Definitive non-invasive diagnostic test for Down’s syndrome

This is a very attractive idea, since it will eliminate the risk of miscarriage as a consequence of the diagnostic test. A lot of research work has gone on for years concentrated on utilizing fetal cellular material which can be isolated from the mother’s blood.

The idea is to take a blood sample from the mother, isolated fetal cellular material that is normally found there (in minute quantities) and process it to analyze the chromosomal make-up of the fetus.

There is considerable progress being made in this area. This has been discussed in more details in this section.

Other chromosomal disorders

There are several chromosomal disorders but Down's syndrome affects one in 700 newborns. However, this figure is fluid and, in the medium- and long-term, is bound to be affected by changes in pregnancy patterns (the proportion of women having babies in their "later" years) and the accuracy of screening tests.

Other less common conditions are:

Ø Edward's syndrome (Trisomy 18),

Ø Patau's syndrome (Trisomy 13),

Ø Turner's syndrome (45XO) and

Ø Klinefelter's syndrome (47XXY).

There are several other chromosomal anomalies which are rare and sometimes incompatible with life outside the womb. We shall briefly discuss each one of the ones listed above.

Edward’s syndrome diagnosis: Next Page