Downs syndrome/Cleft palate

castle96

Hi. Sons wife had 20 week scan and cleft palate is diagnosed. They are natrually worried. The Q of Downs has been raised (by them or Dr, not sure). From what I can research, cleft palate is a POSSIBLE symptom of Downs, it is not an automatic indicator of it. ? True/false. I thought there was a DEFINATE test for Downs ? Confused and worried. A shame for them all. Any knowledge/experience out there please.....

sukysue

Aw bless you all ! I can only say that I am a childrens nurse working on the community and have come across children who have this and come under our care for enteral feeding. This is when the child needs naso gastric feeding as they cannot feed properly. I have nursed about four over the years so I have seen how the treatment has developed. I can honestly tell you that if the child has cleft palate and lip then the surgery that is done today is so good. You sometimes cannot even tell the lip has been done I am not exaggerating. Anyway take heart and try to comfort the parents, these children have been a privilege for me to nurse they have been so brave and happy during treatment, to see them after surgery is wonderful. It is a shock for them I know but all four of these children have not been Downs or indeed have any chromosomal abnormality at all. Good luck and I hope the baby is otherwise well, you will not feel any different towards this baby than if they didn't have it in fact I think it makes one more protective as your heart goes out to them and you are desperate to make things better and to help. I hope this has helped you it is really early days yet so take a deep breath and then find out everything you can from ppl who have been in this situation they are the best ppl to speak to . Good luck to all of you. Sorry didn't realise this was a cleft palate not a lip but my sentiments are the same.

castle96

thanks for that sue, yes, it is early days. Have yet to talk to son (only had an email), so wanted to get some facts first.

DO 'they' test for Downs and IS it conclusive ?
IS cleft an 'indication' of Downs ?

kurgon

castle96 wrote: »

thanks for that sue, yes, it is early days. Have yet to talk to son (only had an email), so wanted to get some facts first.

DO 'they' test for Downs and IS it conclusive ?
IS cleft an 'indication' of Downs ?

There is a screening test for Down's but it is NOT conclusive. A cleft palate can be present in Downs but does not indicate it. A cleft palate can be an iosolated presentation but can also be present in many other conditions. There are also different degrees of cleft palate. Tell them to tlak to the midwife as mother's age, family hisotry etc will also be important.

sukysue

As far as I remember there is the Nuchal fold test done at about 11 /14 weeks where they can scan the baby to see if their neck is 'normal'. If their neck has this fluid then it is indicative of Downs or other neurological diseases. The test for Downs and neural tube defects is the Alphafetoprotein Test where they test at about 16 weeks the mums blood for the presence of the protein and this is all calculated with the weight of the mum I have no idea how they do it! There is also the CVS test done in the first trimester where they take a sample of villus to test for a range of diseases and syndromes. There is also the amniocentesis test done between 15 - 20 weeks but both these tests are very invasive and may cause the baby to miscarry. I think a 1 in 100 chance and I do know of 2 people who have lost their baby after having this test. The baby in both cases had nothing wrong with them. There are false positives with these tests I'm afraid. The incidence of cleft palate in Downs vary the best piece of research I could find suggested that Of 389 patients with Down's syndrome, 18 exhibited bifid (with a fork or split in it) uvula (4.63%) and 3 exhibited submucous cleft palate (0.77%). HTH and good luck to you all . I am sure your grandchild will be beautiful and loved no matter what.

flora48

Hi castle96, just couldn't read and run. I know just how you feel, my 3 week old grandaughter has a cleft lip, also diagnosed at 20 weeks. She had 4D scan the following week, which in her case was very accurate, followed quickly by visits from the cleft team. My daughter had monthly growth scans including measurement of the long bones which give an indiction of Downs if measuring short. Yesterday the little babe had her first meeting with the surgeon. We just adore her and see a beautiful baby.

merlin68

My DD has just completed 5 operations for a cleft palette. She has Di George Syndrome. There are lots of conditions that cause a cleft palette. Your best asking for a fish test, that looks at all of the chromosomes. She had her surgery done at Broomfield hospital in Essex. They were fantastic. Dd was tube fed until she was 2. She is now 12. Her last op in December involved taking a nerve out of her leg and transplanting it into her face. All they need to do now is close her hole in her ear up as she has perforated ear drums due to glue ear. Which they can get with a cleft. She is the the most loving child ever. She goes to a special school as she has learning diffficulties as well.

mitchyjules

My 4yr old son was born with a cleft palatte. You cannot see a cleft pallate in the scans ( i had many scans including 2 of the 3D scans by the consultants and was never picked up)- but a cleft lip you can see. My friends daughter had the full cleft lip and pallatte which was picked up at her scan. Her daughter has had to have many ops over the years - but never had any downs or anything.
My son had a strange deformity of his ribcage, but no downs. In fact - his speech therapist has suggested we have his IQ checked as he appears very intelligent!
The downs test is totally seperate and you're given a level of risk depending on the results of the NT scan at 13 weeks, or blood tests after.

screamer

My nephew has a cleft palate and others are right to say that it cannot be seen on a scan. I was always led to believe that an Amniocentesis would show whether a child had Downs or not, and that test is NOT risk-free by any means. I wouldn't say don't do it though, I don't know the situation.

