08 July 2011

Detecting Trisomy 18

This article is way too high-brow for me. But in a nutshell, it seems that someone's found a way to detect Trisomy 13 and 18 in utero to a high 98 per cent certainty. 


With more cases being seen today ( I understand that a Singapore doctor saw 5 Trisomy 18 cases in the past 1 year), and given that the current practice, at least in the US, is moving towards with-holding life support from very sick babies, I hope these tests get made mandatory soon and offered to mothers from age 30, not age 35.

I was 32 when I had Vera. A Nuchal Translucency Test show "low risk" of Trisomy 18. When I asked about it, the reason was that it was a "false negative". Well, we've got to get better, more accurate tests then!

7 comments:

Kiley said...

I was 24 when I had Anabelle. I went through every testing imaginable just short of having an amnio. Which I am thankful for everyday I didn't. Though it wasn't concluded that Anabelle had t18 until after she was born. I did realize that doctors here did not want you and practically begged you to end the pregnancy and bot give any form of life saving care to babies born with this condition. Because we didn't know if it was truly t18 or not after she was delivered they had to treat her like any other baby. My fight for her is what gave me my time with her. Doctors are far to quick to end a life just because of statistics. I wish parents knew more about this after the diagnosis rather then going on what a doctor tells them. You never know how any child will do once they are born.

Anonymous said...

hi May, in my case my oscar test showed me low probability of chromosome defects but the 5th mth detail scan showed otherwise and increase my chance to have a down syndrome baby to 1/3 chance - 33%. I was 33. i rem i kept holding onto the oscar results telling the gynae and fetal specialist they are wrong. They told me the oscar test is a test of probability. (though i hated maths and aint that good in it).. i realised it means w the word probability it is not 100%. The doctors told me only an amniocentesis will be accurate.

funny thing is my boy cleared the amnio but when born has so much health prob he cld be having another syndrome. I am still thinking whether to test him for it. honestly i am scared....it is one of the rare disorders 1 in 4000 (another funny thing is it is higher probability (yes that word again) than his heart condition which is 1 in 8000).

Been reading up like crazy on google and that made me more confused too...

Yin May said...

Dear Anonymous,

I always encourage parents to test. Knowledge is power. If you know the syndrome, you will get better at managing it. Like they say, "know thy enemy". Do email me if you wanna chat.

Anonymous said...

If you are the mind that you would not abort the pregnancy regardless of test results and would want your child to receive the same medical care as a child without a genetic condition, I would assert that prenatal genetic testing is potentially dangerous to your child.

Without a confirmed diagnosis, doctors cannot withhold care such as a c-section if baby is in distress or resuscitation and corresponding NICU care after birth, before genetic test results are done.

The International Resuscitation guidelines recommend no newborn resuscitation for children who have a confirmed dx for trisomy 13 and similar disorders.

It is true that "knowledge is power" but that goes both ways.

Anonymous said...

thanks May. I will email u soon...

To the other anonymous - does that work in the public hospitals only? I believe if it is the private hospital, parents can demand that the child be saved.

Cos in my son's case, i see that his surgeon does alot of heart operations even on babies born w trisomy 21 and i am very encouraged that parents still give their child a chance for the best medical help.

Anonymous said...

Response to Anonymous.

There is an INTERNATIONAL guideline that states that newborns with trisomy 13 and 18 should not be resuscitated. The American Heart Association adopted this guideline. They removed trisomy 18 specifically by name and just referred to trisomy 13 and similar chromosomal abnormalities.

An international standard like this serves a doctor well in court, should it be necessary. There is an increasing number of OB's who will refuse to do c-sections if there is a confirmed trisomy 13/18 dx because they won't resuscitate anyway.

There are some pretty sad stories out there as a result of guidelines like this. Personally, I would tell anyone that unless you would abort, stay far away from genetic testing. If your baby has a condition that required fetal surgery or special care immediately after birth, chances are that u/s will pick it up.

As for your assumption that a hospital that does tri 21 surgery will surely do tri 13/18 surgery, I suggest you think again. There is a law that specifically protects kids with Trisomy 21. Please assume nothing. Call SOFT or another trisomy advocacy group and ask if they know about your hospital and whether it is trisomy-friendly. Many people need to go through many doctors before they are successful. One woman had to fly half-way across America for cardiac surgery for her child. Having written all that, I still think it is important to state that not all kids with tris 13/18 are best served by surgery. Every child is different. Research shows that even kids who receive full intervention might die young.

Anonymous said...

Re: refusal to resuscitate with prenatal dx.
It has been my observation that doctors are careful never to say "no". There is a lot of biased counseling, playing upon guilt and suffering. If the child might need a certain test of treatment, it simply is not offered or mentioned. Many parents accept that the condition is lethal and it becomes a self-fulfilling prophecy. Thus a parent has to know what to demand. How many parents are smart enough to demand a test for thrombocytopenia or hypoglycemia and know the treatment levels that require intervention as just one example. I know many stories in which parents are told "sure, we'll do surgery, but for now we are just taking a conservative approach and monitoring." Before you know it, it is too late. When there is no prenatal dx there is at least a few days in which the newborn with tri 13/18 is treated like any other child and that might just make the difference.