Do I need to newborn screening to detect birth defects?

June 5, 2011

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More recently surveyed prospective parents about whether to inspect all the babies in the detection of disease Fragile-X (a common hereditary disease that leads to the development of hereditary inferiority and a variety of physical, emotional and behavioral characteristics). Opinions of respondents were divided.

For the first time mandatory screening program   Newborn proposed in 2006, the American College of Medical Genetics. The list of major diseases that are mandatory to diagnose there were 29 positions. Among them are such common diseases as phenylketonuria and a mild form of cystic fibrosis.

Then we talk about syndrome, Fragile-X   It was not. Firstly, because of the high cost of analysis (hundreds of dollars now the analysis is much fell to $ 10). Secondly, the identification of the mutated gene did not give clear advantages.

Because the disease is incurable. And most importantly, symptoms may not occur during the life of the child. And in this case, knowledge of the presence of the parents of a child of this insidious disease caused only senseless anxiety. So, the parents all his life will live on a powder keg, knowing that their child at any time, may develop incurable serious health problems.

Among young mothers whose children were born in the maternity hospitals of the University of North Carolina, a study was conducted with the participation of more than 2,000 women. The researchers asked them to answer a question about whether they wish to have their newborn baby was examined Carrier mutation Causing Fragile X chromosome and why.

A negative answer   They gave little more than one-third of respondents. Of these, one-fifth of admitted his reluctance to worry about the results of the study. Approximately the same number of respondents - against any such testing of their children, including genetic. And a little less of the young mothers prefer not to think about what and when their child can get sick.

Most of agreeing on a survey of their newborn children explain their wish that, in the case of a positive result, there will be time to prepare the necessary conditions for the life of the child at the time of the manifestations of his symptoms. Interestingly, many still accepted simply because of a desire to help researchers in their work.

Morbidity statistics syndrome, Fragile-X   I can not talk about this disease as frequent. With the diagnosis of a child born 1 4,000 boys and 6,000 girls. The highest incidence in girls than boys, explained very simply: the girls on one X chromosome more.

As already mentioned, the disease is curable, but it can be prevented. To do this while still pregnancy women undergo the procedure for chromosome analysis.