Karyotype The Importance of Chromosomal Testing in Fertility

Exploring the causes of infertility requires precision, empathy, and a deeper analysis beyond the obvious. The karyotype, also known as chromosomal testing, is one of the most essential genetic examinations when pregnancy is delayed or repeatedly interrupted. At FertUlity, we utilize the science of genetic biology to provide answers and solutions.

What Is a Karyotype?

A karyotype is a laboratory analysis that examines the number and structure of a person’s chromosomes. Through this test, we can detect chromosomal abnormalities—such as deletions, translocations, or additions of genetic material—which may not have any external symptoms but can affect fertility or cause miscarriages.The test is performed via a blood draw and analysis of white blood cells in the lab, and it applies to both women and men. It is especially useful and recommended in cases of:

Recurrent miscarriages

Unexplained infertility

Failed IVF attempts

Family history of genetic disorders

Why Chromosomal Testing Is Important

Many couples show no apparent problems, but may carry balanced chromosomal abnormalities (e.g., translocation) that lead to embryos with issues — embryos that either fail to implant or result in miscarriage at an early stage.The karyotype reveals these mutations and opens the path to a targeted and personalized strategy:

Adjusting the next therapeutic steps

Possible recommendation for preimplantation genetic testing (PGT-A)

Protection from repeated failed attempts

What the Karyotyping Procedure Involves

Karyotype testing is simple and performed via a blood draw. The sample is then sent to a specialized genetic laboratory for analysis. The analysis takes several days and involves studying cells during their division phase so the chromosomes can be clearly viewed under the microscope.The karyotype visualizes the 46 chromosomes (23 pairs) of the human genome, allowing the specialist to identify any potential numerical or structural abnormalities that may hinder embryo implantation or successful pregnancy completion.

What It Means If a Chromosomal Abnormality Is Found

Diagnosing a chromosomal abnormality—whether in one of the parents or in the embryo itself—does not necessarily mean that pregnancy is impossible. On the contrary, it is a valuable diagnostic finding that allows us to accurately design the most appropriate assisted reproduction strategy.

For example, if a balanced translocation is identified in one parent (i.e., a rearrangement of genetic material without loss), it may be causing miscarriages due to unbalanced forms passed on to embryos. This often explains failed pregnancies or unsuccessful IVF attempts.

This information allows us to apply preimplantation genetic testing (PGT-A) or PGT-SR (specifically for translocations), selecting only embryos that carry normal chromosomal material.

As a result:

The risk of miscarriage is significantly reduced

The chances of a successful pregnancy increase

Psychological and physical strain from repeated failed attempts is avoided

Even in more severe cases, where numerical chromosomal abnormalities such as Turner syndrome or trisomies are detected, alternative solutions such as gamete donation are available. Prevention through diagnosis is power, and chromosomal analysis is one of our strongest tools to achieve a healthy and safe pregnancy.

Frequently Asked Questions About Karyotype

Is karyotyping painful?

No, it’s just a simple blood draw.

When should I undergo chromosomal testing?

Karyotyping is recommended when there are indications of a chromosomal cause for infertility or repeated miscarriages. Specifically:

When a couple has experienced 2 or more miscarriages without an obvious cause

After repeated failed IVF attempts

When there is a strong family history of genetic disorders

In cases of severe male infertility (e.g., oligospermia or asthenospermia)

Can the karyotype reveal mutations that cause genetic syndromes?

Yes. Karyotyping detects macroscopic chromosomal abnormalities — that is, alterations in the number or structure of chromosomes — that may be linked to genetic syndromes. Examples include trisomy 21 (Down syndrome), monosomy X (Turner syndrome), XXY (Klinefelter syndrome), and translocations (swaps of material between chromosomes).In some cases, supplementary molecular tests like FISH or NGS may be required for a more precise mapping of microdeletions or finer mutations.

Is it necessary for both partners to be tested?

In most cases, yes. The couple’s karyotype (both male and female) is necessary because both may be carriers of balanced translocations or other chromosomal anomalies — even without any physical or reproductive symptoms.Analyzing the genetic material from both partners offers a complete picture of the couple’s genetic profile, enables proper family planning, and avoids repeated errors or failed attempts.

Our Doctors

In an era where fertility requires knowledge, care, and substantial guidance, FertUlity is not an impersonal clinic. It is two people who look you in the eye and accompany you step by step on the journey you dream of.

Dr. Maria Oikonomou Obstetrician – Gynecologist

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Dr. Chrysostomos (Makis) Papadopoulos Obstetrician – Gynecologist, MD, PhDc, MIC I

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