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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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