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Reproductive Genetics

It is estimated that genetics contribute up to 10 percent of infertility issues or recurrent pregnancy losses in couples. The risk of finding chromosomal abnormalities grows as the age of the mother increases. Most embryos with an incorrect number of chromosomes fail to implant or miscarry during the first trimester of pregnancy. Genetic testing protocols have the potential to help many of those couples in their quest to have a family. Our comprehensive list of genetic testing services can greatly increase your chances of becoming a mother.

Pre-implantation Genetic Screening (PGS)

The Concept

PGS is a last generation genetic test that allows us to screen for chromosomal abnormalities on embryos during an IVF cycle. The procedure requires to make a small biopsy on the embryos on which the analysis is performed. PGS analyse all 24 chromosome types using array Comparative Genomic Hybridisation (aCGH), in order to detect aneuploidies (alterations in the number of chromosomes) and select chromosomally normal embryos for transfer which are the most likely to develop to term and to be born as a healthy baby. The most common syndromes caused by chromosome aneuploidies are Down syndrome, Edwards syndrome and Patau syndrome.

Who is this for

Most of spontaneous miscarriages and some birth defects are caused by chromosomal abnormalities and the risks of having a child with a chromosome abnormality increases with maternal age. For this reason, PGS is especially recommended for:

i. Women over 35 years of age
ii. Couples who have experienced several spontaneous miscarriages of unknown cause
iii. Couples with several cycles of IVF that have not achieved pregnancy
iv. Men with low sperm concentration
v. Couples with a previous pregnancy with chromosomal abnormality

Pre-implantation Genetic Diagnosis (PGD)

The Concept

While PGD also analyzes a small piece of the embryos during an IVF cycle to detect genetic alterations, it is focussed on single gene diseases or mutations. Common examples of monogenic disorders are cystic fibrosis, fragile X syndrome, spinal muscular dystrophies (SMA), Duchenne muscular dystrophy (DMD), Huntington disease. PGD helps couples who have an increased risk for a genetic disease to conceive a healthy pregnancy.

Who is this for

 

  • Fertile couples who have a known history of a genetic condition in their families.
  • Any condition for which the couple’s offspring are at risk.

 

Endometrial Receptivity Array [ERA ]

The Concept

ERA is a personalized genetic test to diagnose the state of endometrial receptivity in the window of implantation. ERA determines the exact time period during which an embryo needs to be transferred into the woman’s uterus to achieve a successful pregnancy.

Who is this for

This test is advised

  • for patients who have had implantation failure with embryos of good morphological quality (at least 3 failed embryo transfers for younger women or two in patients 37 years or more).
  • for patients with apparently normal uterus and with normal endometrial thickness (≤6mm), in which no problems are apparent.

You can submit your queries to our Infertility Specialist here : Ask a Doctor

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