Thank you for referring your patient for a Maternal Fetal Medicine consultation. She came today for an ultrasound and was found to have a fetus with multiple suspected anomalies.
We reviewed the findings of spine, kidney, heart and abdominal/pelvic wall defects. We discussed these findings may be associated with an underlying aneuploidy or genetic syndrome. While additional imaging may clarify the extent and involvement of anomalies seen today, we reviewed that multiple findings would likely require surgical management in the event of continuing pregnancy and delivery. In cases where an underlying genetic syndrome exists, the prognosis and even candidacy for surgical repair, tends to be poorer.
With respect to the cystic lesion of the spine, we discussed the broad differential and the increased likelihood for there to be impaired neurodevelopmental outcomes, including impaired physical mobility and cognitive delays. We discussed the options of additional imaging with MRI, fetal echocardiogram, and follow up ultrasound, the option of formal genetic counseling and genetic testing (including amniocentesis), and the option of termination of pregnancy without additional testing.
I still don’t have a diagnosis and have an MRI and echocardiogram scheduled. I am just lost right now and would like to know if any of you mommas have gone through something similar.
Re: Im 28 weeks the doctors discussed this with me after reviewing ultrasound