The Role of Genetics in IVF Treatments, Before going through in vitro fertilization (IVF), some couples may need to talk to a genetic counselor.
In vitro fertilization (IVF) is used by millions of infertile couples each year. According to the Centers for Disease Control and Prevention (CDC), there are roughly 1,700 babies born each year in the United States who were conceived using assisted reproductive technology (ART).
If you can’t get pregnant or keep losing babies, you might want to talk to a genetic counselor before going through with in vitro fertilization. This can provide you with additional information about your infertility, allowing you to proceed with IVF with confidence.
Genetic Counseling: Its Importance
Genetic counseling can help you get pregnant by determining if a genetic disorder is to blame for your infertility and improving your chances of a successful IVF pregnancy.
It’s impossible to say what causes infertility and repeated miscarriages in general because they are different for every couple. For example, some couples have trouble conceiving for hereditary reasons, while in most cases it is due to hormonal or physical factors. This can take the form of a chromosomal translocation, an anomaly in which parts of different chromosomes are joined together in the same cell, and it can affect both men and women. Up to 5% of couples who have repeated miscarriages do so because of balanced translocations.
Hereditary things like Klinefelter syndrome and Y chromosomal deletions can also make it hard for men to make sperm. In addition, Kallmann, fragile X syndrome, and other inherited ovulatory abnormalities can affect females. If you have trouble conceiving, genetic testing by your IVF doctor can determine whether or not it’s due to a chromosomal problem and your treatment choices.
Many unsuccessful IVF attempts can be traced back to chromosomal abnormalities. As a result, more and more couples are opting for preimplantation genetic screening. Preimplantation genetic testing can identify defective embryos before they are implanted into the mother, giving the couple a better chance of having a healthy baby. Preimplantation genetic testing can also be used by men and women with a family history of serious genetic diseases like muscular dystrophy, cystic fibrosis, and even breast and ovarian cancer to identify embryos with a lower risk of passing on these diseases to their offspring.
Genetic male infertility
Male fertility can be divided into three distinct etiological categories: pre-testicular, testicular, and post-testicular. OMIM (Online Mendelian Inheritance in Man) says that more than 200 genetic diseases can make men unable to have children. These conditions range from the most common causes of infertility in the clinic to the most complicated syndromes with signs and symptoms that go beyond problems getting pregnant. However, in some hereditary diseases, infertility is the primary phenotypic trait. In most situations, infertility is just one of the clinical indications of a complicated syndrome. Also, it is important to keep an eye on people who can’t have children for a long time because they have a higher rate of illness and a shorter life expectancy than the general population. Both of these things have been linked to genetic defects that are thought to cause male sterility.
Genetic female infertility
Fewer studies have been conducted on the genetic causes of female infertility than male infertility. Because of this, IVF doctors tell fewer infertile women to get tests to see if they have chromosomal diseases or single-gene deficiencies that could explain how they look. Female infertility is often caused by syndromic disorders, and genetic causes of single cases of infertility are very rare. On the other hand, most people with POI get genetic testing to look for chromosomal problems or FMR1 premutation. Therefore, we concentrated on describing these two conditions; however, as shown in Tables 6 and 7, more details have been reported concerning the main chromosomal and genetic alterations that could interfere with healthy reproduction. For each of these, the most common phenotypic presentations and laboratory tests that are available in the prenatal and postnatal periods are described.
Preimplantation Genetic Testing
Preimplantation genetic tests can either be preimplantation genetic screening (PGS) or a preimplantation genetic diagnostic (PGD). Both preimplantation genetic screening and preimplantation genetic diagnosis (PGS and PGD) can improve IVF success rates and reduce the likelihood of passing on a genetic condition to the child.
A critical distinction between PGD and PGS is that the latter counts the number of chromosomes in each embryo. The average number of chromosomes in a developing embryo is 46, with 23 coming from each parent. Aneuploidy is when an embryo has one or more chromosomes that don’t belong to it. Birth abnormalities such as Down syndrome, Turner syndrome, and Patau syndrome are more common in cases of aneuploidy, as are miscarriages and failed implantation. Therefore, if a couple is thinking about undergoing in vitro fertilization, they should consult with the IVF doctor about undergoing PGS if they:
Those who: –
Have had a previous pregnancy affected by aneuploidy
Have had at least two miscarriages or implantation issues
Be beyond the age of 35 and have been told they have infertility
Some couples may choose PGD instead of or along with PGS for different reasons. With PGD, embryos are screened for genetic mutations that one or both parents are worried about. Huntington’s disease, sickle cell anemia, muscular dystrophy, cystic fibrosis, fragile X syndrome, Tay-Sachs disease, and hereditary breast and ovarian cancer are only some of the genetic illnesses that can result from these mutations. PGD should be discussed with an IVF doctor by couples who have a history of single-gene abnormalities like these or who have had many IVF attempts fail or miscarry.