Posted on April 24th, 2017 by wombwithaviewblog.com

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 10-12 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.

NT may or may not be performed prior to 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.

Pocket of Amniotic Fluid-amniocentesis

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. Usually, the needle is inserted with ultrasound guidance. They’ll ensure it is entering into the pocket as expected. 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 will be sent 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!

You’ll then be cleaned off a bit with a band-aid over the site. Many times it’s even hard to see on your skin where the needle was 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 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:)

 

 

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Posted on September 30th, 2015 by wombwithaviewblog.com

One of the highlights of parenthood for everyone is the day they hear the words “It’s a Girl!” or “It’s a Boy!”, no matter whether they are heard in the delivery room or the ultrasound room.  While no one ever invites news that something is not quite normal, it’s rarely expected that the problem will be with regard to fetal sex determination. I recently received just such an email about the subject of ambiguous fetal genitalia. Some of the technical information of the case has been omitted.

concerned mom:  I was just told by a doctor at the perinatal center that my baby’s genitals appear abnormal on my late 3rd trimester ultrasound. My only other scan was at 20 weeks and I was told “probably boy” but it took the tech a while to make that guess. I’m aware that there are a range of genital abnormalities that can occur so I asked my physician if she saw both male and female parts. She told me she thought it was a boy but admitted that it can be hard to distinguish labia from scrotum (because of the appearance of the presumed sac and questionable small penis). I was referred to get some genetic testing done but I sense the chromosomal info will still leave me with questions about the probable condition if there is a mismatch between genotype and phenotype.

I’ve gathered info on some of the more common genital abnormalities to try to come to overcome disappointment and find peace. I find myself wondering about this one doctor’s opinion and likelihood of accuracy. In your years of practice, do you find labia and scrotum difficult to distinguish towards the end of pregnancy? I realize you can not confirm or clarify the details of my particular situation but I’m still interested in your general thoughts.

Thank you for sharing your expertise.

wwavb:  Firstly, I will say that a perinatologist should be the most qualified physician to answer these questions for you. Her specialty being high-risk pregnancies qualifies her as the go-to for your general OB for all things presenting as unusual. Though it is one doctor’s opinion, it is a highly specialized one and she would be able to provide answers for you to a likely far greater degree than your general OB.

I can only speculate here, of course, but it sounds as though the perinatologist has questions, too, and ordered genetic testing to help clarify whether baby is genetically male vs female and to possibly rule out whether a chromosomal abnormality could explain the physical appearance of the genitalia. I imagine any information it yields could only help aid your physician in a diagnosis which can, in turn, aid you in the educational and emotional preparation of baby’s condition. I have to advise here to not consult “Dr. Google”, as we refer to the Internet in our office, because it only adds to your confusion and provides a whole spectrum of variables of potential diagnoses that do not apply to your case. I know it’s hard to wait but, truly, until you get genetic results, all of your time spent looking for answers can compound the problem in your mind and peace is the last thing you’ll find there…it typically only leads to more questions. The only time I find it’s good advice is if your doc has referred you to a specific site.

In my experience, gender typically becomes easier to distinguish as pregnancy progresses, fetal position providing. Your case, though not frequent, is the prime example for why we prudent sonographers do not throw out a random sex guess with a quasi peek. It’s why, also, I never guess prior to 18wks or any time if I cannot see well with respect to all the variables that can hinder that determination. Later on, the labia become more full and, sometimes, the clitoris remains visible. Testicles usually descend about 28wks which are typically easy to visualize, and though penis size does vary, it still is fairly easy to see in most babies.

Below are links for some of my normal-appearing male and female genitalia images at different times in pregnancy:

http://wombwithaviewblog.com/female-gender-on-ultrasound-2/
http://wombwithaviewblog.com/boy-vs-girl/
http://wombwithaviewblog.com/twin-gender-update/
http://wombwithaviewblog.com/third-trimester-male-gender/

I hope my information hasn’t been entirely redundant and that I’ve helped in some small way. I wish you all the very best and, please, if you don’t mind, I would love a follow-up email once you have more answers.

Take care and please do not hesitate to contact me if I can assist you in the future!

Regards,
wwavblogger

***

Ultrasound and other antenatal testing was created, first and foremost, as a vehicle to education, understanding and preparedness when our pregnancies become challenging with information and events we don’t understand.  There has been no better time than the present for medical advances and those with the ability to use and understand them to hold our hands and help us navigate through the roller coaster of emotions.  The goal in the end is the most healthy baby and educated parent(s) to care for him.  And although what results for medical professionals is education through experience, it’s ONLY the experience of treating such patients that creates the empathy to care for them.

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