Pregnancy

NIPT – To Screen or Not to Screen

NIPT tests are screening tests for trisomies that are offered to women over 35. They have proven to be correct more often, meaning predicted the correct outcome, more often than the previous first trimester screening. They take just a simple blood sample and can be performed as early as 10 weeks. Common names are MaterniT21, Harmony, and Natera.

During my pregnancy with my oldest son, I was offered the Harmony NIPT test. My doctor was out of the test kit so I left with a lab requisition and was to come back in a few days.  On my way home I started thinking that I recalled seeing something on the news about these tests, but couldn’t put my finger on it. 


Once home and researching, I found the segment I had seen.  The story is here:https://www.nbcnews.com/health/womens-health/prenatal-tests-have-high-failure-rate-triggering-abortions-n267301

Basically it was a false positive for Edwards syndrome and a false negative for Downs syndrome.  This lead me down a rabbit hole of research and ultimately to understand the limitations of the tests better. 


Here is another example of a sad false negative and false positive. https://www.wgbh.org/news/2014/12/13/oversold-and-misunderstood

So next I went looking for my real risk. It’s true that at 39, my risk of having a baby with downs syndrome was 18 times higher than when I was 25, but what does that really mean?  The truth is that at 39 years old, I had a 0.73% chance of having a baby with downs and 1.2% of having a baby with any trisomies.  So I had a 98.8% chance of having a normal baby, based on my age and stats alone. 

 You can check your risk level here:https://embryology.med.unsw.edu.au/embryology/index.php/Genetic_risk_maternal_age

I then found this link which tells me the chances that a positive per each issue is a true positive or false positive.  It was pretty shocking to me, as some combos come up to 50/50.  I could flip a coin.  https://www.perinatalquality.org/Vendors/NSGC/NIPT/

So ultimately I concluded that I would be screening to see if my baby fell into the tiny statistic and then if I actually got a positive, I would either assume a small risk of miscarriage to confirm or disprove the result, or spend the rest of my pregnancy worried.  
Combine all of that with our perfect NT scan and it just didn’t seem worth it to me.  Kind of a waste of effort (like these whole grain cheez it’s Delta is now giving out on flights!?)

Most of the time the tests results are right.  Much of the time it is valuable and puts people at ease. I have seen a ton of women take them and they are correct and all is fine with their baby and they enjoyed knowing the gender early.  I have seen one woman get a positive for Patau, do a confirmatory amnio and lose her normal baby to infection after.  Maybe it wasn’t the amnio, she will never know, but she regrets her decision so much.   I have seen women refuse the amnio and have stressful pregnancies, some resulting in normal babies, and some not.  Often the ones that do not also have obvious markers on ultrasound.  

On the flip side, I have seen the test identify a rare disorder, XXY, Klinefelter syndrome. This is often not found and if known, treatment can be given early that can make a marked difference in that boys life. In these cases, those tests are blessings, making the decision to test or not even more complicated.

To NIPT or not is really a very personal decision that should be made by the couple. If you have any doubt or questions, you should have access to a genetics counselor. Just be sure if you see one you are clear on who signs their paycheck, as some work for the testing companies. A non-biased third party can help you choose.

I would love to hear opinions on these tests.

Pregnancy

Pregnant over 40

Have you ever woken up and asked someone when did you turn 40?! And have them answer, “3 years ago”. Does this happen to anyone else?! I didn’t mean to get this old, but I guess it’s better than the alternative!

Because first off, I didn’t want to have kids too young. Married at 28, just a baby I thought, and to an exciting man who loved to travel and live life to the fullest, and with both of us being career focused, it just seemed silly to rush into kids. Then because when it seemed just the right time to have baby #1, you know like 33.8 years old on the nose, (cause you think it’s gonna just happen right away) it wasn’t easy, I woke up one day pretty old and still childless.

I had my first bring home baby, sweet son #1 in May 2016, exactly 4 years after my first RE appointment, at 39 years old. I had my second baby, the sweetest little man ever, in October 2018, and celebrated my 42nd birthday the day after he was born. Did I mention he was naturally conceived? Oh the irony.

Where I live, just north of NYC, bordering the Bronx, if we see a young girl with a stroller we assume she is the au pair. I am not an anomaly at all. A very unscientific Facebook poll in a local mom’s group concluded that 37 was the average age for first baby around me.

When pregnant I felt tired. I was never very sick. I felt pregnancy brain and some strains and pains here and there, but ultimately never felt what I imagined it to be. It didn’t hurt that I work from home and can essentially wear pajamas all day if I need.

