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We all know that nature can be cruel at times. Even when something as wonderful as the birth of a new baby is involved, nature — in the form of genetic fate — can dole out unexpected and not always favorable challenges. And now, as technology makes genetic screening of fetuses easier than in the past, the big question more and more parents-to-be will likely be facing is, do you actively want to know beforehand if something may not be quite right with the little one you’re expecting.
Here in Japan, some early data on a new prenatal screening procedure has recently been announced, providing us with some sobering food for thought, and we thought we’d share with you a summary of the reports.
When you hear about prenatal tests, amniocentesis may be the one that comes to mind. However, there is now a new kind of screening procedure which can be done more easily, albeit on a more limited basis, for three specific chromosomal disorders in the fetus. It is called non-invasive prenatal (genetic) testing or NIPT for short, and it can be done simply by drawing a blood sample from the mother during early pregnancy, usually at around 10 weeks. The procedure is designed to test for increased risks of Down Syndrome (trisomy 21), trisomy 18 and trisomy 13, all conditions in which there are three copies of the affected chromosome instead of the usual two.
Although NIPT can be a very useful tool, it does not provide a confirmed diagnosis and is not meant to replace established diagnostic tests like amniocentesis or chorionic villus sampling (CVS). Instead, NIPT is meant to serve as a screening process to identify fetuses with an increased chance of carrying the three genetic conditions, after which amniocentesis or CVS can be conducted to confirm the diagnosis. It does, however, have the advantage of being quite accurate, with a 98-99% detection rate for Down Syndrome and a somewhat lower accuracy for the other two disorders, while being non-invasive and posing no risk to the fetus, since it only involves taking some blood from the mother.
In Japan, the test has been available since April of this year on a clinical trial basis at approximately 30 medical institutions approved by the Japanese Association of Medical Sciences and at this time is conducted only in what are considered high-risk cases meeting certain criteria, such as the mother being over 35 years old when giving birth, past history of a child with one of the three genetic disorders or other factors that can increase the chance of the conditions occurring in the fetus, such as abnormal serum and/or ultrasound findings or incidence of chromosomal translocation in either parent.
Although NIPT is an expensive procedure, costing about 200,000 yen in Japan, medical groups reported that there were about 3,500 pregnant women who underwent the testing during the first six months it became available in the country. Of these women, 67 tested positive with results indicating a high possibility of the fetus having one of the chromosomal disorders. After further testing, actual chromosomal abnormalities were confirmed in the fetus of 56 of the women.
What did these women decide to do? While two women unfortunately miscarried and one had not been able to make up her mind at the time the information was collected, the remaining 53 women decided to have their pregnancy terminated. We can only imagine how difficult that decision must have been. There was apparently also one woman who after receiving a positive NIPT result, went on to have an abortion without getting the finding confirmed with a more definitive test such as amniocentesis.
While the decision is obviously a highly private matter and completely up to the couple, when asked the reason for terminating the pregnancy, 37% of the women who had an abortion said that it was because the prognosis for the baby’s condition was considered poor. Another 21% of the women said that they didn’t feel confident they would be able to raise the child, while there was also an equal 21% of the women who said the condition made them feel too insecure about the future. Whatever their reasons, we don’t think anyone can criticize the couples for making their decision one way or another.
It should be kept in mind that NIPT is not a perfect test and as already mentioned, should be considered only as a preliminary screening process. In this particular group of women, there were six false positives which turned out to be negative with further testing and also one false negative where a disorder was discovered later. But used in conjunction with other diagnostic tests, it is still a highly effective tool to screen for potential high-risk pregnancies.
That being said and all the technology aside, would you want to know about possible chromosome abnormalities in your unborn child? Once you know, you have to make a decision, and it could be a terribly painful one. Is not knowing better than having to make that kind of decision? Or would you rather know and have a choice? We guess these are questions you simply can’t answer until you’re actually in that situation. Now, while that is something we hope certainly never happens, the report did provide us with a chance to do some serious soul-searching and also be grateful for our blessings in life — and in our opinion, any opportunity to count our blessings is always precious. So thank you, dear reader, for sharing that experience with us!
Sources: NHK (Japanese) and Mount Sinai Hospital website
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18 Comments
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nath
I'd want the test, and if we had Down's I'd choose to not continue with the pregnancy. My wife is of the same opinion.
Maria
Based on anecdotal evidence on this thread alone, it's clear that doctors can be wrong, as can these tests. inform yourself a bit more,
It's also clear, just by paying attention to the world we live in, that people with Downs Syndrome can live not only good lives, but exceptional ones. 53 women aborted their potentially chromosonally imperfect foetuses, and that decision was entirely theirs to make. If they had all carried to term, that would also have been their decision. I hope this never becomes a country in which people try to control our pay packets, our choices in life, and our bodies in the way other posters have suggested.
Otherwise Laguna's life would be very different.
Information on Ms Noda's child: http://www.japantimes.co.jp/news/2012/03/23/news/lawmaker-has-no-regrets-about-giving-birth-at-50/#.Up6PN8QW2qs
Also her recent views on abortion : http://japandailypress.com/politician-proposes-banning-abortion-to-improve-japans-birthrate-0224411/
She is pro-life, ie anti-abortion, it seems. I can't imagine this proposal of hers being taken up by the Japanese govt. though - the medical profession would never allow it, far too lucrative...