Feeding my nephew was a joy because he was always asleep, but unfortunately there are other problems. My nephew has Pierre-Robin sequence therefore only has the cleft palate but that's led to problems with his hearing somehow. He has to be syringed quite often (but we think problems with hearing is a genetic thing seeing as though at least 3 of our siblings are either totally or partially deaf). My sister was also determined to have as little help as possible so used to put the nasal tube in herself once the little 'un started pulling it out. I think it affects the parents more than the babies. My nephew had to have an Apnoea monitor on 24/7 and when he had his first operation, splints on his arms so he wouldn't suck his thumb. We were told to wean him earlier than most babies, keep infection at bay because these babies are more susceptible to complications if they get so much as a cold and of course couldnt give all the kisses and cuddles we wanted because of risk of infection.

He's had 2 operations now and might have to have a third. As a child grows so does it's mouth but the "fake" palate stays the same size, therefore needs to be replaced. My sister received DLA for the first year of his life, plus other benefits that weren't available to mothers of normal babies (you'd all be disgusted if I told you exactly what she received just because she had a baby with a cleft palate.)

If the baby is wanted, and loved, the cleft palate is of no consequence. Unfortunately, my nephew does have other problems now but it isn't known if they are anything to do with his cleft palate (ADHD, so I very much doubt it) Let's just say he eats like a pig and always has done and as long as a baby with a cleft palate eats OK, I don't think there's any need to worry. Downs I have no knowledge about so cannot offer advice on that. I'm sorry that your son and his wife, and of course yourself, are experiencing these anxieties.

ETA, if anything I have said here is wrong, please feel free to correct me or get my post removed. I only know about my nephew's individual case. Cleft palate or not, I love that little lad to bits and not one member of the family would be without him. Also, he was born a healthy weight, no worries about being premature, and my sister experienced no problems during pregnancy apart from dizziness during her 3rd trimester.

mitchyjules

screamer wrote: »

My nephew has a cleft palate and others are right to say that it cannot be seen on a scan. I was always led to believe that an Amniocentesis would show whether a child had Downs or not, and that test is NOT risk-free by any means. I wouldn't say don't do it though, I don't know the situation.

Feeding my nephew was a joy because he was always asleep, but unfortunately there are other problems. My nephew has Pierre-Robin sequence therefore only has the cleft palate but that's led to problems with his hearing somehow. He has to be syringed quite often (but we think problems with hearing is a genetic thing seeing as though at least 3 of our siblings are either totally or partially deaf). My sister was also determined to have as little help as possible so used to put the nasal tube in herself once the little 'un started pulling it out. I think it affects the parents more than the babies. My nephew had to have an Apnoea monitor on 24/7 and when he had his first operation, splints on his arms so he wouldn't suck his thumb. We were told to wean him earlier than most babies, keep infection at bay because these babies are more susceptible to complications if they get so much as a cold and of course couldnt give all the kisses and cuddles we wanted because of risk of infection.

He's had 2 operations now and might have to have a third. As a child grows so does it's mouth but the "fake" palate stays the same size, therefore needs to be replaced. My sister received DLA for the first year of his life, plus other benefits that aren't available to mothers of normal babies (you'd all be disgusted if I told you exactly what she received just because she had a baby with a cleft palate.)

If the baby is wanted, and loved, the cleft palate is of no consequence. Unfortunately, my nephew does have other problems now but it isn't known if they are anything to do with his cleft palate (ADHD, so I very much doubt it) Let's just say he eats like a pig and always has done and as long as a baby with a cleft palate eats OK, I don't think there's any need to worry. Downs I have no knowledge about so cannot offer advice on that. I'm sorry that your son and his wife, and of course yourself, are experiencing these anxieties.

ETA, if anything I have said here is wrong, please feel free to correct me or get my post removed. I only know about my nephew's individual case. Cleft palate or not, I love that little lad to bits and not one member of the family would be without him. Also, he was born a healthy weight, no worries about being premature, and my sister experienced no problems during pregnancy apart from dizziness during her 3rd trimester.

I'm sorry to hear the problems your nephew's had. I'd imagine he gets the DLA due to the Pierre Robin rather than just the cleft palate.
Children born with clefts are also more prone to glue ear and tonsillitis. My son failed his first 2 newborn hearing tests, but passed the one at the hospital. Every so often, he would go deaf when he had a bout of glue ear. On top of that he also suffered terribly with his throat. So last year he had grommets fitted to drain the gunk from his ears, and a tonsillectomy.

merlin68

Why is it disgusting that your nephew gets extra money. It is to pay for extra expenses. We spend a fortune going to hospital appoinments etc. That is what the money is for.