Six months ago I had a baby born prematurely and she died 3 days after birth. She weighed 800 grams and had severe chromosomal abnormalities. I developed polyhydromnios at 24 weeks of pregnancy, which at the time was attributed to esophageal atresia. Otherwise there was no indication of any problems prior, through ultrasound.
As we were overseas, we were unable to have an autopsy performed on the baby. The neonatal surgeons flown in to assist us indicated that she did not have an esophagus as well as many other abnormalities. The term they used was that she was 'dysmorphic'.
The closest syndrome that I have found on the internet that explains what may have happened is Edwards Syndrome as the baby had similar symptoms.
I am presently living in Canada and waiting for an appointment with a genetics counselor, but this could take months, as there is a shortage of medical care where I am living.
My gynecologist in Asia indicated that there was no need to wait to try again for a second child and that this abnormality was not related to either my husband or myself. My husband feels differently and would like us to go through the genetics counseling.
Could you please advise me of your understanding of what may have happened, the causes, chances of recurrence, etc? Could you recommend any of your papers or other studies that I could read to educate myself further on this condition?
It is a very sad experience to proceed through a pregnancy for 32 weeks only to lose the child a few days after birth. You write that she had severe chromosome defects, but it appears they did not tell you the precise diagnosis.
The features are consistent with either an extra chromosome 13 or an extra chromosome 18 (respectively called trisomy 13 or trisomy 18 - also called Edwards Syndrome). The risk of recurrence for either of these conditions is mostly in the 1% or less category. I am assuming that this was a chromosome abnormality, but cannot advise precisely in the absence of a definitive diagnosis.
Genetic counseling is wise and appropriate as would be the recommendation for an amniocentesis in every future pregnancy. You may have more information to share with the clinical geneticist who may recommend a study of the chromosomes of your husband and yourself.