Pre-implantation Diagnosis for Healthy Babies

Pre-implantation Diagnosis for Healthy Babies

Here at “Infertility and Lifespan Medical Institute,” our goal is to bring the miracle of a healthy newborn baby into reality. Children are our future. Children are what brings the family into fruition.

One of the miracles of IVF and embryo transfer is that the tiny embryo can be tested in order to make sure it’s genetically normal, even before it is placed into the mother’s womb.

We can test for disorders of chromosomes by a process called PGT-A, which stands for preimplantation genetic diagnosis of aneuploidy. This is the most important type of genetic testing because it rules out Downs syndrome, and it also identifies the sex of the baby. The second type of genetic test on the embryo is called or PGT-M, which stands for preimplantation genetic testing for monogenic disease. PGT-A looks for chromosomal problems, whereas PGT-M looks for where mutations in single genes associated with rare medical conditions.

The technique was first described in 1990 using a method called polymerase chain reaction.  it helped with detection of cystic fibrosis as well as sex linked disorders. By testing the embryo you can avoid needless embryo transfer. Before this technology was available, the mother had to go through amniocentesis or chorionic villous sampling through the vagina to detect a genetic disease. Then, the prospective parents would face the terrible choice of termination or not. Today the Infertility and Lifespan Medical Institute recommends sophisticated next-generation sequencing instead of polymerized chain reaction to delve further into the intricacies of embryonic genes and chromosomes.

With PGT parents can be certain that there are no chromosomal diseases or other detectable gene defects. Furthermore, these normal healthy embryos are the ones that are chosen to be frozen so they can be transferred at a later time for another pregnancy.

How is PGT performed?

Originally, preimplantation genetic testing with embryo biopsy was performed on the third day of the life of the embryo. The problem is that the embryo has only eight cells on day 3. If you take one or two of the cells out on day 3 you are taking out 12 to 24% of the cell mass of the embryo. Why did we do this on day three? Because that many years ago we were unable to culture and grow embryos all of the way to day 5. Day 5 or 6 is the stage at which embryos normally implant in the womb.

On the fifth day of growth the embryo has changed from it one fertilized cell all the way to 120 cells. It is called a blastocyst on day 5. It is divided into two structures: First, there is a layer of cells along the inner lining called the trophectoderm; this will become the future placenta. Secondly, there is a round protruding collection of cells called the inner cell mass; this will become the fetus.

If we biopsy the embryo on the fifth day of growth we can use the cells from the trophectoderm and not touch any of the cells that will ultimately become part of the fetus. This is incredibly safer and it doesn’t disrupt the embryo. Furthermore, the test results using cells from the very early placenta is completely accurate.

Join Doctor Brody and staff to take advantage of all assisted reproductive technologies. Remember, these techniques help mother nature to facilitate pregnancy that our center be a a conduit to the most sophisticated laboratory and clinical techniques. The experience of Dr. Brody in achieving a good clinical response essential.

Author
Dr. Steven A. Brody Dr. Steven A. Brody, the Director of the Infertility & Lifespan Medical Institute in San Diego, has spent his professional career providing compassionate and specialized care to help families overcome infertility. Dr. Brody has authored two textbooks, one at Stanford and one with a Nobel Prize winner at Cambridge, entitled “Principles and Practice of Assisted Human Reproduction.” Dr. Brody earned his M.D. degree at Washington University and continued his education with an internship at Yale, a residency at Stanford, and a fellowship at Baylor. Dr. Brody is the only doctor in the U.S. who has achieved Board Certifications in four distinct specialty areas including: Internal Medicine, Endocrinology & Metabolism, Obstetrics & Gynecology, and Reproductive Endocrinology & Infertility. If you are looking for a compassionate and thorough physician who works with you to overcome infertility and treat any reproductive disorders, call the office or book an appointment online today.

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