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Screening shows baby has clubfoot. No pulmonary vein seen. Spine is normal. I have POF. What are the findings and required treatment?

To who this concern,

On Tuesday, October 8th I had a 2nd trimester screening. On my first trimester screening everything was normal and there were no concern as well as a low chance of T21, 18, and 13.

However in this screening they found that my baby has one clubfoot on the right and he has left axis deviation (heart). The doctor also could not see the pulmonary vein entering the left atrium. Everything else turned out normal:

Amniotic fluid: normal, spine is normal, brain normal, he has no spinal bifida or skin oedema. His face, eyes, and nose is all normal. His lungs are normal and apart from the left axis deviation and the pulmonary vein, the doctor has identify that the baby's heart has a normal outflow tracts and you can clearly see the four chambers working properly. His stomach, kidney, and bladder is all normal.

What my concern is, is the doctor told me there is now a high increase of T21, 18, and13. This frustrate me because i have POF (post ovarian failure) and I was required to use a donor egg (the donor was 27 the same age as me). Before the egg is implanted all donors have to go through that screening. I don't know if the doctor understood that and he didn't go through the whole report. He said that my baby is likely to have problems and to be prepare for death...or to start thinking about terminating the baby (which I am not going to do). I already contacted another doctor and she didn't seem concern and told me the risk is still low for those disorders. But for some reason I am worried. I am just hoping for a second opinion and I don't have another ultrasound till October 28th.

Thank you for listening and best regards
Asked On : Tue, 15 Oct 2013
Answers:  1 Views:  18
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OBGYN 's  Response
Mar 2013
Hello
Thanks for your query.
First trimester screening cannot identify the limb anomalies and cardiac anomalies well.
Cardiac function is best evaluated in the second trimester.
I understand your concern just perfectly.
However, not all syndromes are hereditary.
Some anomalies ( for eg. the cardiac one your baby is having ) are found more commonly in some syndromes, but that is not a necessity.
AM sure the donor report was well screened.
Also, pulmonary stenosis, if confirmed,is life threatening , and you should consider termination.
Please upload the entire ultrasound report to me at -
http://doctor.healthcaremagic.com/doctors/dr-aarti-abraham/64623
Take care.
Answered: Thu, 14 Nov 2013
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