How do two biotechnological techniques compare in diagnosing Down syndrome? March 18, 2013
Down syndrome, which is also called Trisomy 21, is quite well-known disability, but not many people knows what exactly it is. Down syndrome is the most common chromosome abnormality in humans. There are three types of the cause of down syndrome. First, most commonly, 95 percent is by nondisjunction. This means that cells did not equally divide the genetic information. This leads a sperm or an egg has one more 21 chromosomes. When this sperm or egg combines with the normal sperm or egg, with 23 chromosomes, finally it makes 47 chromosomes, 3 copies of 21 chromosome. This is what people usually calls, Trisomy 21 (2011). 4% of down syndrome occurs by translocation, which happens when 2 chromosomes combined together which seems like 1. By that, cell makes one more extra chromosome to fill 2. There is right number of chromosomes, but actually, there is one more chromosome (2011). Both ways, there are more chromosomes than it has to be. By that, it occurs disorders and structural anomaly in whole range of body where chromosome 21 exists.
Because down syndrome is caused by the disorder of the chromosome, it affects on every part of physical appearance, physical development and medical conditions. They usually have decreased muscle tone at birth, wide hands with short fingers, flatten noses and others, which makes it is quite easy to find out people who have down syndrome. But not only the appearance, they have impulsive behavior, slow learning, eye and hearing problem, and much more. (Zieve, 2012) There is no treatment for down syndrome for now, but down syndrome is detectable from embryos. If they have down syndrome, they can get cures right after they are born, which cannot actually cure the syndrome, but can slow down the symptoms and let them be in the society more easily. And also, parents can decide to continue the pregnancy or stop and if they decided to continue, they can prepare their minds.
General two ways to test embryos have down syndrome or not are called Amniocentesis and CVS, chorionic villus sampling. Amniocentesis is an invasive type of prenatal test that tests a sample of amniotic fluid collected with a long needle (Graham-McWade, 2010). CVS is testing chorionic villus sample by a long and thin tube through the vagina and cervix into the placenta or through a long, thin needle put through the belly into the placenta. (Healthwise, 2010) CVS is for the earlier mothers, in the first trimester, most often between 10th and 12th week. (Healthwise, 2010) On the other hand, amniocentesis is usually scheduled between 15th and 18th week. (Mikio, 2012) Accuracy of CVS and amniocentesis are both more than 99 percent; amniocentesis is about 99.4 percent. (BabyCenter Medical Advisory Board, 2012) For CVS, it took about 7-10 days to get chromosomal analysis, and 2-3 weeks for amniocentesis. CVS costs about 1200 to 1800 dollars(The Gale Group, 2008) and amniocentesis costs about 1500 dollars. (Fertility Clinic Vancouver)
Amniocentesis and CVS are both a test done during pregnancy. Accuracy and cost is about same, 1500 and 1200-1800 dollars, but they are in different time and need different amount of time. CVS is earlier test than amniocentesis, 10th to 12th week for CVS and 15th to 18th week for amniocentesis, and it takes less time than amniocentesis, seven to ten days for CVS and two to three weeks for amniocentesis. Because CVS is available faster than amniocentesis, parents can decide faster to continue or end the pregnancy. And also, because it took less time than amniocentesis, pre-parents have to wait less time with worries than amniocentesis.
In the current society, it is hard to live with down syndrome, both for people who have down syndrome and parents. By CVS and amniocentesis, parents can decide the abortion. This makes the ethical issues about diagnosing down syndrome and abortion. Many people think it is always bad ethically, but it isn’t. When parents cannot afford to take care children with down syndrome, giving birth to babies make parents and babies lives both hard. With CVS, it can catch down syndrome early, so parents can decide their mind easier. If they decided abortion, faster is better and also the guiltiness parents have is less. With amniocentesis, it takes quite a lot of time. Parents will get the result in 18th week at earliest and 22nd-23rd week at latest. It’s already babies are big enough that mothers can feel their movements. At this time, it’s really hard to decide abortion and also not good for mothers health. In the point of view of disagreeing the abortion, amniocentesis reduces the rate of abortion. By the later diagnosis, it can stop abortion and let parents to prepare taking care babies with down syndrome. And also, it is ethically worse when parents to give up taking care of kids after they gave birth and diagnosis can avoid this problem.
CVS and amniocentesis have very different implication in ethical issue. During 7th to 15th week, Vacuum aspiration or suction termination is available in 5-10 minutes, but after that, until 20th week, the process is getting longer and after that, there are surgical two-stage abortion or medically induced abortion. Later, it is longer surgeries and it’s worse to both babies and mothers when they abort. (Abortion - How it is performed, 2012) And after down-syndrome kids are born, as paragraph 2 says, lots of complications happen to kids. It is really hard that they grow properly, as other kids in same age, thinking and learning is much slower, visual impairment and others. Especially, they naturally have weak heart. By that, 56 percent of death among down syndrome is during the post-neonatal period, 27 percent in the first day and normally after 40 years old, death rate of down-syndrome people are much higher than others. (Wetzel, 2011)
Economically, although it costs a lot and it is only burdened to parents, it’s very small compare with the costs need to take care a down-syndrome baby. Not small, but by some of money, parents can decide they have enough money to take care kids or not. This can avoid or make better the economical problems in families with down-syndrome kids and also avoid to give up taking care down-syndrome kids by economical problem. If there’s no way afford kids with down syndrome, even they are born, it is really hard to live on, not only the kids with down syndrome, but whole family and also for the society. And if they decided to give birth, they can prepare for after baby is born. It’s much better than just get a baby with down syndrome without any preparation. It is better to be faster, so CVS is better than amniocentesis because parents can get the result of diagnosis earlier.
By one research, in China, lifetime cost for one down-syndrome person is about 47,000 to 55,000 US dollars. (Chen Y, 2008) This is very substantial to family. And in another research, based on 1988 data, it takes about 410,000 dollars for lifetime of one person with down syndrome. (DiGuisepp) Now, about 30 years later, it’s not as much as 1988 and having better with some more welfare facilities, but still quite big burdens for individuals. If it’s hard to kids survive even they are getting born, it might be better not to start.
It will be opposite with the implications. For CVS, parents might decide the down syndrome easily. If they decide the abortion, of course they would think about it a lot and decided seriously, but some might think easier about abortion because babies are still small and it might not affects to mothers as much as later. By amniocentesis, the result came quite late. By that, if parents really cannot taking care babies with down syndrome, like they have to send babies to orphanage when they give birth, late result makes parents decision hard and give more ethical guilty.
Although the cost of test is minor compare to the cost it needs in taking care of kids who have down syndrome, still it is quite huge to many people. If some can’t afford it, they cannot find their kids have down syndrome or not. Then, they cannot just decide abortion without knowing, so they surely give birth to kids. If they have kids with down syndrome, there is no way to them to take care. They didn’t have money for even diagnosis. Both, CVS and amniocentesis should be cheaper so that any pregnant women can have the diagnosis and decide. Or, there should be some kind of insurance support of CVS or amniocentesis.
References
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