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Q. Can cystic hygroma observed at ten weeks of pregnancy disappear within two weeks?

Answered by
Dr. Richa Agarwal
and medically reviewed by Dr. K Shobana
This is a premium question & answer published on Dec 03, 2021

Hi doctor,

My ultrasound taken at ten weeks of pregnancy confirmed 3.5 mm of cystic hygroma. But my ultrasound taken at 12 weeks confirmed cystic hygroma resolved with NT of 1.4 mm (at 12 weeks). My NIPT test screening results showed low risk (attached). It showed that there is a low risk of having trisomy 21, 18, and 13. In my 16 weeks, I took AFP tests, and it was also negative. The horizon tests are negative (attached). Based on the details mentioned above,

1) What are the possibilities of having further complications or chromosomal abnormalities?

2) If the upcoming anatomy scan going to be taken next week (18 weeks) confirms no other physical problems, do we still need to worry and go for amniocentesis (invasive testing)? We are worried about miscarriage during amniocentesis.

3) If there is no problem in the anatomy scan, is there a need to do further non-invasive testing to diagnose other chromosomal defects such as Noonan and microdeletion instead of amniocentesis? Would you please confirm what other chromosome defects we can test are?

4) Is it possible for the hygroma to go away in two weeks (between 10 and 12 weeks)?

5) Is this misdiagnosed as hygroma (please check the ultrasound images)?

6) Can we rely only on NIPT screening for chromosomal abnormalities?

7) Is there any possibility of having NIPT test false negative?

8) Is there any way to find out whether hygroma was there at ten weeks?

9) Is it possible for hygroma to come back later? What can be the cause if it comes back? Is it going to be a chromosome defect?

10) At five to seven weeks of pregnancy, I had itching in my legs and hands. Is that could be the reason for hygroma?

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#

Hello,

Welcome to icliniq.com.

Thanks for trusting us about your health care. I have gone through your history and understand your concerns. Here are the answers to your questions.

1) It is usually associated with down syndrome, and it may reappear.

2) There is no need to worry about it because hygroma disappears on its own.

3) Yes, it is possible to have other chromosomal abnormalities.

4) Yes, the hygroma can go away.

5) Yes, we can rely on it, but amniocentesis is the best confirmatory diagnostic tool.

6) It is infrequent to rely on NIPT alone.

7) No, only ultrasound helps.

8) The chances of recurrence are there. But very rarely, it may remain associated with down syndrome.

9) It is due to lymphatic drainage obstruction, and so that it may cause itching. I hope you found it helpful. Feel free to ask for more information. Good luck. Regards.

Thank you, doctor,

Thank you very much for replying with all the answers.

1) When there is no problem in the anatomy scan, shall we go for non-invasive testing to diagnose other chromosome defects such as Noonan's and microdeletion instead of amniocentesis? Would you please confirm what other chromosome defects we can test are?

2) We are doing or planning the following non-invasive blood screening test. Is it good enough to do amniocentesis when all the blood screenings are negative or low risk? Since we are worrying about the possibility of miscarriage in amniocentesis, we are planning to do the following non-invasive blood screening test such as

i) NIPT (down syndrome, Edward syndrome, and patau syndrome)

ii) Carrier screenings (cystic fibrosis, spinal muscular atrophy, fragile X syndrome)

iii) Microdeletion

iv) Noonan's syndrome

v) AFP

vi) Full anatomy scan

vii) Fetal echocardiogram

3) Please add if we have to do any other non-invasive or testing as well.

4) Do lymphatic drainage obstructions affect the fetus during early pregnancy? Is this related to cystic hygroma?

5) If we go for amniocentesis, how to avoid miscarriage?

6) In the routine pregnancy check-ups, we did a scan at eight weeks and an NT scan at twelve weeks. When the hygroma occurs and disappears, how would the parents know when the baby was affected by cystic hygroma, and any possible complications can happen?

7) Since, in our case, we, fortunately, did ultrasound at the tenth week, so we were able to diagnose the hygroma. But for our first child, we did scans at eight weeks and twelve weeks, respectively, and we did not face this. She is healthy and two years old now.

8) If the hygroma disappears before twelve weeks, are there any possibilities of having chromosome defects?

#

Hi,

Welcome back to icliniq.com.

Thanks for trusting us again. Here are the answers to your questions.

1)Yes, you can go for non-invasive testing for other chromosomal abnormalities, as you mentioned in the questions.

2) These non-invasive tests usually rule out the possibility of many congenital abnormalities, but we do amniocentesis for confirmation if these tests show some problems.

3) No, there is no need.

4) Yes, lymphatic drainage obstruction causes cystic hygroma in early pregnancy.

5) You should do amniocentesis with some expert doctor with full precautions

6) Cystic hygroma is a benign condition, and it is not fatal. It only causes fetal physical deformity and nothing else.

7) If it disappeared on its own, then there is no need to worry about it.

8) In your case, there are no genetic abnormalities when no congenital anomalies were detected. I hope you found it helpful. Regards.

Thank you doctor,

Thank you, doctor, for answering all our questions. Today, we went for our detailed anatomy using second ultrasound. Everything is good except for the below two abnormalities. I have attached the ultrasound report. Kindly go through them in detail and provide your detailed information as well.

1) There is a left choroid plexus that appears mottled. Could you please kindly check the ultrasound report attached with the ultrasound images and confirm with us?

i) What is the reason behind the above abnormalities?

ii) What are the complications and issues faced by the baby?

iii) Do we need to do any further tests or amniocentesis?

iv) Is this related to any genetic disorders or brain issues?

v) Is this related to cystic hygroma?

2) There is a heart having a single left-sided EIF.

i) What would be the reason for the above abnormalities?

ii) What are the complications and issues faced by the baby?

iii) Do we need to do any further tests or amniocentesis?

iv) Is this related to any genetic disorders or heart issues?

v) Is this related to cystic hygroma?

vi) Do the baby have any heart or cardiac issues now or after being born?

3) If the mother has itching in the leg and hand during five to eight weeks (as you mentioned, lymphatic obstruction), will it create cystic hygroma in the baby? Thank you again for answering and helping us during this difficult time.

#

Hi,

Welcome back to icliniq.com.

Thanks for trusting me again. Sorry for the long delay in my response, and it is due to Diwali.

Here are the answers to your questions.

For the left choroid plexus,

1) It is a congenital abnormality, and the cause is unknown.

2) It is generally benign.

3) You should go for amniocentesis.

4) It is generally related to some genetic issues.

5) It could be related to any congenital abnormalities.

For the heart having single left sides EIF,

1) The reason behind the above abnormality is congenital abnormalities.

2) Complications faced by the baby are generally benign.

3) You should go for amniocentesis.

4) It is related to a genetic disorder.

5) There could be a possibility. Kindly go for amniocentesis to rule out any congenital abnormalities. I hope you found it helpful. Sorry for the delay. Regards.


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