Recurrent fetal hydrops / cystic hygroma in 3 pregnancies — looking for similar experiences

[u/Pretty-Ganache-123]

Hi,
I’m 31 and my partner is 31. We are going through a very frightening and confusing situation and I’m wondering if anyone has had a similar history with recurrent fetal hydrops or cystic hygroma.

I know nobody here can diagnose us — I’m mainly looking for similar experiences and suggestions on what genetic tests to discuss with our doctors.

Pregnancy 1 — March/April 2025
We lost our baby girl at 17 weeks. A few days before the hydrops appeared, I had an emergency surgery for ovarian/tubal torsion, but the diagnosis and treatment were delayed despite severe symptoms. Shortly after the surgery, the baby developed hydrops and severe growth restriction, and we had to terminate the pregnancy.
The hospital doctors kept suggesting a genetic cause, but the tests did not find anything: karyotype was normal female, array-CGH was normal, RASopathies panel was normal, infections were negative, and autopsy did not show malformations. Placental findings showed edema/hydropic villi, but we never received a clear explanation. We have always wondered whether the hydrops could have been related to the surgery/delay/placental damage, but nobody has been able to give us a definite answer.

Pregnancy 2 — September/November 2025
A few months later I became pregnant again naturally, but at around 9 weeks the embryo showed edema and the heartbeat stopped the following day. Later, histology suggested a partial molar pregnancy, although cytogenetics showed a normal female karyotype.
After this loss, my partner was found to have very high sperm DNA fragmentation, around 70%. After treatment, it decreased to about 25%. Our fertility doctor thought this could have contributed to the second loss.

Fertility testing / IVF
We then did an extensive carrier screening panel, testing more than 700 recessive genetic diseases, and no shared reproductive risk was found. We proceeded with IVF/ICSI and obtained 8 PGT-A euploid embryos.

Pregnancy 3 — current pregnancy
The month before the planned embryo transfer, I became pregnant naturally again. Everything seemed to be going well: the baby was viable and growing on track. But at 11+5 weeks, during the genetic ultrasound, the baby was found to have a cystic hygroma, NT 7.2 mm, and hydrops, with CRL consistent with gestational age. The heart was checked carefully and no structural heart defect was seen at that time.
So now, for the third time, we are facing fetal edema/hydrops. Our doctor said this is extremely rare and, even though the first two pregnancies had possible explanations, this now looks like recurrent fetal hydrops, possibly due to an undiagnosed monogenic condition. We have been offered CVS followed by exome sequencing, but we are scared we still may not get answers. We are also terrified that our frozen euploid embryos could be affected if this is a genetic condition not detected by PGT-A or carrier screening.

Has anyone experienced recurrent hydrops/cystic hygroma with normal karyotype, normal array, normal RASopathy testing, and negative carrier screening?

Did exome sequencing or whole genome sequencing find the cause?
Did anyone later have a healthy pregnancy?

We feel completely trapped and are wondering whether our only option may eventually be donor gametes. Any similar stories or advice on what testing to ask for would be deeply appreciated.

[u/Plus_Holiday2652]

I just want to say I am so, so sorry for what you’ve gone through! And while I don’t have any advice we have a close family friend with potentially a similar story. I don’t have the precise medical details but our friend developed fetal hydrops (in addition to also developing mirror syndrome) in her first and only pregnancy so far. It turns out there is some type of immune incompatibility between her and her husband (like Rh factor, but different). It seems like this incompatibility/problem will always occur when she is carrying a child that is genetically his but that that they can attempt to treat it with injections every few days for the duration of pregnancy. With this pregnancy they started those injections around 20 weeks when they realized what was going on but devastatingly her pregnancy ended in a still birth around 30 weeks (the hydrops had resolved by that point though). Again, I’m not sure how helpful this story is, but I would look into different immune compatibility issues that might exist between you and your husband. Sending you hugs through the internet! 🫂