Our baby was born with extreme hydrops (increased fluid around the pregnancy). The obstetrician basically did a quick “Google” search as he had no guidelines for pregnancies for Noonan Syndrome and didn’t find anything that could go wrong but we wondered if there were plans to write any guidelines?

The problem is that hydrops occurs in a lot of different conditions so the problem for the obstetrician is what the underlying cause is. They may look for a number of causes – infections for example – and Noonan Syndrome comes a long way further down the line and sometime doing the test can take some time in getting the results. Certainly, a number of labs will offer the PTFN11 test for Noonan Syndrome if they think that’s a possible diagnosis in the womb. Hydrops is due to lymphatic problems so there have been a number of examples where Noonan Syndrome cases have presented with hydrops. Hopefully there a paper will be produced on this and particularly regarding prognosis and what’s best to do in the prenatal period.