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Ensuring thalassemia-free babies through PGT-M
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dr. Arie A.Polim.
A
s befitting its status as a major life event, trying for a baby can be both exciting and daunting at the same time. It comes as no surprise, of course, that many would-be parents will try their best to get everything right.
While most couples will go through the process with relative ease, patients with underlying health conditions will know that the path ahead can be a rocky one, especially for those with hereditary conditions like thalassemia.
Thalassemia is a genetic disorder characterized by decreased production of hemoglobin, or the oxygen-carrying protein in red blood cells. This in turn causes a shortage of oxygen in the blood flow as well as anemia, which can cause further health complications down the line.
The disorder can be differentiated into two main types - alpha thalassemia and beta thalassemia - depending on the affected part of the hemoglobin. The two types can be further identified by its severity, generally known as thalassemia major and thalassemia minor.
Like its name implies, thalassemia minor is a milder form of the disorder, where the patients may have milder symptoms with mild anemia. By contrast, thalassemia major entails a lifelong battle, with patients experiencing severe symptoms and complications while needing frequent medical treatments such as blood transfusions.
Medical director of Morula IVF Indonesia Dr. dr. Arie A. Polim, D.MAS, MSc , SpOG (K) FER told The Jakarta Post that around 6 to 10 percent of Indonesians carry the thalassemia gene, noting that Central Government Hospital records up to 20 cases annually.
“In the case of thalassemia major, this can be fatal for newborns if not detected soon enough, while thalassemia minor can be observed at 4 to 6 years,” he explained.
While patients with thalassemia minor cannot take a downturn for the worse into thalassemia major, there is a chance that it can develop in their offspring.
According to Arie, if both sets of parents carry the thalassemia minor gene, there is a 50 percent chance for the baby to be a carrier, with a 25 percent chance of being perfectly healthy and another 25 percent chance of suffering thalassemia major.
While there is no cure to thalassemia, prospective parents can still avoid passing down the gene to their children through a medical procedure, namely the Pre-implantation Genetic Testing for Monogenic Diseases (PGT-M).
PGT-M covers a wide range of diseases, thalassemia being one of them. The testing is a vital component in the in-vitro fertilization (IVF) process.
“Preceding PGT-M is PGT-A or Pre-implantation Genetic Testing for Aneuploidy, where we screen the embryo’s chromosomes. If the chromosomes are abnormal, the embryo cannot be processed further.”
After procuring an embryo with normal chromosomes, the PGT-M process entails a biopsy on the embryos to identify those carrying the thalassemia gene.
The IVF process itself takes two weeks, then another two weeks for PGT-A. After that, the PGT-M process can take approximately one month.
Arie noted that only perfectly healthy and normal embryos are recommended for transfer so as to deliver thalassemia-free babies, or at the very least babies not afflicted with thalassemia major.
While prospective parents can take their chances with normal fertilization, he continues, PGT-M is the safest option for them to have a healthy baby as there is no cure for thalassemia. What the process does is prevent complications from being passed down.
“Patients with thalassemia major may feel hopeless at times; I’ve met loving couples who are very worried about pregnancy. Around ten years ago, I said that pregnancy is not an option as the mother requires daily blood transfusions - there was nothing that could be done except adoption.
“With this technology, we now can provide a glimmer of hope to these patients that they can have a baby, while couples with thalassemia minor can be assured that their children will be thalassemia-free for generations to come.”
Arie said, adding that Morula IVF Indonesia offers the PGT-M procedure at Morula IVF Jakarta Clinic.
