a issue then-is it like extra skin that will grow w/ the baby?
Thank you! Kass
Followup To
Question -
Hello I am 32 yrs old, I've had 5 vaginal births-3 of those births the children were adopted, I am 5months pregnant now. I have a question on something that I am having trouble finding out more information on...On Thursday afternoon I went in for my appt to see the OB she reviewed my Ultra Sound from Tuesday and had found that there was a "thickening" on the back of the head down to the neck, and her kidneys have some swelling as well. With this thickening she said that this could be a sign of Down Syndrome so she scheduled me for another appt first thing Friday morning w/ a specialist that had this 4D ultra sound. He is more experienced in finding these type of problems and the ultra sound will pick up more detail...he didn't see any other signs that would indicate Down Syndrome such as a hole in the heart, the top pinky bone missing, and a large gap between the big toe and the second toe. He did suggest that we could do an Amnio but he didn't feel comfortable doing so since I am only 21 weeks and could be taking a chance of losing the baby. I decided against it. However he did order that I have another ultra sound done at 30 weeks and we may have to do Amnio at that point-depends on what they see at that time. Baby is larger than what babies should be at this stage-they normally weigh between 12-14oz.-she weighs 17oz. I've been told from the beginning that she's going to be a big baby w/ my history of having big babies and then there is the husband who is a moose w/ a moosey family history-they're all over 6ft and big boned on his dad's side... :D I am thinking that maybe they are all panicking too soon-I could be wrong. I just want to know what else this "thickening" could be so that I could learn more about it and prepare myself for it. Any advice or guidance of where else to go would be very much appreciated. Thanks for your time! Kass~
Answer -
They saw a "Nuchal fold transluscency" which is a "soft sign" of Down's syndrome seen on sonogram. It is not a very accurate sign, but when we see it we usually will suggest that the patient have an amniocentesis to definitively determine if the baby has Trisomy-21 (Down's) or not. Amniocentesis is definitely done between 18-20 weeks of pregnancy and should be done now so that you can make some choices. If it is a baby with Down's syndrome and you want to terminate the pregnancy, you are not allowed (by law) to terminate after 24 weeks gestation. Taking another sonogram at 30 weeks will not necessarily help you in the diagnosis. Another test you can do is an alphafetoprotein test,which is a blood test. If the test is low, it is a sign of Down's syndrome, as well. There is a 1:400 chance of miscarriage in amniocentesis, but that is the same at this time as it is later on in pregnancy. There would not be any reason to do an amniocentesis at 30 weeks. I would suggest taking action now to see what is going on. You can also repeat the sonogram now, as well. Good Luck to you.
AnswerIf the amniocentesis or the alphafetoprotein is normal, you can forget about the nuchal fold shown on the sonogram. It will, then, have no significance. It is not an extra fold of skin, but merely a transluscency (able to see through it) seen only on ultrasound.
