Posted on April 24th, 2017 by wombwithaviewblog.com

Amniocentesis…All Women Need One??

Who needs an amniocentesis? When should an expectant mother consider an amniocentesis? What factors help a patient decide if an amniocentesis is right for her? Only your doctor can help you make this decision, but you can find out a little more about first-trimester genetic testing…some very basic information…here.

The internet is filled with all kinds of misinformation, right? I think most of us realize this and, hopefully, take forums of personal opinion with a grain of salt. However, I read an article last night in a popular parent/child site that I felt was a bit disturbing. We expect more credibility from these sites, don’t we? Shouldn’t we expect their information comes from a knowledgeable source? Maybe it did, but the author should have been more careful with her words. Maybe an author should have to meet more strict guidelines before publishing important recommendations for pregnant women.

So, the article was all about ultrasound…a subject with which I’m pretty familiar. She had a few tidbits of information incorrect. Of course, I had to respond with a comment correcting them. But one statement I vehemently disagreed with was one regarding amniocentesis. The author stated that any expectant woman over the age of 35 or with a family history of genetic abnormalities should have an amniocentesis. Should? This statement should have never been printed. Women faced with this option may search the internet for information to help them decide. I would like to think their decision would not hinge on an article found on the internet. In the same respect, I’m sure their readers consider them a reputable site filled with only accurate information.

The truth is that no woman should just hop aboard the amnio train (we use “amnio” for short in the field) without a serious discussion with her obstetrician. Granted, no obstetrician would perform an amnio without discussion and signed consent from the patient. However, I would hate for this article to automatically sway any pregnant woman to believe she needs it. The test and its results are not without repercussions. With that, I felt my next post should expound on the topic to the extent of my experience with it.

Things to Consider Prior to Amniocentesis

Genetics gets quite complicated, and some patients find it difficult to understand all they’re told. For this reason, I won’t go into too much detail about the different types of testing and what they can detect. This is mostly because I do not have this information. However, your doctor does. Most patients don’t just jump right into having an amnio. A patient is usually first asked whether she wants chromosomal testing.

Desiring this testing is typically based on a patient’s “need to know.” Why do you want the information?  If your mentality is such that you will have this baby no matter what, and you don’t need to know anything in advance, your doctor may say first-trimester testing is not for you.

However, if you are the type of patient who NEEDS to know normal vs abnormal, a host of other questions opens up for you. Will you abort this pregnancy depending on results? Or is abortion out of the question? If so, do you simply want to educate and prepare yourself and family for what is to come? If so, this testing may be for you.

What’s Included in Genetic Testing?

Some genetic testing includes bloodwork and/or ultrasound, the NT or Nuchal Translucency test which are all usually performed somewhere around 10 weeks to 12 weeks. It does not always include an ultrasound; that depends on what type of testing your doctor offers. The NT scan requires certification of the sonographer who takes special pains to measure a fold of skin behind your baby’s neck.

amniocentesis

NT test

This measurement, IF it can be obtained, then goes to a lab with your bloodwork. Sometimes the measurement cannot be obtained if Baby is not in a good position or if the image is not clear enough. Recent developments in bloodwork have become more reliable than performing an NT. Some physicians, therefore, no longer offer the NT and only offer the bloodwork. Some docs still offer both.

What Do the Results Mean?

If you elect to move forward, the next thing your doctor may explain is that this testing only determines your RISK for certain abnormalities; it does not confirm an abnormality. It is a risk assessment only. Your obstetrician’s office may perform this testing, or she/he may refer you to Maternal Fetal Medicine (a perinatologist, otherwise known as a high-risk OB doc).

If your results come back as low risk, GREAT! It means the chance that your baby actually has these abnormalities is low. Your next test would then be your anatomy screen at 18-20 Weeks to rule out structural malformations.

If your testing comes back as high risk for a particular problem, it will state which problem along with your risk level. This is where amnio comes into play. The amnio WILL confirm whether your baby really has this problem. You will have to decide whether you want to have this procedure or not. Your doctor will explain the risks and benefits of an amnio. The risks may be almost non-existent for infection and (last I knew of) around 1% or less for miscarriage. The risk may be significantly less, so be sure to discuss this with your doctor. The benefit, of course, is determining exactly what kind of abnormality you are dealing with so as to help you prepare in whatever way you feel is best for you and your family.

How Is an Amniocentesis Performed?

Basically, a sonographer will scan you to look for an adequate pocket of fluid. The doctor performing the amnio will determine what is a good pocket and what isn’t. Typically, they like to stay away from Baby’s head and your placenta, depending on where it is located. A nice pocket of fluid might look like the image below.

amniotic fluid test

Pocket of Amniotic Fluid

The sonographer will measure your baby’s heart rate and anything else the physician requires. The physician will then clean off the area of your skin with betadine just above the desired pocket of fluid (as long as you’re not allergic to it!). Sometimes she may use a numbing agent for the skin, sometimes not. If not, it’s because she can only numb the skin and not down deep. The numbing agent feels very similar to the needle used to withdraw the fluid, like a stick and a burn and a lot like a bee sting. Since this is the case, some docs would rather stick you only once and elect to not numb the skin.

