The DNA Dilemma

The DNA Dilemma

PGD/PGS testing offers hope for couples undergoing IVF

Everyone’s DNA is unique. Your genes are part of what makes you who you are. The DNA inherited from your parents also means you probably look a bit like other members of your family. Maybe you have your mother’s eyes or your father’s curly hair. Your genes also have a direct connection to the diseases you might have now or may develop in the future.

Unfortunately, our DNA also influences what genetic disorders we pass on to our children. Birth defects affect one out of every 33 babies born in the United States each year, according to the Centers for Disease Control and Prevention. Not only can birth defects lead to lifelong challenges and disability, they are also the most common cause of infant deaths.

Today, pre-implantation genetic diagnosis (PGD)/pre-implantation genetic screening (PGS) are helping couples with a family history of genetic disorders to dramatically improve their odds of conceiving a healthy child through in vitro fertilization (IVF). For men and women who know they carry the predisposition for certain types of genetic conditions, the chance to ensure that birth defects will not be passed on to their children can provide peace of mind.

What are PGD/PGS?
PGD/PGS are non-surgical screening tests that allow IVF physicians to screen embryos created through IVF for genetic diseases and chromosomal abnormalities. The test can screen for more than 100 different conditions, such as cystic fibrosis, Down’s syndrome, hemophilia, muscular dystrophy, sickle cell anemia and Tay-Sachs disease.

Who should consider PGD/PGS?
PGD/PGS were originally developed to help couples with a family history of genetic diseases. As PGD/PGS have become more refined, we have also found them to be beneficial for couples with recurrent pregnancy loss and/or repeat IVF failure. In some cases, PGD/PGS are also appropriate for women over the age of 35.
How do PGD/PGS work?
PGD/PGS testing is done after a sperm fertilizes an egg, yet before the embryo is transferred to the uterus. The process involves the following steps:

  1. After an embryo developed into an advanced stage embryo, i.e. blastocyst, a couple cells are carefully removed.
  2. DNA and/or chromosomes are extracted from these cells.
  3. The DNA and/or chromosomes are analyzed to determine if there are any identifiable health problems.
  4. If the embryo is found to be healthy and free of genetic disorders, then the embryo will be transferred into the mother’s uterus.

What are the benefits of PGD/PGS?
There are several advantages to PGD/PGS testing:

  • They allow us to analyze many of the most common genetic disorders, which are frequent causes of pregnancy loss and IVF failure. PGD/PGS can help us understand the cause of the problem and identify chromosomally normal embryos prior to embryo transfer.
  • Since the procedure takes place before implantation, it can reduce the requirement for amniocentesis during the pregnancy.
  • PGD/PGS also help to eliminate costly medical expenses associated with caring for a child with birth defects.

Every couple deserves the opportunity to have children that will be healthy and have every chance to succeed in life. With PGD/PGS, we can reduce the risk for birth defects by implanting embryos that are not only free from disease, but also those that carry no copy of the defective gene—preventing the disorder in future generations.

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