Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). Preimplantation genetic diagnosis screens embryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus.
For couples undergoing IVF, preimplantation genetic diagnosis may be recommended when:
- One or both partners has a history of heritable genetic disorders
- One or both partners is a carrier of a chromosomal abnormality
- The mother is of advanced maternal age
- The mother has a history of recurrent miscarriages
Thousands of clinical preimplantation genetic diagnosis cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies.
- For couples with heritable genetic disorders
Preimplantation genetic diagnosis can be used to determine if embryos produced through in vitro fertilization carry a gene mutation associated with a specific genetic disorder, such as cystic fibrosis or muscular dystrophy.
The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the genetic disorder can be selected for transfer to the uterus, therefore greatly reducing the risk that a couple will pass a genetic disorder onto their child.
Couples who are at high risk of having a child with a severe genetic disorder may choose preimplantation genetic diagnosis for many reasons, including:
- Previous loss of a child from the genetic disorder
- Previous pregnancy adversely affected by the disorder
- Objection to terminating a pregnancy affected by the condition
- Couple has a relative with the disorder
- For couples with chromosomal disorders
Preimplantation genetic diagnosis is also offered to couples when one partner has a chromosomal abnormality, such as an unbalanced translocation or anerplocity. If the abnormality is present in the embryo, the condition could ultimately prevent embryo implantation, lead to pregnancy loss, or result in the birth of a child with congenital malformations (physical problems) or mental retardation.
The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the chromosomal abnormality can be selected for transfer to the uterus, therefore greatly reducing the risk that the pregnancy will be adversely affected by the chromosomal abnormality.
Couples who are at high risk of having a child with a chromosomal disorder may choose preimplantation genetic diagnosis for many reasons, including:
- Previous pregnancy loss due to a chromosomal abnormality
- One partner carries a known chromosomal abnormality
- Multiple pregnancy losses after spontaneous conception
Genetic counseling is an important step to determine if preimplantation genetic diagnosis is an appropriate option for a patient. Penn Fertility Care providers work closely with the genetic counselors in Penn’s Division of Reproductive Genetics. For couples undergoing IVF who are concerned that their child may inherit a genetic disorder or chromosomal abnormality, genetic counselors are available to discuss options and can advise patients on how raising a handicapped child may affect a family.
Preimplantation genetic diagnosis is available for couples undergoing IVF. The steps of the IVF process include:
- Medications are used to suppress a woman's natural menstrual cycle.
- Her ovaries are then stimulated with medications to produce multiple follicles, each of which may contain an oocyte (egg).
- The eggs are retrieved from the woman's ovary by a needle placed in the vagina.
- In the lab, the eggs are combined with the male partner's sperm in a special culture medium that allows fertilization and the growth of high–quality embryos.
After three days in culture, the embryos typically reach the eight–cell stage. One to two cells are removed from each embryo on day three and analyzed by one of the techniques described below:
- Testing for heritable genetic disorders
To test for heritable genetic disorders, the cells from each embryo are analyzed using a very powerful technique called fluorescent polymerase chain reaction (F–PCR). This technique makes millions of copies of a single piece of DNA so a reliable diagnosis can be made for each embryo. The product of the F–PCR technique is then tested for the presence or absence of the known heritable genetic disorder using a range of genetic techniques.
- Testing for chromosomal abnormalities
To test for chromosomal abnormalities, the cells from each embryo are analyzed using a technique call fluorescence in–situ hybridization (FISH). This technique uses probes (small pieces of DNA that match the chromosomes of interest) to study the cell's chromosomal make–up. Each probe is labeled with a different fluorescent dye. These fluorescent probes are then applied to the cell and attached to the chromosomes. Under a fluorescent microscope, the geneticist counts the chromosomes, and, for translocation cases, can distinguish normal cells from cells with an unbalanced translocation.
The results of preimplantation genetic diagnosis are reported to the couple no later than the morning of their scheduled day for embryo transfer. Typically this is five days after oocyte retrieval and in vitro fertilization are performed. Of the embryo(s) that are not affected by the genetic disorder or chromosomal abnormality, the best quality embryo(s) are selected for transfer to the uterus. If additional unaffected and good–quality embryos are available, they may be cryopreserved for a future embryo transfer.
No, preimplantation genetic diagnosis does not replace prenatal testing, such as chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis provides diagnostic information based on the analysis of a single cell. Therefore, prenatal testing is still recommended and currently remains the standard of care.
For more information about preimplantation genetic diagnosis or to schedule an appointment with a Penn Fertility Care specialist, please call 800-789-PENN (7366).
Need an appointment? Request one online 24 hours/day, 7 days/week or call 800-789-PENN (7366) to speak to a referral counselor.