Genetic Testing

PGD – Preimplantation Genetic Diagnosis

WE offers Preimplantation Genetic Diagnosis (PGD) . This test is suitable for patients with a family history of a gene disorder who are at risk of producing embryos that are affected . The technical name of this test is Karyomapping.

Single genes the test picks up includes:

• Cystic Fibrosis
• Fragile X
• Huntingtons’ disease
• Beta-thalassaemia or Spinal Muscular Atrophy.
• Thalassaemia
• Duchenne muscular dystrophy
• BRCA1/BRCA2 (hereditary breast/ovarian cancer).

Karyomapping is a single nucleotide polymorphism (SNP) test that uses a DNA finger-printing technique to identify which embryos have inherited the altered gene.

Karyomapping has the potential to detect some chromosome abnormalities which may be associated with implantation failure, miscarriage, or abnormalities at birth.

How is it done?

The most common embryo testing method is ‘Embryo or Blastomere Biopsy’, whereby some blastomeres or embryonic cells are carefully removed on the fifth day of embryo development and tested.

PGS – Preimplantation Genetic Screening

What is genetic testing in IVF?

Genetic screening of embryos in IVF is known as pre-implantation genetic screening (PGS). Embryos are tested before being implanted to detect issues with chromosomes or genes.

Normal human cells (embryonic cells) contain 46 chromosomes in 23 pairs – 23 chromosomes from each parent. If the egg or sperm has an extra or missing chromosome, the embryo created will have the same error. This can lead to genetic issues including Down syndrome.

Why do we test embryos?

Embryos may look ‘normal’ under the lab microscope, but even those that grow to blastocyst stage (day 5-6) might not have the right number of chromosomes. Genetic testing of embryos during IVF can help:

• couples suffering recurrent miscarriage
• women over 35
• couples with a family history of chromosomal disorders
• if you’ve had unsuccessful IVF cycles.

Screening lets us handpick healthy embryos. Only embryos with the potential to result in a healthy baby are transferred, so the number of treatment cycles needed for a successful ongoing pregnancy can be significantly reduced.

Types of testing

Embryo or blastomere biopsy

This is the most common embryo testing method. We carefully remove some blastomeres (embryonic cells) on day 5 of embryo development to test.

While we do the genetic testing, the embryos are frozen and kept in storage. When the best embryos are identified, they’re used in a frozen IVF cycle. The remaining viable embryos stay frozen for future use.

NIPT – Non-Invasive Prenatal Testing

• NIPT is a simple blood test that screens for the most common chromosomal conditions that can affect your baby’s health at 10 weeks.
• NIPT offers parents-to-be a new choice to obtain important information about the health of their developing baby, simply, accurately and in the first trimester (at 10 weeks), with little or no risk to their pregnancy.
• A sample of your blood is drawn and the genetic material (DNA) from you and your baby is tested.

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