Using genetic tests to screen embryos for inheritable diseases has been around for a while now. However, the technology is still gradually maturing and recent advances have fine-tuned the genetic techniques making them safer and more accurate.
While genetic testing for embryos has come a long way since the early days of its introduction over a decade ago, many issues still remain. For one, genetic testing can be very expensive. Expecting couples may have to spend around $20,000 for testing and in-vitro fertilization. This puts the technology out of reach for most people. However, scientists have been developing novel technique for identifying the genes responsible for a wide variety of inheritable diseases.
For the 30-year-old Tennessee resident Amanda Kalinsky, a recently developed procedure allowed her to give birth to healthy children free from a deadly inheritable disease. Four years ago, Kalinsky was diagnosed with a rare disease called Gertsmann-Straussker-Scheinker Syndrome or GSS. This rare condition is caused by a genetic mutation that can be passed down to offspring. The disease is a neurodegenerative condition that can affect patients from 20 to 60 years of age. The disease is also fatal and no cure has been found as of yet.
Using a new in-vitro fertilization and testing procedure, Kalinsky was able to pick from a selection of fertilized embryos. Since the testing procedure identified which of the embryos were healthy, Kalinsky was able to give birth to healthy children. Kalinsky's children, a 9 and a half year old boy named Tatum, and the 3 year old twins Cole and Ava, can rest easy knowing that they did not inherit their mother's rare condition.
"The 2 embryos implanted successfully, and the patient conceived twins. Healthy infants were delivered by a Cesarean section at 33 weeks and 5 days of gestation, each weighing more than 4 pounds," said Duke University's Dr. Alice Uflacker and her team. " As expected, due to their prematurity, the infants were slightly below the curve for weight for age and for head circumference, both of which normalized by age 3 months. By age 27 months, the infants had consistently completed communicative, social, and emotional developmental milestones on schedule."
Despite the increasing reliability and the gradual decrease in testing prices, ethical issues naturally crop up when doctors identify the presence of potentially debilitating disease in an unborn child. Some parents would rather opt for abortion than deal with a child diagnosed with certain diseases than may lead to slow and excruciatingly painful death.
