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Genetic Disorders and Infertility

What is a gene?

The basic physical and functional unit of inheritance is “the gene.” A gene comprises the information required to identify characteristics. Genes are arranged (one after another) into structures referred to as chromosomes.

What is a chromosome?

A chromosome is composed of a single, extensive DNA molecule. Hundreds to thousands of genes are present in each chromosome. Every normal human cell contains 23 pairs of chromosomes for a total of 46 chromosomes. The exception exists for egg and sperm cells.

How is the sex of an individual defined?

One of the 23 chromosome pairs is known as the sex chromosome, while the other 22 pairs are called autosomes. Usually, an individual has two sex chromosomes. A normal female has two X chromosomes (XX), while a male has one X and one Y chromosome (XY).

What is a genetic disorder?

A genetic disorder refers to a condition that results from an alteration or variation within a gene/genes. A gene variant is inherited from either one or both parents.

What are the various types of genetic disorders?

Genetic abnormalities due to numerous other factors:

Types of treatment related to this article

IVF means in vitro fertilization. In vitro means in the laboratory ( outside the body) and fertiliza…
Intracytoplasmic sperm injection (ICSI) is a technique developed to overcome male infertility attrib…
Preimplantation genetic testing for aneuploidies (PGT‐A), formerly known as preimplantation geneti…

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  1. Q) Is there a link between genetic disorders and infertility?

    Yes, many genetic disorders are known to cause infertility. Usually, it leads to abnormal/ aneuploid embryos leading to infertility/repeated IVF failures.

  2. Q) What’s the best way to tackle infertility due to genetic disorders?

    Preimplantation genetic testing (PGT) can help detect genetic abnormalities in embryos created through IVF before they are transferred to the uterus. This can help select embryos that are free from the suspected genetic disorder. It can actually help you to eradicate genetic disorders from the family.

  3. Q) Can genetic disorders cause infertility in both women and men?

    Cystic fibrosis, Y chromosome microdeletions, Klinefelter syndrome, Noonan syndrome, and translocations are genetic disorders that can cause infertility in both men and women. Medical interventions like IVF can help in some cases, but in others, donor sperm or eggs may be the only option.

  4. Q) What is the most common treatment option for infertility linked to genetic disorders?

    IVF (in-vitro fertilization), along with PGT, is a preferred treatment option for infertility in the case of a genetic disorder. This can help them to select genetically normal embryos.

  5. Q) Is genetic counselling beneficial for couples going through infertility?

    Yes, genetic counselling can help couples understand the reasons for infertility. It can help assess their risk of passing on genetic disorders to their children and discuss their options for treatment. Such counselling also helps with decision-making and provides emotional support.