This is chromosome testing for couples with a history of children with abnormalities, recurrent miscarriage, or infertility. Chromosome testing helps identify part of the cause of a child's abnormality or the cause of miscarriage. It is useful for counseling those who wish to have another child and for detecting abnormalities in a future child.
Chromosome testing for couples is done by the same method as for newborns, using the couple's blood samples. The laboratory cultures the blood cells in cell-culture medium and stimulates the white blood cells to divide and multiply, giving chromosomes visible under a microscope. The chromosomes are then stained and arranged to analyze for abnormalities. In the past this was done by photographing and cutting by hand; today we have computerized chromosome analyzers to assist, making the work faster and more accurate. Preparing chromosomes and analyzing abnormalities must be done by specialists in this field; sometimes small abnormalities are missed by those without enough experience, so chromosomal abnormalities go unseen and the diagnosis differs from reality.
Our laboratory has examined chromosomes from couples with such problems since 1997, testing about 800 cases per year. Patients' blood samples come from hospitals across the country that have no chromosome laboratory specialists.
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