I don’t have anything to compare to, being pregnant over a certain age vs being pregnant in my 20s, but I spoke to some women in my groups to get their take.

Vic G. had 3 pregnacies, at 28, 31 and 43. At 28, it never crossed her mind that anything could go wrong and she told everyone early on. By her last pregnancy, she held it in till 23 weeks due to a string of 10 miscarriages. I can relate to that so much. After our twin loss, I wouldn’t even use the P word (pregnancy) till we made it to viability. As we age our chances for miscarriage go up and up, and the heartbreak of 10 is unimaginable.

Surprisingly, Vic G. also found her last pregnancy to be the easiest. She was fit and healthy and in better shape than before. But recovery from birth was more of a challenge, easiest she reports, at 31. This makes total sense to me too. I don’t bounce back from cold as well as I used to, let alone hours of labor!

Interestingly, with advanced age sometimes comes a specialist. In my area you must meet a couple of criteria to qualify (though there may be a certain age when you just qualify). The criteria are above 35, used fertility treatments, carrying multiples, diabetic, etc. The specialist, a maternal fetal specialist or perinatologist is essentially the baby’s doctor while they are in your womb.

Having an MFM in addition to an OB is golden. It means more visits, more scans, a bigger team looking out for you. I was thrilled to have the extra set of specialized eyes. Should anything come up that you need to be prepared for, you want an MFM you trust coordinating the care of your baby.

My last point about advanced maternal age is to focus on attitude and appearances. I know I am lucky to be in the community I am where I fit in with the other moms trying to cover our greys and schedule our Botox before daycare pickup, but in many parts of the country, that isn’t the case. Being a mom that is in any way not the norm in your area can be isolating.

Janet spoke to me about her experience. She is in a community of predominantly young families and often feels left out. At a birthday party for a classmate of her 5 year old, she was asked if she was the grandmother then left out of all the small talk. Her advice to others in her shoes is to keep trying. She kept her head up and eventually found her people. Though still 10+ years younger, they get her and make her feel welcome. They bond over playdates and yoga classes and have become a small tribe.

Have you got a story about being an older mom? Please share the good, bad and ugly!

Mommyhood, Pregnancy

Torticollis, my kid was crooked

For 12 weeks I struggled with son #1 not latching. After some research I suspected he had a lip and tongue tie. I called in a lactation specialist and the first thing she said to me was, “oh looks like a little torticollis”. I had never heard that word.

But turned out there was an actual name for my baby’s head tilting to one side. We started physical therapy and went 2 times per week from 12 weeks to almost one year old. At the time we had a nanny and she and I would also do the stretches at home.

My best advice for dealing with tort is to treat it as early as you can. Eventually they fight the therapy. You can do just about if you use a silly song or a toy when your baby is 4 months old, but by the time they are getting around on their own, good luck!

Torticollis is from a stiffened muscle in the neck. It’s too short compared to the other side and needs stretched. It can be caused by laying one way too much or one of the now off the market baby apparatus. My son was smashed under my ribs and even though born via C-section, his head was a squished up mess. His lips didn’t even meet top to bottom at birth. I am pretty sure his tort started while tucked in the womb.

Most tort it seems can be treated by PT and stretching exercises. I did see in some groups I joined that sometimes they use surgical release or injections to help treat the tougher cases.

Sometimes tort goes hand in hand with plagiocephaly, a condition with a flattened area on the head causing asymmetry. Yep, we had that too. It often goes with tort because of the tight neck muscle. The baby doesn’t tend to move the head to the other direction and therefore the one side gets flattened. In our case I think the torticollis definitely exasperated plagiocephaly, but I think it was all there from him being breech and under my ribs. (More on plagiocephaly and helmets coming in another post)

One other point, occasionally the child may be tilting due to eye muscle issues. They do it on purpose to make their vision better. I have double vision when looking up and had a couple of surgeries to fix that in my 20s. For this reason, I did take my son to an opthalmologist to be sure, especially before spending 2 hours a week in PT.

Overall, in the big scheme of things, it turned out to not be a huge deal for us. We got therapy, stretched him out and he is totally normal now. At the time though it was overwhelming. I think anytime you have a baby who needs help in any way it can be overwhelming. There are decisions you must make for your child. It was the first time I was in that position, navigating my way through making the best decisions for him, this person I love more than life itself.

