As part of a fertility investigation, specialized tests can be performed that help us identify hereditary or chromosomal abnormalities, which may affect conception or the development of a pregnancy.

Basic tests include:

• Peripheral blood karyotype

• Screening for mutations associated with Cystic Fibrosis

• Detection of microdeletions on the Y chromosome

What is Karyotype?

karyotype is the test that allows us to evaluate the number and structure of chromosomes. Chromosomes are located in the nucleus of cells and contain the genetic material (DNA) that determines hereditary characteristics.

Normally, each cell in the human body has 46 chromosomes, organized into 23 pairs:

• 23 chromosomes come from the mother

• 23 chromosomes come from the father

The only exception is eggs and sperm, which have 23 chromosomes each, so that during fertilization the embryo results with the normal number: 46 chromosomes.

When is Karyotype testing important?

If one of the two parents carries a chromosomal abnormality, it can be transferred to the eggs or sperm and, by extension, to the embryos that are created.
This can lead to:

• repeated implantation failures

• recurrent miscarriages

• infertility without apparent causes

The probability of an infertile couple having a pathological karyotype is estimated at approximately 4%.

How is the examination performed?

The test is performed simply by taking blood and does not require any special preparation.
In the context of assisted reproduction, the karyotype is a essential tool, because it can:

• to guide treatment choice

• to reduce the risk of miscarriage

• να συμβάλλει στην επιλογή υγιών εμβρύων σε συνδυασμό με άλλες γενετικές εξετάσεις