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Vol 3 Birth defects* ends of pregnancy

Shieva Ghofrany: [00:00:00] Hi everybody. Okay, this is volume three in our discussion of pregnancies that have ended, I'm using the term ended because I don't like to use the other terms that we used in the other volumes. Volume one. Was miscarriages, otherwise known as spontaneous abortions. Volume two was also miscarriages in the emotional components. 

Volume three, this is the hardest one, and this is the one that has to do with when a woman has to choose to stop a pregnancy because of birth defects or because there was harm to her. And I would also include that harm might be emotional, and I say that because I don't think any woman takes this. The termination of a pregnancy. 

Okay, but we're discussing specifically second trimester terminations, specifically when you find out about a birth defect in this particular case, many of you have written to me in the last week or two and asked me to talk about [00:01:00] this when I was talking about miscarriages. So here's what we're gonna talk about. 

First of all, as you all know, , if you followed me at all. I've been through a ton of stuff so I can comment on a ton of stuff and I just feel just plain lucky that this is one thing that I have not had to go through. And so I do feel ill-equipped in actually addressing it very well outside of being a doctor, meaning I can comment on terminations, I can comment on birth defects. 

I cannot comment on the emotions outside of what I can imagine, and I can only imagine how deeply emotional it. So that's said, let's talk about the facts. About three to 4% of all pregnancies will have a birth defect, but that encompasses all birth defects, even singular birth defects that are completely survivable. 

For example, my second child had a clubfoot. Clubfoot is a true birth defect or what we call anomaly, but it's an example where the feet, instead of like looking like this one will be up and in, and so it can be fixed, [00:02:00] absolutely needed to be fixed because if not, he would've been. Unable to walk but could be fixed. 

So all in three to 4% birth defects, the majority of which can be dealt with if not fixed or don't need to be fixed, but they are survivable. But of that three, three to 4%, there are some birth defects that are unfortunately either incompatible with life or will confer a very challenging quality of life. 

For example, an ceha where the base of the BA of the baby's skull. not there, or chromosome abnormalities like down syndrome. This is the part that gets a little confusing. There are chromosome abnormalities where the genetics of the infant are abnormal. The aga, the sperm got together, they did not create the right genetic material. 

The chromosomes are abnormal, like down syndrome, and those babies tend to also have. congenital anomalies, meaning birth defects. Separately, you can have babies with birth defects. Congenital anomalies meaning birth [00:03:00] defects from birth congenital, that's different than genetic, which can either mean inherited or their genes are abnormal, like down syndrome. 

It's all very confusing. I know for the purposes of this, we're gonna talk about genetics like down syndrome, meaning abnormal ch. That they did not inherit. They just egg in the sperm created the wrong material. I hate saying wrong because those babies are still, when they survive, precious babies. , but egging sperm made material that was not considered what we are supposed to have, which is 46 chromosomes down syndrome. 

Babies have 47, they have an extra number 21 chromosome. So again, down syndrome or birth defects, like multiple physical anomalies, birth defects that are either in a constellation where there is a defined syndrome or singular birth defects that. Confer challenging quality of life or multiple of birth defects that haven't been defined as a syndrome. 

How would you [00:04:00] discover these? So at between eight to 10 weeks nowadays, you can have a test called the cell-free d n a, or it can be called the nip it, the N I P T test, non-Invasive Prenatal Test. That will tell you what the chromosomes are. It's brilliant. It makes you not have to have an amniocentesis for the most part anymore. 

It's a, not a hundred percent, but as close to a hundred percent as you can get it is the baby's chromosomes that are essentially secreted into mom's system, is the easiest way to put it. Blood test, non-invasive prenatal test. Eight to 10 weeks. Seven to 10 days later, you get a lab slip. Doctor calls you and says, Chromosomes were normal. 

Great. That's eight to 10 weeks. Next test, at about 12 weeks, you have an ultrasound that's called the Nucle Translucency. Thickness behind the baby's neck. Nucle. That ultrasound can tell us about some other anomalies. Birth defects, meaning heart defects, abdominal wall defects can show up with excess fluid in the back of the baby's neck. 