Pregnancy

Incompetent cervix

In May of 2014 after a failed IVF cycle, we were super lucky on an IUI. It was a new protocol for me, low dose meds. My response was bad, like always, but fine for IUI. I had 3 mature follicles at trigger, two others not too far behind. We got the big BFP, big fat positive, and a beta of 92 on day 12 post IUI.

It was the first time I had ever had such a great number and was so reassuring. Even better, I knew it was a positive before seeing the pink lines just due to the overwhelming brain fog that swept through me. I remember the moment it first happened. We were in the grocery, I couldn’t recall what I wanted to buy and was way too tired to walk three aisles over to the dairy section.

Over the next couple of weeks we watched my beta skyrocket and finally got to a scan. We saw one sac and nothing much else. It was early though. We were leaving on a cruise and I wanted to be sure it wasn’t tubal. Sac in uterus, check. Once back we got another scan and saw 2 sacs in the uterus along with two beautiful heartbeats.

I remember thinking that surely I would get one baby out of this. I feel guilty about that thought sometimes, but after multiple miscarriages, somehow I felt like 2 meant my chances for actually having one was higher.

Things progressed and we finally announced around 16 weeks. I was showing already as I am very short waisted so nowhere to go but out. I was feeling pretty relaxed and like we were not only pregnant, but done with the whole fertility world. This was perfect, two in one. Life really had worked out so perfectly.

At my 13 week scan she was pretty sure they were both girls. We picked names over the next few weeks. I planned a nursery and started building a registry. I expected them to be born early, being twins, so picked a date for a shower.

At my anatomy scan, 18 weeks along, we looked over baby A and then baby B and then after all was so perfect, the technician turned white. She had seen my cervix was short. The doctor came in and explained everything to us but it didn’t matter, it was all a haze, like an airplane motor was outside my ears. I didn’t accept that I would or could lose my girls. I was put on bedrest and told to come in weekly.

That was a Wednesday. The following Wednesday I was leaving the hospital, so empty, no longer pregnant.

On Sunday night I woke up to sharp pains in my back, electric shock type of pains. I realized I was laboring. My cervix was open, baby A’s sac was bulging out. I called my OB whom I hadn’t spoken to since the MFM appointment and she told me to go to the hospital. I asked “is it over.” She said yes.

I went by ambulance to the hospital with the highest level NICU. It was the paramedics idea. I knew it didn’t matter, I was too far away from viability. Still I stayed there in bed, head down, for two more days. Eventually my water broke for the first baby and I was bleeding. My bloodwork showed infection. I was told I needed to induce or I risked losing my uterus or my life.

I fought it as long as I could but finally gave in. I took the meds and labored and delivered them. It was painful, my IV had infiltrated and they didn’t get organized enough to give me anything. My girls had heartbeats when they were born, but passed in our arms.

This is what my incompetent cervix story is. This is so similar to so many others. It happens fast, shocks you, and with no warning it takes your babies. If you are lucky, maybe you can make it long enough to make it to NICU. Maybe a cerclage can be placed. But often, the first pregnancy for us fails.

While still in the hospital I was researching all I could. I read about different types of vaginal cerclages, TVC- shidrocker, McDonald, TVCIC, and the TAC. I read about being on bestest after and success rates, some defined as getting you to 24 weeks on tons of restrictions. That all sealed the deal for me. I knew leaving there I would get a TAC, transabdominal cerclage.

So this isn’t a totally sad post I will end it with a quick update. I got my TAC in 11/14 (more on that in another post) and it has brought me two beautiful, full size, healthy little boys with absolutely zero restrictions. Actually really easy pregnancies. My doctor for this is a pure angel, Arthur Haney. I will forever know that he saved my life. He gave me hope when I was at my lowest. He showed me light when all was dark. He gave me my life back when he fixed me so I could have my boys. I hope everyone who goes through these losses finds someone like him.

Here is a link to my angel, Dr. Haney. https://www.uchicagomedicine.org/find-a-physician/physician/arthur-f-haney

And here is an FAQ on the TAC https://www.uchicagomedicine.org/conditions-services/pregnancy-childbirth/high-risk-pregnancy-maternal-fetal-medicine/conditions/incompetent-cervix-cervical-insufficiency/transabdominal-cervical-cerclage

In a follow up post I will be bringing more info about different cerclages and options for incompetent cervix, as well as the wonderful AbbyLoopers group, found here https://abbyloopers.boards.net/. And https://m.facebook.com/AbbyloopersforTAC/

Abbyloopers is the perfect place to start for support through IC, no matter where you are in your journey.