ivf preimplantation genetic diagnosis

IVF Preimplantation Genetic Diagnosis

IVF Preimplantation genetic diagnosis is a procedure done on embryos before the process of in-vitro fertilization to determine defects and abnormalities of genetic origin in the embryos. The procedure is done on couples with a high risk of implantation failure and helps in preventing the transfer of genetic disorders from parents to the developing fetus. For more information related to IVF visit website – http://www.melbourne-ivf.com.au/ and get the latest news update.

IVF preimplantation genetic diagnosis involves obtaining DNA for testing by either;

  • Cleavage embryo biopsy that involves the invitro culturing and fertilization of oocytes for three days followed by their DNA extraction after embryo cleaving. The obtained DNA is then assessed for any genetic abnormalities.
  • Blastocyst biopsy that is done after five days following in vitro fertilization where a blastocyst with many cells has formed. DNA can then be extracted from the cells for genetic diagnosis.

The obtained DNA is analyzed in the lab by a process involving polymerase chain reaction for different types of genetic abnormalities which include;

Structural chromosomal abnormalities ivf preimplantation genetic diagnosis

This is used in determining trans-locational abnormalities in chromosomes. It involves obtaining the blastomere and the polar body of an embryo followed by applying a colored fluorescent probe which is then read. Normal chromosomes will display one color while abnormal chromosomes will display more than one color.


This involves determining the number of chromosomes in the embryo. A normal embryo is known to contain a pair of 23 chromosomes which gives a total of 46 chromosomes.in aneuploidy, however, a single pair of chromosomes has three copies in chromosome number 21 a genetic disorder that leads to Down’s syndrome.

Genetic mutations

This involves the use of PCR to determine abnormalities in protein cording genes involving nucleotides. These include deletion where part of the gene is deleted, insertion involving the addition of an extra gene and duplication involving the copying of genes more than once.

This is characterized by genetic disorders and diseases in the developing fetus.

Sex determination

This is done to determine X-linked disorders in embryos where it’s not possible to determine a genetic mutation to prevent its transmission of the disorder.

Identified embryos without any genetic abnormality are then implanted into the uterus of the mother for fetal development while those with abnormalities are not implanted.

Advantages of IVF preimplantation genetic diagnosis

  • It helps determine genetic abnormalities which could otherwise be inherited by the unborn fetus.
  • It is used to determine the cause of implantation failure and offer possible solutions.
  • The process has a high accuracy rate in determining embryo defects.

However, the process requires complex techniques and also requires continuous testing during pregnancy to ensure that there is no genetic abnormality in the developing fetus.

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