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Prenatal Diagnosis Of Sickle Cell Disorder: Good Or Bad?

The term 'hemoglobinopathies' refers to a group of congenital blood conditions, of which Sickle Cell Disorder (SCD) and Beta-thalassemia are good examples.

Prenatal Diagnosis (PND) is aimed at detecting the presence of the gene responsible for the condition in the unborn fetus. It determines whether the gene is present in homozygous or heterozygous form, and hence can differentiate between asymptomatic carriers and sufferers of the condition. In the case of Sickle Cell Disorder (SCD), the corresponding genotypes would be AS and SS respectively.

Please see the following link: http://www.blackhealthcare.com/BHC/SickleCell/Diagnosis.asp

I have been a part of a PND team dealing with SCD in Nigeria, and have observed the following:

1. The patients were from all walks of life and different ethno-religious persuasions. In the vast majority of cases, they said that they would terminate the pregnancy if the fetus was found to have the SS genotype. Some of these patients already had 3 or more children suffering from the condtion. In some cases, the patients had lost all but one or two of their children to the condition.

No significant correlation with ethnic origin or religion could be established among those that said they would not terminate the pregnancy. It appeared that those who would keep the pregnancy did so for mainly personal, health and family reasons.

2. We were criticized in certain quarters. Those that levelled the criticism said that by offering PND services, we encouraged people to engage in abortion. Please note that most of these people had not at anytime experienced SCD personally - either through friends or family.

Note also that we did not offer abortion services. According to recognised conventions on prenatal diagnosis, we counselled each patient before accepting to offer them the procedure. During the counselling sessions the patients were informed, among other things, about the procedure. We also offered them support if they decided that they would keep the pregnancy regardless of the test result.

In your own opinion, is prenatal diagnosis good or bad, seeing that it forces the parents to make a choice that they would otherwise not have to make?

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@Milayo Did you end up going to any of the hospitals ? Which one ? Please do share your experience!!! Eagerly waiting!!!!

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Great topic, I really need to do the prenatal test to know the genotype of my baby. Pls how can I get ur contact Mr genial?

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Guess you people talking are doctors. At least Genial.

This is basically an ethical issue. In medicine there are many factors that come into play before taking a particular decision. If SCD is determined in-utero and the mother decided on terminating the pregnancy, I think she should be allowed to take such decision. Do you imagine what agony you have saved a woman who would add another sickler to about 3 she already had. Some of them had died and her in-law (in African setting) are breathing down her neck that she is a witch who killed her own children. Marital, psychological, economic, social problems and all. The problem is almost similar to that faced by some families plagued by some congenital abnormalities such as erythroblastosis fetalis,congenital thrombocytopenic purpura to mention a few. (A woman would actually be reluctant to be discharged home from the hospital because she lost another newly born as she would not want to meet her in-laws with the story)

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I don't think the services shoud be denied them, as long as the technology is available they have a right to know what problems may lay ahead particularly as both parents know they are carriers, my problem is when they come to make a choice of termnating the pregnancy. 1st I think they should not be encouraged to take that path as SS individuals these days can live an almost normal life, our knowledge of SCDx has improved so much and hence the quality of life of SS sufferers has improved (in the west) 2nd; they need appropriate councelling and must be well informed to make their choice but still who protects the poor child?

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Once again you make very good points, Shagari.

We actually had some couples call us to demand that we run sex determining tests for them. In one case, the couple had 6 daughters and wanted a son.

We purposely declined to include the test for the reason you adduced.

But does it mean that couples, especially the women, who have a genuine need should be denied access to the service?

Remember that not all of them choose to terminate the pregnancy, although the majority said they would.

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I understand their plight, but where do you draw the line, what of parents that want boys can they terminate the girls, should we give the right to 'choose' blonde kids blue eyed kids I mean the list goes on. May be there should be some gray areas allowed and not complete open or closed case but its a very thin line that must be walked with care and the upmost respect for the right not only of the parents but even more important, the child. Choose life.

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You're right about that. It is the point of this topic.

You're also right about that. The severity of SS condition is not the same in all cases. In some cases, possibly like one already mentioned on another thread on this site, the sufferers live relatively healthy lives. In other cases, however, it is very severe, and sufferers often do not make it past the first few years of their lives. There is at present no fool-proof way of knowing which case would be more severe, or less.

Good point. I can tell you that a lot of effort is being put into educating young people who are not yet married about the potential risk of marrying a "genetically incompatible" partner. They are encouraged to know their blood genotypes and offered premarital counselling with respect to SCD.

But what about the couples who have been married already? Some of those with whom we came in contact have been married for up to 20 years and more. Some were victims of the proliferation of ill-qualified medical laboratories in the country. I saw certain cases in which the couple took all the necessary steps to avoid genetic incompatibility - took genotype tests, etc. Unfortunately, the medical lab that did the test gave the wrong result and, in one particular case, it took the birth of an SS child to realise that something was not quite right. Needless to say, it also caused other problems.

We were able to counsel this couple, re-test them, and discover that they were both AS, contrary to what they previously believed.

What do you say about such a case? How would you advise them on the choice of partner, seeing that the choice was already made?

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Its a good idea but there are certainly ethical questions to ask, as far as I know being SS is not incompatible to life, what then gives us the right to terminate the pregnancy you see this brings to front the whole abortion rights debate, if it were a dx that is incompatible with life then may be one can make a stronger case for abortion, an SS child in my view has the right to live and thrive.

More should be done in educating AS indivduals not to choose an AS partner

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