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Link Between Genetic Disorders and Female Infertility

Are you struggling to conceive and wondering if genetic factors could be the cause? At Archish Fertility & IVF, we understand that many women face challenges in having a healthy baby due to genetic issues. These problems can be due to inherited chromosome abnormalities or single-gene defects passed down from parents. Genetic disorders occur when the typical DNA sequence is altered, partly or whole, because of mutations in one or more genes.

Additionally, if other women in your family have had fertility problems due to conditions like premature menopause or endometriosis, you might be at a higher risk of experiencing similar issues.

Chromosome Abnormalities

Chromosome abnormalities in embryos can lead to poor implantation rates. Even if the embryo implants, it might result in a miscarriage or cause the baby to be born with physical or developmental issues. The types of chromosome abnormalities include:

  • Deletion: A missing piece of a chromosome.
  • Inversion: A chromosome that is upside down.
  • Mutation: A change in the gene’s DNA sequence.
  • Aneuploidy: Having too many or too few chromosomes.
  • Translocation: Chromosome pieces attached to the wrong chromosome.

Translocation is the most common of these. Even though a parent with a translocation may be average, their embryo might receive the wrong amount of genetic material, often leading to a miscarriage.

Couples with specific chromosome defects can benefit from preimplantation genetic diagnosis (PGD) combined with in vitro fertilization (IVF).

A typical example of aneuploidy is Down syndrome, which is often associated with advanced maternal age. Down syndrome, also known as trisomy 21, occurs when there are three copies of chromosome 21 instead of the usual two.

Inherited Genetic Disorders

Inherited genetic disorders caused by abnormal genes or mutations are rare. Chromosome analysis of the parents’ blood can identify an inherited genetic cause in almost less than 5% of the couples.

Single-gene abnormalities are caused by changes in the DNA sequence of a gene, affecting protein production needed for cells to function correctly. Examples of single-gene disorders include:

  • Cystic Fibrosis (CF): An incurable and fatal disease affecting the mucous glands of vital organs.
  • Tay-Sachs Disease: A fatal disorder where harmful amounts of a fatty substance pile up in tissues and nerve cells of the brain.

Though rare, these diseases can be devastating. However, detection through PGD combined with IVF has made significant progress. Couples with a known single-gene disorder in their family can use IVF and PGD to avoid the heartache associated with these diseases.

Embryo Testing for Genetic Disorders

During the IVF procedure, the egg is fertilized, and the embryos grow for several days. On the third day, the embryos are typically at the six—to eight-cell stage. One cell is taken from each viable embryo for biopsy and evaluation for genetic diseases through preimplantation genetic testing, which includes PGD and preimplantation genetic screening (PGS). This embryo can compensate for losing one cell, and this process does not hinder its development. Embryos identified as disease-free are then transferred to the woman’s uterus.

Since there is a known error rate for PGD performed before pregnancy, it is recommended that prenatal testing, like chorionic villus sampling (CVS) and amniocentesis, be also conducted to ensure accuracy.

Aneuploidy Screening

Aneuploidy screening checks specific chromosomes that contribute to recurrent miscarriages. This can be performed during PGD and PGS. Below are the most common chromosomal abnormalities related to pregnancy loss include:

  • Trisomy: 3 copies of a chromosome.
  • Monosomy: 1 copy of a chromosome.
  • Triploidy: 3 copies of all the chromosomes.
  • Sex Chromosome Abnormalities.

Like embryo testing, aneuploidy screening involves ovarian stimulation, egg harvesting, laboratory fertilization, embryo culture, and embryonic cell sampling. The removed cell from each embryo is tested for chromosome number or specific chromosome disorders. Only those embryos that test typically are transferred to the womb (uterus), increasing the chances of a healthy pregnancy.

At Archish Fertility & IVF, we offer advanced fertility treatments, including PGD and PGS, to help couples overcome genetic challenges and achieve their dream of having a healthy baby. Our expert team is dedicated in offering personalized care and the latest technologies to support your fertility journey.

Frequently Asked Questions

Our Specialists

Dr. Ankita Gahlot

Fertility Consultant

Dr. Anagha Nawal

Fertility Consultant

Dr. Lakshmi Kumari A

Fertility Consultant

Navin Desai

Male Fertility Expert / Embryology Head