Are genetic testing and IVF interlinked? [Complete guide]

The rate of seeking fertility treatments is rapidly escalating due to our current ways of living. Many couples prefer to delay their first pregnancy because of a heightened focus on career development in both the parents’ life or financial instability.

The results of blood tests taken during the mother’s period are used to determine the fertility of her eggs. A similar analysis is conducted on the father’s semen sample to assess the fertile semen. The results of these two tests determine the course of action.

Before making any decisions, it is crucial to understand IUI, IVF, and the differences between them.

Intrauterine insemination (IUI)

The IUI is the procedure suggested to solve the problems of conceiving due to low fertility. A doctor or fertility expert do a transvaginal ultrasound on the mother to check the progress of the eggs before ovulation. Once the eggs have attained the optimal size, the patient is ready for the next stage of the treatment. 

The treatment includes an injection that stimulates ovulation in the woman. Then, a fresh semen sample is inserted into the uterus via the cervix with the use of a thin tube. The IUI is quite a simple procedure, taking not more than five minutes from start to finish. The woman can usually resume daily activities after successfully finishing the process. 

In-vitro fertilisation (IVF)

After many attempts of IUI, if the mother still does not conceive, the next step is IVF. IVF is the last resort, as the time taken to produce a viable embryo is more. Several steps are taken to make both the egg from the mother and sperm from the father ready for fertilisation.

In IVF, many factors contribute towards success – key among them being the age of the mother. A single IVF treatment revolves around the mother’s menstrual cycle.

The IVF process involves many steps. First is extracting a viable egg from the mother, and then inseminating it with a semen sample from the father. The last step is inserting the resulting embryo into the uterus of the mother via the cervix. 

Other than these, the mother undergoes weekly shots of hormones and oral medicine to make implantation successful.

Differences between IUI and IVF

Both IUI and IVF have helped families achieve the happiness of a successful pregnancy. IUI is less expensive and less invasive as compared to IVF. Doctors and fertility experts suggest IUI in case of infertility or repeat miscarriages. The IUI treatment is usually successful in cases where the woman is below the age of 40.

IVF, on the other hand, is more invasive, and as a result, quite expensive. But, unlike IUI, the success rate of IVF is more.

Congenital disabilities

According to the National Help Portal of India (NHP), congenital disabilities account for around 6-7% of births, which is about 1.7 million congenital disabilities annually. With most pregnancies happening naturally, it is impossible to detect all anomalies before delivery. Most blood tests are done during the first trimester to rule out common genetic disabilities.

Congenital disabilities can be classified into two categories – structural and functional & developmental. Structural defects that are apparent at birth could be heart defects, cleft lip, spina bifida, or clubfoot. Functional & developmental defects include down syndrome, sickle cell disease, or cystic fibrosis. 

Many defects go undetected for months or even years unless they obstruct a baby’s growth. 

Genetic testing

Before opting for IVF, you must have done tons of research into each aspect of the procedure. You might have come across preimplantation genetic testing. The test takes place before the embryo is implanted to find and select the most viable and healthy embryo. 

The biopsy process extracts 3-8 cells from each embryo to send for testing. Problems regarding suspected gene problems (PGD) and an abnormal number of chromosomes (PGS) can be identified with these tests. The chances of selecting a healthy embryo for implantation increase after analysing the test reports. 

Preimplantation Genetic Diagnosis is an advantage to those couples who have some family history of severe or deadly diseases. Getting a PGD test done reduces the risk of passing forward those defective genes onto the next generation. Single gene disorders like sickle cell anaemia and cystic fibrosis have specific markers that are identified in the test reports.

Preimplantation Genetic Screening (PGS) is the process of determining that the potential embryo contains the usual number of chromosomes, i.e. 46. An embryo containing an abnormal number of chromosomes has the potential of developing into some disability. The test helps the doctors or fertility experts in choosing the healthiest embryo for implantation. 

Should genetic testing be done?

After trying naturally for years and undergoing multiple unsuccessful rounds of IUI, you have decided on trying an IVF procedure. IVF is costly, and the success rate is between 30-35%. 

When the success rate is not so high, it is imperative to get the most out of what could be your only attempt at the IVF procedure.

Genetic testing can help your doctor or fertility expert in implanting you with the healthiest embryo out of the ones formed in the lab. This can help in ruling out a lot of factors that can develop into congenital disabilities and trouble the child at birth or even at an advanced age. 

However, you must be entirely sure about your decision to go for genetic testing. There might be instances where the embryo could be damaged at the time of cell retrieval, making no embryo viable for implantation. It is also essential to understand the risk that even with successful implantation, there might be chances of miscarriage due to some unknown factors. 

Bottom line

The mental stress the decision causes on the potential parents is also not negligible. The patients must be informed and given proper guidance in taking the decision that is best for them.

The key takeaway from here is to understand all the risks and rewards associated with genetic testing. Only with complete information on the IUI and IVF procedures will you be able to make the right choice.