Ashley is a 26yo, G4 P2012, who is currently 35 weeks 3 days as dated by an 8-week ultrasound. She is relatively healthy. She has 2 prior cesarean deliveries and is planning a repeat. She declined any aneuploidy testing. She had a recent scan for growth and there was concern for non-visualization of the cavum septum pellucidum. She was referred for further consultation. Of note, the CSP was called normal at the time of the anatomy scan at 21 weeks.
On ultrasound, there is a live fetus in cephalic presentation. Fetal biometry is consistent with dates. Measurements are fairly symmetrical. A detailed anatomic survey noted suspected agenesis of the corpus callosum with absence of the CSP and colpocephaly of the anterior horns. The ventricles …show more content…
This is generally a diagnosis that is made more accurately postnatally. I discussed the option of an MRI but since she is already 35 weeks I do not feel that this would be high yield. Because she had not completed any aneuploidy screening, I did complete MaterniT GENOME testing for a full detailed evaluation. I would recommend a neonatal evaluation prior to leaving the hospital so we can inform the pediatricians if necessary. I informed Ashley and her family that agenesis can be seen in normal people, especially when found in isolation. At this time, I think it is likely isolated; however, it is quite late in pregnancy to make a diagnosis and rule-out all other abnormalities. We discussed outcomes including normal variant to severe developmental delay. There is also the possibility of seizures and hypotonia. No matter what, she will need to inform the pediatricians so that development can be watched over the years. We also noted an occasional PAC on today’s images. I advised that she decrease her caffeine and chocolate. I have not scheduled her to follow-up in our office but we would be happy to see her if you desire. I would continue to see her through your office with ultrasounds and listen to Doptones for at least one minute to assure PAC’s do not turn into something significant. Finally, she did have a borderline increased BP today. Initially, it was 140/83 but repeat was
On ultrasound, there is a live fetus in cephalic presentation. Fetal biometry is consistent with dates. Measurements are fairly symmetrical. A detailed anatomic survey noted suspected agenesis of the corpus callosum with absence of the CSP and colpocephaly of the anterior horns. The ventricles …show more content…
This is generally a diagnosis that is made more accurately postnatally. I discussed the option of an MRI but since she is already 35 weeks I do not feel that this would be high yield. Because she had not completed any aneuploidy screening, I did complete MaterniT GENOME testing for a full detailed evaluation. I would recommend a neonatal evaluation prior to leaving the hospital so we can inform the pediatricians if necessary. I informed Ashley and her family that agenesis can be seen in normal people, especially when found in isolation. At this time, I think it is likely isolated; however, it is quite late in pregnancy to make a diagnosis and rule-out all other abnormalities. We discussed outcomes including normal variant to severe developmental delay. There is also the possibility of seizures and hypotonia. No matter what, she will need to inform the pediatricians so that development can be watched over the years. We also noted an occasional PAC on today’s images. I advised that she decrease her caffeine and chocolate. I have not scheduled her to follow-up in our office but we would be happy to see her if you desire. I would continue to see her through your office with ultrasounds and listen to Doptones for at least one minute to assure PAC’s do not turn into something significant. Finally, she did have a borderline increased BP today. Initially, it was 140/83 but repeat was