Yao Sun, MD, PhD

Hi
At 20 weeks our son was diagnosed with fetal hydrops and at 28 weeks i went into labour and lost him.  The pathology findings were as follows:

Hydrops Fetalis with ascites and hydrothorax
Severe hypoplasia of right and left kidneys
Severe hypoplasia of right and left lungs with atelectasis
bilateral equino-varus
high-arched palate
short bridge of nose
fused eyelids, bilateral (ankyloblepharon)
cystic hygroma of neck
deformities of digits of both hands
partial descent of testes (consistent with gestational age)
Large thyroid
cerebral cortical congestion
prominent cephalohematoma
dysplastic ears.

Placenta:  Immature placenta with markedly swollen villi. No malignancy.

Blood cytogenetics report:  46,XY  no abnormality detected.

They also tested for Turner Syndrome and the trisomies all negative, however, they didn't give me any answers not even what caused the hydrops.  My husband and I are third cousins and I really want to get pregnant again but am now scared to death that this may be genetic and happen again, what are the chances?  Please, please help me ... I'm so scared!

[Yao Sun, MD, PhD]

I'm sorry to hear of your loss.  If you haven't already done so, you should get a referral to a Genetic Counselor.  They are specialists in genetic diseases, and have the knowledge and skills to give you the best assessment of the risk involved with another pregnancy.  They may also consult with a Pediatric Geneticist to see if they have thoughts about possible genetic diseases that may have caused all the findings for your son.  I am not familiar with your son's pattern of pathology findings and cannot name a disease/syndrome that may have caused the hydrops.  The Genetic Counselor will provide you with the best possible risk assessment.