Amniocentesis [Removal of amniotic fluid] for a Cystic Hygroma

Dr. Carlos Monsalve detected a cystic hygroma (fluid on the skin of the fetus) and performed an amniocentesis (extraction of amniotic fluid) 😷💉🤰 to determine if it was a congenital or chromosomal defect.

It is natural for a mother to be afraid when hearing that a needle must be inserted through the belly to extract amniotic fluid near the baby, but it is a routine procedure and without risks when performed by experts.

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What is cystic hygroma?

Today I want to talk to you about amniocentesis. This is an invasive study that is carried out in those cases where a chromosomal problem can be suspected. This is a case that was sent by an external doctor in a 12-week-old baby where he was going to undergo screening in the first trimester and While doing the study, cystic hygroma was detected, which fortunately is not so frequent but it is very interesting. Remember, knowledge is power.

In week 12, this patient came to us with a baby to carry out the screening of the first trimester. During this study, we detected an anatomical defect, a congenital defect, which is called a cystic hygroma. A cystic hygroma is an accumulation of fluid that is located through the baby’s skin, that is, a lot of fluid, basically lymphatic, but that distends all the baby’s skin at the level of the skull, there is never an ok back and there may be variants, some more severe, some milder, many times this pathology of cystic hygroma is related to chromosomal problems, so that is why the main indication for amniocentesis was to have detected this pathology of cystic hygroma, and we have to do an amniocentesis to rule out 100% that it is not related to a chromosomal problem, such as Turner syndrome. Okay? Otherwise we could not know if it is nothing else a congenital defect or a defect associated with a chromosomal process.

This patient, once we did the first trimester screening, necessarily has to wait until week 15 to carry out this study, which is the amniocentesis. A congenital defect What does it mean? What is an alteration, a malformation that is taking place prior to birth during pregnancy and what we have to rule out is that it is not associated with a chromosomal problem, that is, that it is a congenital defect caused by a chromosomal problem, that it has an alteration at the level of their chromosomes.

What is amniocentesis

Amniocentesis is an invasive procedure that is performed in the office, no anesthesia is required, no preparation is required. The only thing that is requested is that you have at least 15 weeks of gestation.

How is amniocentesis? A very fine needle is used with which we reach the uterus through the abdomen of the mother to where the baby is located, where the amniotic sac is, and we take a sample of that liquid. Many times we are scared to hear that we are going to put a needle through the mother’s abdomen and that we are going to reach the baby. I can tell you that the risk is minimal, it is very low, in the literature the risk of something happening to the baby We are talking about 0.5%, what does this mean that out of every 200 years in crisis that we do, only one baby could be lost due to amniocentesis and nothing would happen to the other 199. With the experience that we already have, we already exceeded two hundred amniocenteses a long time ago and nothing has ever happened to any baby.

Why do I say that it never happens to him? We do this using ultrasound so we are watching the baby all the time when we are doing the puncture, which means that we are never going to bite a baby. Okay? With the needle we are going to reach the liquid directly and extract the liquid. This procedure will take us two minutes. Sometimes we take longer where we are going to make the puncture site, but once we do it, it is a procedure that does not last more than It doesn’t hurt for two minutes, it doesn’t hurt more than a prick in the mother’s bottom, it doesn’t hurt more than that, they’re strange sensations because it’s a little itch through the skin and then a strange sensation when it goes beyond the uterine cavity and there It is where they feel like a small colic but once the procedure is done the patient is asymptomatic.

The only thing we recommend when we do an amniocentesis is: The first 24 hours rest at home, this is what for? So that by having penetrated towards the sac towards the membranes if they were fragile to avoid a rupture then it is better that they remain at rest for the first 24 hours and that yes the following week without making efforts they can lead a normal daily life but without effort.

Ultrasound visualization

In the video we are doing the ultrasound and we are determining the best place to perform the puncture. You will see that the baby is very high up, so we have to take our time to wait for it to move and we find what we call a ” Maximum liquid lagoon” which is all that looks black, our sound is water, there we move the baby to try to have a better window, a better space and to be able to make a cleaner puncture without touching the baby or the placenta and make a single puncture to directly enter the amniotic fluid.

