Prenatal diagnosis after 20 weeks scan of Down's Syndrome. Continuing with pregnancy. Advice needed.

[realnappiesmum]

Hi ,i am 21 weeks pregnant. Had 20 week scan and number of soft markers found. Had amniocentisis which confirmed our precious little girl has Down's Syndrome. Husband and I are both happy to continue with pregnancy. Very worried though as mild to moderate cystic hygroma present and mild pericardial effusion. Seeing consultant again this week. Compiling list of questions to ask. Need advice from others who have had prenatal diagnosis about what questions to ask and about how pregnancies progressed. Hope this is ok.

Congratulations on your baby girl. Soft markers often vanish without trace (hence why they're called 'soft'). Doctors are scared of them in case they indicate there's a chromosome anomaly. Often they're scared of being sued for not predicting the worst case scenarios too.

I have a ds with Down's Syndrome who is four and was diagnosed shortly after he was born. I would highly recommend getting in contact with your local Down's Syndrome support group. We've often had expectant parents come along for support and find meeting new mums and those with younger children really helpful. Most groups also have a new parent contact who can come to your house if you're not up to the whole group thing just yet.

Don't know if you've looked on the DSA website they also have great info for pre-natal diagnosis and a helpline you can call.

DSA

And huge congratulations on your pregnancy x

Congratulations on your little girl! I have a Ds with ASD, not testable for in pregnancy, - and he is my light!

Congratulations on your pregnancy. It is good that you are compiling a list of questions. Your consultant will give you a plan from here in terms of further ultrasounds to monitor your baby's development. Where this happens depends on the facilities at your hospital. I would ask how frequently they are going to scan you and why, and what investigations will be carried out when your baby girl is born.

It might be possible to speak to a Neonatal Consultant at some point in your pregnancy, perhaps after the next scan, so please also ask to do this (as the obstetrician's expertise extends only until the birth). I would ask them to explain everything slowly so you can write everything down. Or get them to write it down for you. Is there a friend or relative who could accompany you to your appointment, someone to help absorb all the information?

Have you been in contact with ARC? They are a really helpful organization. Also contact your local Down Syndrome association as it is so invaluable to speak to real life people who have been there, done that and start to access the local network of support services in your area.

Hope your appt goes well.

HW
xxxx

Hi thank you for replies. Saw consultant yesterday, he was very good and answered our questions, it was a long list! Had another scan and being referred to cardiologist to check is septal defect and also there is possibility of Tetralogy of Fallot. Will know more in couple of weeks. Scan shows she has grown and consultant is going to monitor this closely as she is still small. Been looking at DSA and will contact local support group. Consultant also referring us to Community pediatrician who works with children with Down's Syndrome and will be able to put us in touch with link families which will be good.

Congratulations! As a mum of 3 adopted DC's with Down's Syndrome. DD1 had Tetralogy of Fallot and a massive AVSD which was repaired when she was nearly 4 she is now 27. Yes she still has cardiac problems and has a pacemaker but went to mainstream school got 2 GSCE's. Is now doing voluntary work in a charity shop and does a bit of dusting for an elderly lady 2x week. She really enjoys life and everybody loves her (proud mum moment)
Good luck please let us know how you get on.

Congratulations

Hi thank you for reply. Your daughter sounds fab. Spoke to gp who said op for ToF are done daily at specialist hospitals so surgeons are very experienced in doing them. Will know more in a couple of weeks after scan.