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History and current development of congenital malformation screening in foetuses

Down syndrome

History of the disease

In the 19th and early 20th centuries, it was found that the occurrence of the most common chromosomal aberrations (chromosomal aberration – a different number of chromosomes) of Down's disease is linked to a higher age of the mothers.

Manifestation of the disease

Individuals with Down syndrome have a flat face, skin folds above the eyes give a typical "mongoloid" appearance, heart defects are common. All people affected by chromosome 21 trisomy (Down syndrome) have reduced intelligence.

The first diagnostic test based on amniocyte culture (floating detached epithelial cells in amniotic fluid) was discovered in the 1960s. This examination was initially performed in older pregnant women (over 40 years of age and later over 35 years of age). At the end of the 1980s, it was discovered that the blood of pregnant women with trisomy 21 foetuses (Down's disease) contained different levels of certain substances – markers (alpha-fetoprotein AFP, unconjugated estriol chorionic gonadotropin hCG) in comparison with the blood of mothers with healthy foetuses. This triple test (based on the number of markers – 3) was effectively introduced into the clinical practice together with amniocentesis and amniocyte culture in the late 1980s and especially in the 1990s. Until recently, it was the primary method of chromosomal aberrations and congenital defect testing in the foetus. The disadvantage of this approach was the high financial burden on public health systems and especially the risk of miscarriage after amniocenthesia (1:100) being higher than the risk of aneuploidy in pregnant women.

We must say that this massive and excessive screening was forced by society, which logically lacks tolerance towards genetic defects and congenital malformations in foetuses. This approach (screening in the 2nd trimester) captured 50 to 70% of affected foetuses.

Due to fundamental changes in the social behaviour of the population in developed countries at the end of the 20th and in the 21st century, when increasingly more women delay having their family until the age of 35, there is a need to change this approach and move towards non-invasive, safer screening methods already available in the first trimester of pregnancy.

 

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