This case is that of the baby where we are going to find here a bulge behind his neck, where it is the cystic hygroma, all this black that you see is between the baby’s skin, it is the lymphatic fluid that is called cystic hygroma when it is found in these amounts here once we identify which is the best site. We are going to see how the needle passes here and it is this little point that shines, that is the needle, they are always used, you are always separated from the baby, this is what is happening here and there is the needle, so we never touch the baby, we never prick it, even the baby may be moving around but we always have the needle separate from what the baby is if the baby moves we move if the baby stays still there we stay still there we have finished making the puncture and right now they are going to see how the needle comes out, that this is this little point that shines, the liquid is being collected there.

It is important to know that the amount of fluid we remove is not going to affect the baby, we do not remove it… If you notice there is no apparent decrease in that amniotic fluid, how much do we remove? From 15 to 20 milliliters that amount of fluid the baby will recover in 36 hours and that amount that is missing at that time will not cause any defect to your baby. We just did this procedure on Monday the result during the study the advertiser if we have two studies: One that is called FISH and another that is the complete karyotype of the baby during the FISH we are going to have a quick study of the main 5 affected chromosomes, that takes us a week, which is where we are going to extract the chromosome 21 on 13 on 18 and sexual X and Y and then you have to wait depending on how you cultivate those cells is around 14 days from 2 to 3 weeks and then we will have the complete karyotype of the baby.


In approximately 14 days we will have the results and once we have the results we either post it in the comments or make another video to let you know what was the result of this and cystic hygroma. What do I recommend? Always a pregnant woman launches the first trimester screening, that is what will give them the guideline to perform or not perform an amniocentesis with them, they will see if it is important or essential to do this study.

Second part, the results are here!

Thank you very much for your patience to all those who have been on the lookout for the case through your comments and messages. It’s been a long few weeks but the results of the FISH and Amniocentesis Karyotype have finally arrived.

Part 2 – Results

You will remember that a couple of weeks ago we performed an amniocentesis on a patient who came with us because they had detected a malformation in the baby, that malformation was a cystic hygroma, that is, it had a very enlarged, very thickened part of the nape of the neck, an accumulation of liquid, then, under the suspicion that it could be some chromosomal disease we did an amniocentesis. I have to remind you that everything went very well, that there were no complications with the procedure and that the baby is currently in very good condition.

Well, we already had the result, this was a double result; One that they gave us a week that is a quick study that is the FISH, where they are going to give us the main 5 affected chromosomes that are 21, 18, 13, 11 and the sexual X and Y. good in That result showed that he was healthy, but we had to wait for the final result to be able to study the 23 pairs of chromosomes, for that it takes about 15 more days. Once they gave us the result, they gave us the news that the baby is healthy. So, at the end of the day it is good news because chromosomally this baby is healthy, the mother did not make the decision to terminate her pregnancy and once the baby is born, the hygroma can be corrected, so, well, I wanted share it with you before the end of this year, with good news we performed an amniocentesis on that baby, in which case it came out healthy.

In fact, in week 15, which was when we performed the amniocentesis procedure, the mother wanted to know what kind of sex her baby was and we were able to confirm 100% that it was a boy. You know that in most clinics you find out from week 18, week 20, until they are already 5 months pregnant.

We can tell you 100% the sex of your baby from week 15 and this result was confirmed with the karyotype that was performed on the baby, which is indeed a boy.

I also take this opportunity to wish you a Merry Christmas and a prosperous and Happy New Year, on behalf of the entire Creafam family we wish you the best for you and your entire family, thank you very much.

“At Creafam we have already performed over 200 amniocentesis, it is a study that we have been doing for many years where we can ensure your well-being”

Dr. Carlos Monsalve
Dr. Carlos Monsalve
Specialist in gynecology and obstetrics

Perinatology, invasive techniques and obstetric ultrasound.
Hospital Universitario La Fe, Valencia, España.

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