Prenatal Genetic Diagnosis

Prenatal Genetic Diagnosis includes all actions aimed at detecting and/or diagnosing a congenital defect such as morphological, structural, functional or molecular developmental anomalies present at birth.

What does it consist of?

Prenatal Genetic Diagnosis analyses the genetic material that comes from the foetus and circulates freely in the mother's blood during pregnancy, to detect if there is any obvious genetic or chromosomal abnormality.
There are several types, which are classified according to the method of obtaining the foetal sample and the type of molecular analysis carried out.

According to the type of fetal sample collection, there are invasive methods, which pose a risk to the course of pregnancy (1% risk of miscarriage) such as amnioscentesis, chorionic villus sampling and cordocentesis; and there are non-invasive methods that pose no risk of fetal loss such as collection of free fetal DNA from peripheral blood and analysis of fetal cells from a maternal blood sample.

Why is it so important?

Its main advantage is the early detection of foetal abnormalities for timely decision making and to avoid risks to the pregnancy and foetus.

Early diagnosis of any congenital defect in the foetus makes it possible to adopt the appropriate measures, both during pregnancy and childbirth, and avoids unnecessary risks to mother and child. In assisted reproduction, it is another tool to ensure that the whole infertility resolution process will result in a baby free of trisomy 13 (Patau's Syndrome), 18 (Edwards' Syndrome) and trisomy 21 (Down's Syndrome).

How is this done?

Analysis can be carried out by a variety of techniques, from fluorescence in situ hybridisation (FISH), which analyses a limited number of chromosomes (13, 18, 21 and sex chromosomes), karyotyping which analyses the entire chromosome set and is performed by culturing cells in a metaphase state, and massively parallel sequencing (NGS) which uses free DNA and is the most advanced technique and has the potential to detect all types of genomic variation in a single experiment, including free nucleotide variants and nucleotide variants, and massively parallel sequencing (NGS) which uses free DNA and is the most advanced technique and has the potential to detect all types of genomic variation in a single experiment, including single nucleotide variants or point mutations, small insertions and deletions, inversions, translocations and duplications. The use of NGS in prenatal genetic diagnosis has been shown to be effective in detecting aneuploidy from fetal DNA present in maternal plasma as early as week 8 of pregnancy.

Who is it recommended for?

It is especially recommended for those women who, after the first trimester screening tests, present a high risk index for chromosomal abnormalities.

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