Hope for ending the heartache of multiple miscarriages
It was after years of searching for the answer to why she recurrently miscarried, that Jane Smith* scheduled an appointment for herself and her husband with Virtua geneticist,
Cheryl Reid, MD.
"I was skeptical," recalls her husband. "After all, we'd already been to New York City and Philadelphia to meet with the best of the best in maternal- fetal medicine. None of them could help us. I sure didn't think a South Jersey doctor would have the answers we needed."
That was in the spring of 2001. Now, says this father of a two-year-old daughter born in August 2003, "I have to eat my words."
Virtua doctors on the cutting edge
Dr. Reid determined that Jane has a chromosomal abnormality that causes her to miscarry frequently. She recommended the couple try pre-implantation genetic diagnosis (PGD).
Three Virtua reproductive endocrinologists, Stephen Sawin, MD, George Taliadouros, MD, and Peter Van Deerlin, MD, offer this cutting-edge technique that combines genetic testing with in-vitro fertilization (IVF). The goal is to determine — before pregnancy — if embryos are at risk for carrying specific genetic or chromosomal abnormalities.
PGD is appropriate for patients either who have experienced multiple miscarriages, or those with a family history of hereditary diseases such as Tay Sachs disease or cystic fibrosis. Currently, there are more than 100 diseases identifiable with PGD.
Combining in-vitro fertilization with genetics
The procedure begins with a regular IVF routine — where eggs are taken from the woman and fertilized with her partner's sperm in a lab. The embryos are then tested for disease or chromosomal abnormalities
For patients who have had multiple miscarriages (generally defined as three or more), chromosomal abnormalities in the fetus are often to blame. Using PGD, physicians examine cells extracted from the embryos to look for issues such as the wrong number of chromosomes or structural problems with the chromosomal material.
In cases where hereditary disease is suspected, a blood test is done on the patients before the IVF procedure. This is used to determine which genetic probe — a microscopic tag that finds and attaches itself to any mutations — should be used on cells extracted from the embryos.
In the Smith's case, a mix up in the order of her chromosomes was causing her to miscarry frequently.
Grateful for the gift of parenthood
The same is true of another South Jersey couple currently undergoing treatment with Drs. Sawin and Van Deerlin. Although the couple already has a two-year old daughter, born without the help of PGD, they also have experienced recurrent miscarriage due to a chromosomal abnormality. With the help of PGD, the couple now is expecting their second child in April.
"Success rates are generally good with PGD — about 50% per try — because most of the patients are not infertile," says Dr. Van Deerlin.
"It all might seem kind of clinical, but it's pretty incredible that PGD makes it possible for me to have another child," says the expectant mother. "For that, I am very grateful."
Smith agrees: "We are definitely blessed."
*Name changed to protect privacy
Physician profiles
Cheryl Reid, MD, is board certified in clinical genetics and pediatrics. Dr. Reid graduated from UMDNJ-Robert Wood Johnson Medical School and completed a residency in pediatrics at Montefiore Medical Center of Albert Einstein College of Medicine, Bronx, New York. Dr. Reid also completed a fellowship in clinical genetics at Johns Hopkins Medical Institutions and Kennedy Krieger Institute in Baltimore Maryland.
Steven Sawin, MD, is board certified in reproductive endocrinology and obstetrics and gynecology. Dr. Sawin graduated from the University of Rochester School of Medicine and Dentistry. He completed a residency in obstetrics and gynecology and a fellowship in reproductive endocrinology and infertility at the Hospital of the University of Pennsylvania.
George Taliadouros, MD, graduated from the National and Capodistrian University in Athens, Greece. He completed a residency in obstetrics and gynecology at Northeastern Ohio University. Dr. Taliadouros completed a fellowship in reproductive endocrinology at the National Institutes of Health in Bethesda, Maryland, and a fellowship in reproductive endocrinology and infertility at Case Western Reserve in Cleveland, Ohio. He is board certified in obstetrics and gynecology.
Peter Van Deerlin, MD, is board certified in reproductive endocrinology and obstetrics and gynecology. Dr. Van Deerlin graduated from and completed a residency in obstetrics and gynecology at Washington University in St. Louis, Missouri. He completed a fellowship in reproductive endocrinology and infertility at the Hospital of the University of Pennsylvania.