Tessa
If I'm living off public funds, and yet somehow managing to fork out more than $62,000 swanning around the world buying harvested eggs to fulfill my geriatric fantasies of giving birth despite extremely high risk to myself and the baby, then yes I would hope that the government would intervene on the grounds that I've lost my mind. My point is, that we need to strike a balance between what we want, and what's really right for ourselves and the world that we live in. Sometimes, the two are incompatible. What would you have advised the Octomom? "Go ahead and do it?"
Maria
So you actually think the paltry few yen that are your contribution to a politician's salary, give you some say over her family life?
I hope whoever pays the salary that feeds, houses and clothes you and your family, puts you right on that stupid comment of yours, when they come round your house on their weekly visit to make sure you're spending their money in a way they deem appropriate.
Moderator
Readers, no more bickering. Please focus your comments on what is in the story and not at each other.
slumdog
I wasn't aware that paying someone's salary entitled you to criticize what they do legally in their private lives.
Tessa
Who do you think pays her salary?
Maria
Tessa.
What you would have done if you had known pre-birth that your child would suffer, is you and your partner's decision, and it's nobody's right to criticise that. The same goes for Ms Noda.
I shall not comment further except to ask when the child had the stroke. Do you know?
Frungy
In most cases Down Syndrome isn't inherited, it is a random mutation in chromosome 21 during cell division. There are some factors you can control, for example mothers over 44 have a 1 in 30 chance of having a Down syndrome baby, while the chance in younger mothers is less than 1 in 1000.
Only about 4% of kids inherit down syndrome, and most of those are from the mother (the risk if the father is a carrier is only about 3%, while the risk if the mother is a carrier is between 10 and 15%).
Tessa
I agree strongly with all of the above comments, especially the ones about informed choices. Unfortunately, despite the testing, people are still going to make decisions that may seem utterly bewildering to others (such as in the case of Frungy's friends).
For example, I sometimes wonder about the little boy that politician Seiko Noda gave birth to a few years back through a very complicated form of IVF, at the age of 50. According to one source, the baby boy "has not been able to leave the hospital to the present time and has undergone nine operations so far. Furthermore, he is paralyzed on his right side which was caused by a stroke; he cannot make any sounds due to a tracheotomy; he is not able to eat through his mouth due to the fact that the connection between his esophagus and stomach was missing at birth. He now rehabilitates from surgery to reconnect them."
Why, oh why, would any educated woman, with choices, deliberately bring into the world a child who was only destined to suffer from infancy onwards? It's cruel, and selfish, and I cannot condone it.
slumdog
This. An informed individual makes informed choices.
Laguna
When my wife was pregnant with our second child, our pediatrician informed us that amniocentesis results indicated a not negligible possibility that what would be our daughter would be born with down syndrome. My wife and I discussed this over lunch for about 30 seconds and vehemently agreed to take the chance. Fortunately, my daughter has developed relatively normally and is now a leader of her high school cheer leading team and the main drain on my finances.
That was us, then. I am glad that he told us; I am glad that we did what we did. All would-be parents should be presented with data as accurate as possible and act in what they determine to be the best interests of all concerned.
USNinJapan2
Well said Frungy. I agree with you wholeheartedly.
Frungy
So many issues in this article:
200 000yen for this test? It is available in some countries for as little as $20!!! There is simply no excuse for this insanely high cost.
Before getting married I'd recommend any couple to go for genetic screeening. It can save a lot of heartache if you know before getting married that your children have a high risk of certain genetic conditions, and there are many options, such as adoption, donated sperm or ova, etc.
I had a friend who recently gave birth to a child with severe Down Syndrome. The doctor described it as the worst case he had ever seen when he detected it at 4 months into the pregnancy. My friend is extremely religious and believes that it is a test from God. I've provided what support and help I can, suggested the latest therapies (there has been some success with hypobaric treatements and there are some gene therapies undergoing trials, etc.), however there has been nothing but heartache. The child suffers from regular seizures (a common associated condition), has had to undergo surgery twice to correct life-threatening problems, and even after everything that modern medicine can do will probably still die before her 21st birthday.With all due respect to the religious, but I do not think that it was God's intention to put anyone through that sort of suffering. God gave the doctors the brains to figure out the test, and they had an option to abort. It would have saved everyone a lot of pain. Placing the blame on God for all the child's pain is unfair and unkind. That child lives in constant pain. No-one should bring a child into this world knowing that they're going to suffer that kind of pain for their whole lives and then die early.
I can't say this to my friend, they made their decision and now all I can do is help and support them as best I can, but I feel that abortion would have been a wiser, kinder choice. I also place significant blame on my friend for not going for genetic counseling before getting married (as I advised him to do). It is such a cheap and sensible precaution.
Tessa
I absolutely would want to know, and I would act accordingly depending on the results. One of my cousins was born with multiple handicaps, and the toll of taking care of her nearly destroyed the family: financially, emotionally, physically, in every way you can imagine. There's no way I'd be willing to inflict that on myself, my partner, or society.
Maria
Yes I would. If people like to know so that they can decorate their nursery and choose their favoured cake colouring, then certainly the information about ill health should be vital.