If you have an aversion to needles, you may want to look away. The needle is long because it has to reach the fluid. Sometimes, your physician will use ultrasound guidance to insert the needle into the pocket of fluid. Once there, the doc will attach a syringe to withdraw the fluid. Once she has enough fluid, she’ll remove the needle and push the fluid into a vial. The vial goes off to the lab for testing. If all goes according to plan, the whole procedure of performing the amnio will take about ten minutes or so. Pretty quick!

Your sonographer or doc will clean off your skin and add a band-aid over the site. Many times you may even have a hard time seeing on your skin where the needle inserted! Your sonographer will usually measure Baby’s heart rate one more time, and your doc will give you instructions on receiving results.

What If I Really Don’t Want an Amniocentesis?

It’s important to note here that if you do not elect genetic testing and your ultrasound later reveals significant abnormalities, your doctor may strongly recommend an amnio. She/he may also do so in the case where you don’t really want an amnio, but your testing came back as high risk. Your doctor cannot force you to have an amnio. However, knowing what is at stake helps them manage your pregnancy and delivery more safely and effectively.

What to Ask Your Doctor about an Amniocentesis

It’s hard for us to ask questions about something if we don’t fully understand it. That’s understandable! Some questions you can ask your doctor are:

  1. What fetal abnormalities does the testing detect?
  2. What kind of genetic testing do you offer?
  3. Will my insurance cover this testing?
  4. Who will perform these tests?
  5. Where is testing performed?
  6. When will I get results?
  7. Why is the testing recommended?
  8. What are my options after receiving results?

 

Having a thorough conversation with your doctor about these issues and how you feel about them is of utmost importance. And, yes, some genetic testing today can determine your baby’s sex with greater than 99% accuracy. However, your doctor will not allow you the option for sex only. No one should take genetic testing lightly. Opting for these tests brings about other serious implications that you must weigh, as you can see by the above explanation. If you have a sincere interest in the testing, knowing that you may face serious future decisions, genetic testing may be for you.

So, for all the above reasons, one should be careful when throwing out recommendations to pregnant readers about what they need and don’t need, about what they should do or not do…especially if she is not a physician herself. In short…ladies, rely on your doctors for pregnancy advice! No pregnancy site or blog, including my own, can take the place of an informative and knowledgeable conversation with your obstetrician.

Here’s to your happy and healthy pregnancy:) You can email me at wombviewerblog@gmail.com!

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Posted on February 20th, 2014 by wombwithaviewblog.com

What’s the NT Scan?

The NT or Nuchal Translucency scan is a first-trimester ultrasound screening test for chromosomal abnormalities which I performed for a couple of years. Sonographers require special certification in order to perform this examination. I will not get into any serious depth regarding the types of chromosomal problems relative to what’s included or excluded. I am not a doctor or geneticist! Ultimately, only your doctor can give you the most pertinent, accurate, and up-to-date information as well as answers to all your questions on the subject! I am literally only scratching the surface here from an ultrasound standpoint.

Email From a Reader with Questions

reader:  I just read about NT scans and how they can be a way to detect Down syndrome. My doctor never mentioned anything about this to me. Do you think it was done during my 12-Week dating ultrasound? Or is this something that you need to specifically request? I’m 29 and have no family history, so I’m not sure if that’s why it wasn’t offered. After my 12-Week ultrasound, she did offer other tests. But she said I wasn’t high risk, and we opted not to do them. Thank you for your time!

wwavb:  I can certainly chime in on this because I did the NT scan for a couple of years. So, I know a bit about them. Actually, you answered your own question! The tests that your doctor talked to you about may have included the NT scan, but you opted not to do them.

The NT scan is an attempt at a measurement of the nuchal area along with a finger stick. The nuchal area is a fold of skin behind Baby’s neck. But we cannot always obtain this measurement. It is probably one of the most tedious examinations I’ve done, and this measurement can only be taken one way. There are a number of variables which depend mostly on fetal position that dictate this. If we can’t obtain the measurement, we cannot perform the test.
NT measurement
If all the stars align, and we actually do obtain this measurement — yay! Success. The sonographer fills out a form which she sends to the lab along with your blood. The lab takes the measurement from the scan and some numerical values from your blood and personal history. All the values then plug into a formula.
The result determines your risk or chances for having a baby with certain chromosomal abnormalities – Down Syndrome is one. This result does not tell you whether your baby has these abnormalities or not, only your risk for having a baby with this problem. If it comes back elevated, you have to then decide whether you want to proceed with other tests like amniocentesis. An amnio can determine if your baby has a particular one of these abnormalities.
For your greatest clarity, you should ask your doctor at your next visit if the NT is something she would have offered. If you have a concern and would like to look into genetic testing, certainly discuss with your doctor what options she would recommend for you. She is your best educator!
*** 
Hope that helped!
Here’s to your happy and healthy pregnancies!
You can email your questions, pics, stories, or comments!

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