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The Benefits of Genetic Diagnosis and Family Balancing


For couples struggling to conceive a child on their own, in vitro fertilization (IVF) provides new hope for building a family. It is used to overcome a range of fertility problems, from damaged fallopian tubes and problems with ovulation to genetic disorders and male infertility. There are two procedures that can be performed during IVF – called pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) – that can help at-risk couples learn more about the health of their embryos before implantation.

Genetic Diagnosis: The Difference Between PGD and PGS

Both pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) involve the removal of one or several cells from an embryo for genetic testing before it’s implanted in the woman’s uterus during an IVF procedure.

With PGD, the goal is to identify embryos that have genetic abnormalities – a problem with their DNA – so that they will not be transferred and implanted. This diagnostic tool is important for women and couples who are at higher risk for having a child with a genetic disorder, such as Cystic Fibrosis or Tay Sachs. By examining the embryo’s DNA and selecting the healthiest candidates for implantation, the doctor can provide the couple undergoing IVF with the best chance for having a disease-free baby.

PGS uses the same technology as PGD to support a different goal. It is used during IVF to help couples who have had miscarriages and implantation problems improve their chances for a successful pregnancy. During PGS, embryos are screened for their chromosomal count to identify missing or additional chromosomes, which are the most common causes for miscarriage. It helps the doctor identify these genetic abnormalities and implant only the healthiest embryos.

“The sophistication of the PGS procedure and the expertise of our laboratory has dramatically increased the pregnancy rate in patients going through in vitro fertilization,” says Albert El-Roiey, M.D., medical director of the Crozer Health Reproductive Endocrinology and Fertility Center. “This is more important for women and couples who are older, since the number of eggs with chromosomal abnormalities increases with age.”

Is It a Boy or a Girl? How Family Balancing Works

Family balancing is the term used for gender selection during IVF to achieve a more balanced representation of genders in a family. For instance, if a family has a daughter and desires a son, family balancing can help the reach their goal.

Family balancing uses the same technology to identify the sex of the embryo. The doctor will screen the DNA by examining a few cells removed from the embryo. After determining the sex of the embryos, only those embryos of the desired sex will then be implanted during the IVF procedure. Family balancing has a nearly 100 percent accuracy rate, so families who select this option have a very high chance of having a baby of the desired gender.

“These procedures are not routine and not advised for every couple,” El-Roeiy says. “However, some of our patients are coming to us at a later stage in life. For them, this technology is excellent in reducing the number of IVF procedures they have to go through, and it produces the best possible outcome.”

Preimplantation Genetic Screening (PGS) & Family Balancing

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