Preimplantation Genetic Screening for Aneuploidy

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Preimplantation genetic screening for aneuploidy helps reduce uncertainty

Aneuploidy is a genetic abnormality that can result in pregnancy loss or a child with severe physical or mental disabilities. Preimplantation genetic screening for aneuploidy at our Virginia fertility center can help hopeful parents avoid passing debilitating genetic disorders to their children.

What is aneuploidy?

Chromosomes are cellular structures that contain DNA. Genetically healthy people have 23 pairs of chromosomes. Normally, a person inherits half of their chromosomes from their mother and half from their father. Aneuploidy occurs when parts of chromosomes beyond the normal 46 are missing or added to a person’s genetic material during cell division.

Aneuploidy in a baby can result in miscarriage or death shortly after birth. Depending on the genes that are missing or duplicated, some people can survive with aneuploidy. However, even when survival is possible, aneuploidy can have a significant impact on a person’s intelligence, health and lifespan. People with aneuploidy may exhibit clusters of symptoms referred to as syndromes. Some of these genetic syndromes include:

  • Trisomy 13
  • Trisomy 18
  • Down syndrome
  • Turner syndrome
  • XXY syndrome
  • Klinefelter syndrome

Sometimes, parents with aneuploidy pass it on to their children. Other times, parents born with a normal genetic makeup can have children born with aneuploidy. The older a cell is, the more likely genetic abnormalities are to develop. Because a woman is born with all the eggs she will ever have, advanced maternal age is associated with an increased likelihood that eggs will exhibit aneuploidy. In fact, at least half of the miscarriages experienced by women over 35 are caused by genetic abnormalities in the baby.

To prevent devastating genetic conditions, our Virginia fertility center offers preimplantation genetic screening for aneuploidy.

How preimplantation genetic screening for aneuploidy works

Preimplantation genetic screening for aneuploidy allows physicians and laboratory technicians to identify genetically normal embryos that are more likely to result in a healthy baby. At our Virginia fertility center, preimplantation genetic screening, or PGS, begins similarly to an in vitro fertilization, or IVF, cycle. A woman undergoes ovarian stimulation to produce mature eggs, which are retrieved from her ovaries and then fertilized with sperm in the laboratory.

A successfully-fertilized egg divides rapidly. After five or six days, the embryo is composed of a cluster of identical cells called a blastocyst. Technicians work carefully to select three to 10 cells from each blastocyst and analyze their genetic material for aneuploidy. The embryos are then frozen since it takes 10-14 days to get the genetic report results back to us.

After PGS, the physician at our Virginia fertility center will plan a frozen embryo transfer cycle and transfer one of the embryos that has been deemed genetically normal into a woman’s uterus. Other healthy embryos are preserved for future transfer. Using PGS gives hopeful parents a better chance of having a successful pregnancy and a healthy baby, and significantly decreases the chance for a miscarriage (most miscarriages are due to genetically abnormal pregnancies).

Individuals and couples with an interest in learning more about PGS should contact our Virginia fertility center today to schedule a consultation.

The Importance of Genetic Screening

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