That's normal. Great. One more thing off the list. [00:05:00] Next ultrasound, 18 to 20 weeks, what we kind of jokingly call it the big ultrasound. It's also called the level two ultrasound, or the anatomy ultrasound that will look at all of the anomalies that could exist, meaning it's gonna look at the head and the heart, and the brain, and the lungs, and the kidneys, and the bowels and the skeleton, and it's going to make sure that everything looks as normal. 

As the ultrasound tech can see, and when everything looks normal, then the likelihood of the baby having a birth defect is very small. Can there be abnormalities that are birth defect that are completely fine? Yes. Can there be abnormalities that are not even real true birth defect? Yes, and I'll do another video on it. 

For example, it's really common to have cys in the baby's brain, fluid in the baby's kidneys, things that are not even considered birth defects. They're just markers on the ultrasound that will often. Separate video. Let's say you have true birth defects that are either defined as a syndrome that is abnormal, or you found out you have down [00:06:00] syndrome or other birth defects that are not a defined syndrome, but are just um, Significant enough that the doctor can tell you that they are likely going to lead to a very challenging quality of life. 

At this point, you will probably be with an M F M, meaning a maternal fetal medicine doctor, otherwise known as a perinatologist, otherwise known as a high-risk OB doctor, meaning your regular general ob, G Y A n N, like me. We'll likely at this point have referred you to that specialist. In our practice, that's who actually does our fancy ultrasounds. 

In many other practices throughout the country, the generalist might have done the ultrasound, but then they might refer you to the specialist to further explain, to further help decide, is this true? Is this not true? What does this mean? And what are the choices? At this point, you decide if you are continuing the pregnancy or not, and if you've chosen to stop the pregnancy, then the doctor helps decide. 

form of termination, you choose and the procedure will either be [00:07:00] delivering vaginally where you get induced with medication, much like an induction at the hospital if you're delivering full term, where the medication causes your uterus to contract. The pros are that if you feel like you need the emotional closure of. 

Holding the actual infant, then the baby will be born intact. The downside, as you can imagine, is that it is a long process and it can lead to a different set of emotional issues. Very personal to you. Um, the alternative procedure is a D N E dilation and evacuation, where again, in our situation, the MFM doctor does it. 

Depending on where you pr you are in practice, sometimes you might have a family planning specialist. Maybe a generalist, if they're well-versed in it. It needs to be someone who performs these regularly because they are, um, surgically procedures that need to be done. Well. This, the surgeon will gently dilate the cervix overnight, typically with a certain medication, and then under [00:08:00] ultrasound guidance, remove the pregnancy. 

The downside is it is often not removed intact. The upside is that the woman will likely be able to be. And then not necessarily have to have the same emotional aspect of going through a long labor. I think that the whole situation is so emotionally challenging that we as a medical community probably do not do a good enough job in helping women afterwards with the PTSD that ensues and with the anxiety and probably, while I think it's unwarranted, but guilt that ensues. 

I'm deeply, um, Happy that we're still in a country where women have these choices. I'm also saddened by the fact that these choices are very politically charged and emotionally charged. And the one thing I wanna say in parting is that if this ever happens or has happened to you, please remember. You will have a baby. 

Many of you do have babies [00:09:00] already after this has happened. I have never met a patient of mine who hasn't had a baby after this has happened, cuz the likelihood of this recurring, whether it's down syndrome, whether it's another chromosomal abnormality or another fetal anomaly. Again, birth defect is so incredibly small. 

So take heart. If you are in the middle of it happening, if it has just happened, if you are pregnant with your next pregnancy, you're gonna be okay. The emotional aspect is, , but you'll be able to do it. And I say that because I've seen it and I know it. Sorry. And I got cut off. But I've seen it, like I said, and I know it. 

And I need you guys to tell me how we can help as the medical world. Cuz like I said, I don't think we're doing as good a job as we can. And maybe what we need is for you guys to reach out and tell me, and I'll have groups of you get together who have been. And you guys can support each other. You probably already are. 

You're probably on support groups. I hope you are. And if you want to reach out to me and have me set you up in support groups with each other, I'm [00:10:00] happy to do that. Okay? So I'm sending you love. I cannot imagine what you've been through, but I know you can do it.