Texas Fertility Center Employs PGD to Help Austin Couple Avoid Passing Rare Genetic Defect to Their Baby

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Preimplantation genetic diagnosis FISH test allows doctors to identify genetic disease in embryos.

Austin Fertility Specialist, Lisa Hansard, MD

Lisa Hansard, MD

"PGD (Preimplantation Genetic Diagnosis) allows us to detect chronic or fatal conditions prior to conception to save the couple from experiencing the loss of their child after birth," says reproductive endocrinologist Dr. Lisa Hansard.

Monti and Robert wanted children, but knew they would be at risk for Hyper IGM syndrome, a rare genetic disease that claimed the lives of three of Monti’s brothers. An obgyn referral to Texas Fertility Center reassured them that with preimplantation genetic diagnosis, PGD, they could significantly reduce the risk of passing along the inheritable condition.

DNA mapping has led to an advanced reproductive technology called PGD that enabled Robert Janca and Monti Pal to conceive a baby without the threat of inheritable genetic disease that runs in Monti’s family. Without PGD, Monti had a 50-50 chance of having a baby with the genetic disease.

Watch here to see the life-saving preventive treatment that led to Monti’s progressing pregnancy.

"Losing my brother almost eight years ago was devastating," says Monti. "We are blessed that we do not have to put our children through that, and that there is an option."

Monti knew her carrier status because of family history. For unknowing carriers of recessive single gene disorders, a blood or saliva sample sent to an outside laboratory reveals which, if any, genes are missing or duplicated, and identifies problems with proteins within those genes.

This preventive PGD treatment is available to couples that carry genes for specific disorders. There may be a known family history, or one or both partner may be an unknowing carrier of these disorders:

  •     Cystic fibrosis
  •     Huntington’s disease
  •     Sickle cell disease
  •     Muscular dystrophy
  •     Tay-Sachs
  •     Hemophilia
  •     Polycystic kidney

When signs point to inheritable genetic disease, as in Monti’s case, Texas Fertility Center offers PGD in conjunction with in vitro fertilization.

"PGD allows us to detect chronic or fatal conditions prior to conception to save the couple from experiencing the loss of their child after birth," says reproductive endocrinologist Dr. Lisa Hansard. "Monti is now in her second trimester and PGD testing indicates that her baby is not a carrier. There is nothing that brings me greater joy or satisfaction than delivering good news like Monti’s."

About the PGD Process

PGD is an IVF laboratory technique used to diagnose genetic or chromosomal problems in an embryo before pregnancy occurs.

1.    Ovulation induction and sperm retrieval takes place so fertilization can occur in the IVF lab.

2.    On day 3 or 5 after the sperm fertilizes the egg, the embryologists remove 1-4 cells for biopsy, without affecting the health or viability of the embryo. The embryo is then returned to the incubator to continue development (in the case of a day 3 biopsy), or frozen while awaiting test results available in the woman’s next cycle (day 5 biopsy).

3.    In a technique called fluorescence in-situ hybridization (FISH), small probes that detect the affected gene are mixed with the DNA from the biopsied cells. If the cell carries the affected gene, a colored label will be fluorescent under the microscope.

4.    Results allow embryologists and fertility specialists to select unaffected, healthy embryos for transfer back to the uterus on Day 5 of the IVF cycle, or in the following cycle in the case of a frozen embryo.

Without this breakthrough fertility treatment, if both partners are carriers, the chances for having a baby with the disease are 1 in 4. (stats from the American Congress of Obstetricians and Gynecologists)

Couples can investigate their carrier status with preconception testing, administered as a blood or saliva test. Or, they may benefit from preimplantation genetic screening PGS. This type of embryo biopsy casts a wider net than PGD. PGS can detect chromosomal abnormalities such as Down's Syndrome in an embryo for couples that are at risk, such as women in their later reproductive years.

The former TFC patient and pregnant mom encourages others with a family history of genetic disease to have hope.

"Call, go in for a consult," Monti says. "In my experience at TFC, you will have kind people to guide you, and a supportive, caring and understanding staff. All of your questions will be answered. Everyone is thorough and, most of all, you aren't a number. TFC really cares."

About Texas Fertility Center

Texas Fertility Center (TFC), one of the nation’s leading full-service infertility practices, provides advanced Infertility and Reproductive Endocrinology services to patients throughout Texas, the Southwestern United States, and the Americas. Since 1980, TFC has been recognized nationally for outstanding pregnancy rates, cutting-edge laboratory procedures, and innovative research programs. For more information, please visit http://www.txfertility.com.

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Amy Hall
since: 04/2010
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Texas Fertility Center
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