Prenatal diagnosis

The prenatal testing (prenatal diagnosis) offered to couples today has the following aims:

1. To detect abnormalities in the fetus, either anatomical ones, which can be diagnosed with ultrasound, or those with a known genetic basis, which can be identified with cytogenetic techniques (PCR, FISH, etc.).
2. To detect conditions in the mother that can affect the child’s health. This testing mainly concerns the routine tests of the first trimester, which are recommended for all women.
3. To estimate the chance that the fetus has a chromosomal abnormality (that is, damage to the genetic material that shows itself in the child as a disease). The doctor, together with you, will then decide what needs to be done for the pregnant woman and the fetus, to rule out the possibility that the fetus has any disease, or to identify the disease it has.

Apart from the routine tests, a number of indications call for prenatal testing, usually invasive, in quite a large number of pregnancies. These indications are:

• a previous pregnancy with a chromosomal abnormality,
• a single-gene (monogenic) disorder, either because one or both parents are heterozygous/homozygous, or because a child with the disease has already been born,
• a previous pregnancy with major or multiple congenital abnormalities, and
• exposure to teratogenic (potentially harmful to the fetus) agents, such as medicines, radiation, microorganisms that are toxic to the fetus, and chemical/environmental substances.

Progress in the quality of prenatal testing in recent years has been impressive. It is due, on the one hand, to the constant improvement of ultrasound (better imaging and sharpness, the wealth of experience gained, the specialisation of staff and the introduction of new possibilities such as three-dimensional or four-dimensional (4D) real-time ultrasound) and, on the other hand, to progress in cytogenetics and above all the introduction of newer molecular biology methods (PCR, FISH, etc.).

At Fertility Clinic, doctors who specialise in maternal–fetal medicine carry out all the diagnostic tests that monitor the development of the fetus, using state-of-the-art, high-resolution ultrasound machines with three- and four-dimensional (3D/4D) imaging and special software.