Preimplantation Genetic Testing (PGT) - Crozer-Keystone Health System - PA

Preimplantation Genetic Testing

The HAN Fertility Center offers preimplantation genetic testing (PGT) to reduce the risk of adverse outcomes due to chromosome number or structure or due to inherited traits or diseases. PGT is an in vitro fertilization (IVF) procedure that involves genetic testing of embryos for genetic abnormalities. Using PGT, only genetically normal and healthy embryos are chosen to be transferred to the uterus. The embryos subsequently undergo implantation and produce a genetically healthy pregnancy.

The embryo biopsy is performed on site by one of our highly trained laboratory professionals with the genetic analysis performed collaborating PGT Centers led by world renowned geneticists.

There are several situations in which PGTmay be indicated, all of which involve alterations in the chromosomes of the developing embryo. Changes in chromosomes can lead to repeated pregnancy loss or failure to establish a pregnancy, or may result in the birth of an affected child, wither with a new genetic alteration or one that is inherited from either or both parents. PGT can help prevent these situations by identifying affected embryos prior to transfer. The oocyte, sperm or both can be the source of the altered genetic material, which may affect the developing embryo.

There are two types of PGT: preimplantation genetic screening and preimplantation genetic diagnosis.

What is Preimplantation Genetic Screening (PGS)?

PGS involves testing an embryo for multiple chromosomal abnormalities in healthy parents, without known genetic abnormalities. It may reveal abnormalities in chromosome number (aneuploidy) such as Down syndrome (Trisomy 21). It may also reveal abnormalities in chromosome position (translocations).

Which Couples Should Consider PGS?

  • Women with a history of recurrent pregnancy loss.
  • Women with recurrent IVF failure.
  • Women of advanced maternal age (> 35 y/o).
  • Couples with male factor infertility.
  • Couples desiring sex selection or family balancing: choosing male or female embryo for transfer to the uterus.

What Are the Benefits of PGS?

Single embryo transfer in conjunction with PGS has been shown to increase pregnancy rates to 50 – 55%.

PGS has been proven to decrease miscarriage rates by as much as 70%.

PGS can decrease your risk of having a baby with chromosomal abnormalities by more than 90%.

Using PGS, implantation rates/embryo increase from 5-35% (depending on age) to 67% (independent of age).

What is Preimplantation Genetic Diagnosis (PGD)?

PGD involves genetic testing of an embryo for a specific gene mutation(s) when one or both genetic parents have a known genetic abnormality.

Which Couples Should Consider PGD?

PGD is recommended when couples are at risk of transmitting a known genetic abnormality to their offspring. This includes couples with X-linked disorders, chromosomal translocations, carriers of autosomal recessive disorders, carriers of autosomal dominant disorders or single gene defects (cystic fibrosis, Huntington disease, sickle cell disease and others).