Has anyone out there have an "ultra-sound" to detect genetic abnormalities?

Question

What is normal/abnormal?

Answer 1

I had one last week to test for Downs syndrome. It's done between 12 and 14 weeks when the baby is large enough to see any abnormalities. The ultrasound measures the amount of fluid on the back of the baby's neck. The more fluid, the more likely it is to have a baby with Downs. It's also done in conjunction with a blood test, just a few drops of blood after pricking your finger. The results take seven to ten days for your doctor to get, and while the test isn't 100% accurate, it's pretty good. While the risk of Downs increases due to the mother's age, younger women are offered this test as well (I'm 25). Also, this test is not required, it's completely optional, so insurance may not cover it.

Answer 2

Ultrasound is only useful in detecting major physical abnormalities that are visible in the formation of the fetus and by the time such abnormalities are apparent it is pretty late in the pregnancy.

To detect earlier genetic abnormalities normally amniocentesis is conducted to analyze the amniotic fluid surrounding the baby. Currently such prenatal DNA testing is used to determine sex of the child and probable conception time useful in establishing paternity. The test is not cheap about $870. It can also be used now to cheeck for down syndrome. At some point in the near future such a test should be able to scan for many more common defects as specific gentic markers are identified.

Answer 3

I was 37 during my second pregnancy and my OB had me do a level 2 ultrasound just as a precaution. I was actually voluntary on my part. They usually check for thickness at the back of the neck and length of long bones. They may also look to see if the babies toungue moves in a particular way. These are all to check for Down's. The neck will be thick, the long bones will be short and they move their togue in a different way. They will also check the spine for openings for spina biffida. A lot of OB's do this just as a percaution in women over 35 or in people with a family history of genetic abnormalities.

Answer 4

I had an amnio which detected that my baby had Down's Syndrome, so my OB had me get monthly ultrasounds to check for certain characteristics. I know with Down's Syndrome, they can check for certain characteristics with an ultrasound, such as thickness in the back of the neck and a short femur bone. I'm not sure about characteristics of other genetic abnormalities, but I think when they check with an ultrasound they are mainly looking for signs of Down's Syndrome. That is what I read anyway. Best wishes for a healthy baby!

Answer 5

at your 20 week ultrasound, they measure and check everything to make sure the baby is growing right. They can learn alot about your baby from this ultrasound, its amazing. I had mine done at 19 weeks 4 days, and they measured the baby at 9oz and the baby measured 19 weeks 2 days, so he was right where he needed to be :). The only thing that seemed to be wrong, was that i have placenta previa, meaning the placenta is over the cervix. But again with all things there are things that can be missed. Even if you child has something wrong, you will love it just like you would if it didnt have anything wrong. The also do a test for downs, between 19 and 22 weeks, its called a quad screening. Im having this done on the 7th.

Answer 6

the ultrasound done at 18 to 20 weeks is the one where they check for disorders such as spina bifida, I did not have the downs test, but i was told at the big ultrasound that they look at the pinky fingers on the fetus to see if they can see the five bones, if they do not see 5 then it is a soft marker for downs. They would then recommend amnio to make sure. My ultrasound was absolutely normal, but even if I had had soft markers for downs I would have declined the amnio or any further testing. The only disabilities I am interested in knowing about are ones that are physical and would need extra prep before birth.

Answer 7

The ultrasound can also tell if there is anything wrong with the bones and spine. It can't tell you if there are genetic abnormalities, but if there is just anything generally not right. Then the parents have the option of doing an amniocentisis to see if there is a genetic factor to it.

Answer 8

Screening ultrasounds and amnio-centesis are NOT required. You have every right to refuse these types of tests, or to request not to be told if the doctor SUSPECTS any type of abnormality.

Amniocentesis can cause premature birth or cause the baby to die. Many mothers are not interested in whether their unborn baby MIGHT have any problems because they would never consider abortion regardless of the situation.

Also, these tests frequently give false positives for abnormalities, then when the babies are born, or even after they are aborted, it becomes clear that there was nothing at all wrong with them...they were perfectly healthy.

I refused these tests when I was pregnant with my two sons and they are just fine. Don't take the chance that amnio will harm your baby, but if you do, and the test indicates that there MIGHT be something wrong, please choose life.

WHY CHILDREN WITH MEDICAL PROBLEMS DIAGNOSED BEFORE BIRTH SHOULD NOT BE ABORTED. THE PRACTICE OF EUGENICS AND THE WAR AGAINST THE WEAK
http://www.waragainsttheweak.com/offSiteArchive/www.sfgate.com/index.html

Answer 9

I went last week to have the special ultrasound with the geneticist. Reason for it was because we decided not to do the quad test and I'm 35 right now. I assume you haven't had the test yet. They check to see finger, toes, back developing properly, make sure your organs and baby's organs look right and are proper size. They measure the organs and check to see if anything looks off. If so, they'll tell you what to look for and if any problems they'll recommend more tests. It was about a 1/2 hour in time. Very thorough.

Answer 10

They use ultrasounds to detect birth defects (like extra toes, spinal openings, etc.), but they can only find what they can see. If there are other issues, such as Down Syndrome, blood tests are initially run and if those come back with less than desirable results, they may want to test the amniotic fluid that surrounds the baby.