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Understanding IVF Genetic Test Results

A PGT clinic helps ensure an embryo is viable.

Preimplantation genetic testing (PGT) is becoming more common with a greater number of people turning to IVF programs to help them conceive. We’ll explain what IVF genetic testing entails, how it reduces risks, and what the test results will mean for your chances of conceiving. 

IVF genetic testing examines embryos during an IVF cycle before the possible transfer to a woman’s uterus. The test is typically carried out in a PGT clinic by specialized laboratory technicians. The test looks for a range of genetic problems that may lead to implantation failure, miscarriage and congenital disabilities if the embryo is carried to term.

The genetic defects detected during testing include Down’s syndrome, sickle cell anemia, and the rearrangement of genes, which can be responsible for pregnancy loss and inherited diseases and conditions. There are three types of PGT:

  • Preimplantation genetic testing for aneuploidy (PGT-A)
  • Preimplantation genetic testing for monogenic/single-gene diseases (PGT-M) 
  • Preimplantation genetic testing for structural chromosome rearrangements (PGT-SR)

IVF genetic testing is performed for two different reasons. The first is to prevent the implantation of embryos with genetic abnormalities that often cause a failed implantation or miscarriage. Secondly, the tests identify embryos with genetic defects that can lead to a child having a genetic disorder causing death or inheritable diseases, such as muscular dystrophy. 

The three types of PGT replace the previous testing that included preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). The new tests are however performed in the same manner. 



PGT-A analyzes the embryo to determine its number of chromosomes. Normal people have 46 chromosomes. They inherit 23 from each parent. An embryo that’s missing a chromosome or has an extra one is called aneuploidy. A missing chromosome is called monosomy, and trisomy denotes an extra chromosome. 

Various types of trisomy can result in live births, including Down’s syndrome (trisomy 21), Patau syndrome (trisomy 13), and Edwards syndrome (trisomy 18). A child can only live with one type of monosomy, and this is called Turner syndrome.



Preimplantation genetic testing for a monogenic disease (PGT-M) is used to look for particular gene mutations one or both parents are known to carry and prevent the transfer of the affected embryo into the uterus. PGT-M tests for known disorders, including:

  • Huntington’s disease
  • Muscular dystrophy
  • Cystic fibrosis
  • Sickle cell anemia
  • BRCA1 & BRCA2 mutations
  • Tay-Sachs syndrome
  • Fragile-X syndrome

BRCA1 and BRCA2 mutations greatly increase a woman’s risk of breast and ovarian cancer. 



PGT-SR analyzes embryos of couples known to have a chromosomal structural rearrangement. These mutations include several classifications like deletions, inversions, translocations and duplications. PGT-SR looks for several mutations, including:

  • Robertsonian translocations
  • Reciprocal translocations
  • Nonreciprocal translocations


Mechanics of IVF Genetic Testing

All three forms of preimplantation genetic testing use the same procedure. The first step of the procedure is an embryo biopsy. In IVF, developed eggs are harvested from the ovaries. In a laboratory, the eggs are fertilized with a sperm. Fertilized eggs are called zygotes, and they’re kept in a formulated culture medium that supports their growth. Between five to six days after fertilization, the embryos develop into what are called blastocytes. When they’ve reached the blastocyte stage, they can be selected for biopsy. A few cells of the blastocytes are gently removed and sent to the PGT clinic for analysis. IVF genetic testing is also commonly performed on embryos that will be frozen for future use.

V-IVF Center works closely with its PGT clinic.

Who is a Candidate for IVF Genetic Testing?

Any embryos can have IVF genetic testing performed at the direction of the patient or couple. However, doctors recommend PGT in specific cases. These cases include:

  • Women over the age of 35 who are at increased risk of producing embryos with genetic abnormalities. 
  • Women with a medical history of recurring miscarriages due to chromosomal abnormalities.
  • Couples who are at risk of passing an inherited genetic disease to their child because of their medical history. 
  • Women who have had several failed IVF/ICSI cycles.

People undergoing IVF are encouraged to have their embryos tested. It increases the chances of successful implantation and a healthy pregnancy. It also can reduce the amount and costs of repeat IVF cycles and can reduce the risk of a failed implantation or miscarriage.


Visit the V-Fertility Center at Vejthani Hospital

For many couples having problems conceiving, embarking on an IVF program represents their last hope of having a biological child. The V-Fertility Center at Vejthani Hospital offers a wide range of infertility treatments that can provide you with the best chance of conceiving naturally. We also offer a comprehensive IVF program that includes all three types of embryonic genetic testing

If you’re having trouble conceiving, make an appointment at the V-Fertility Center.


Written by Dr.Sorramon Songveeratham

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