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Pgt Provides Answers For Families With Genetic Risks

In a world where the future seems uncertain and the burden of genetic history can be heavy, there is a glimmer of hope for families struggling with the risk of inherited genetic diseases. Preimplantation genetic testing (PGT) can help prevent the transmission of a variety of genetic diseases, including cystic fibrosis, thalassemia, sickle cell anemia, Cystic fibrosis and  spinal muscular atrophy, among others. PGT can also be used to screen for chromosomal abnormalities such as Down syndrome and to select embryos that are a good genetic match for siblings who need a stem cell transplant.

PGT is a sophisticated scientific advance that allows the analysis of embryos during in vitro fertilization (IVF) before pregnancy begins. Genetic disorders and chromosomal abnormalities can have serious consequences for individuals and families. However, PGT addresses this problem by testing embryos for aneuploidy – the presence of an abnormal number of chromosomes – which is a significant cause of problems during pregnancy and birth. By ensuring that only embryos with the correct number of chromosomes are implanted, PGT significantly reduces the risk of miscarriage and increases the chances of a healthy pregnancy.

A common scenario in which preimplantation genetic testing (PGT) can prevent transmission of a genetic disease is in couples where one or both partners carry a recessive genetic mutation. Let's imagine a situation in which you are both carriers of cystic fibrosis, a genetic disease that affects the lungs and digestive system. If you are both carriers, there is a 25 percent chance in each pregnancy that your baby will inherit two copies of the mutated gene and develop cystic fibrosis.

In this scenario, PGT can be used during in vitro fertilization (IVF) to screen embryos for the presence of the genetic mutation before implantation. Embryos that do not carry the mutated gene can then be selected for transfer to your uterus, reducing the risk of passing on cystic fibrosis to your unborn child. By using PGT to identify and select embryos that are free from the genetic mutation, couples can significantly reduce the risk of passing on inherited genetic disorders to their children.

If you are a couple who carries a genetic marker for any specific disease, this would certainly interest you. If the thought of passing this condition to your child haunting your dreams of starting a family, then worry no more, for PGT is the effective process that can effectively screen your embryos for the genetic abnormality even before you're pregnant through IVF, and it is available here in Nigeria.

As stated earlier, the journey begins when you embark on your IVF journey, accompanied by the expertise of their genetic counselor and fertility specialist. You can learn about the different types of PGT: PGT-A for aneuploidy, PGT-M for single-gene disorders, and PGT-SR for structural rearrangements.

The retrieval and fertilization of eggs is typically done in a laboratory setting. As your embryos develop, a few cells are biopsied from each embryo at the blastocyst stage. These cells undergo genetic analysis to detect any chromosomal abnormalities or specific genetic conditions that you might be concerned about. Once the embryos reach the blastocyst stage, a biopsy is taken, and the cells are sent for analysis.

When the results are in, among the embryos, one is a perfect match with no sign of the disease marker. Expectedly, you shed tears of joy and relief! You've found your answer, and it's a resounding yes to moving forward. Months later, with the promise of a new life almost guaranteed, you've crossed the bridge that process provided, from uncertainty to a future filled with potential. Your child will be free from the shadow of a genetic disease, thanks to the power of PGT.

The benefits of PGT are numerous. It enhances the likelihood of your successful and healthy conception by selecting embryos with a healthy number of chromosomes. By transferring genetically screened embryos, the procedure decreases your chances of pregnancy loss. The process allows you to make informed decisions about your pregnancy particularly when there's a known risk of genetic diseases. While PGT offers many advantages, it's essential for you to discuss their unique situations with a fertility specialist. Factors such as age, medical history, and specific genetic risks play a crucial role in determining the appropriateness of the procedure for you as an individual or as a couple.

For you who carries a genetic condition that you fear passing on to your children, this procedure provides answers and peace of mind. It empowers you with the choice to pursue a path to parenthood that is mindful of your genetic legacy, ensuring the health and well-being of future generations. PGT is more than just a medical procedure; it's a transformative tool that shapes the future of family planning. It provides answers for families with genetic risks, offering a chance for children to be born free from the burdens of genetic disorders that have affected their ancestors.

Accessing PGT services in Nigeria is becoming increasingly possible, even though it's still not as widely available as some other fertility treatments.  Reputable fertility clinics that specialize in IVF and advanced fertility treatments may offer these services.

Cost is often a factor to consider and because PGT can be pricey, you should be prepared for the financial investment. Explore insurance coverage options or clinic financing plans if available. If PGT isn't available close by your residential area or zone, you'll need to factor in travel costs and logistics if considering a clinic further away. Success rates are generally good, but it pays to explore clinics about their PGT success rates and experience with the procedure before signing on with them.

NIH Reports Inherited Genetic Factors May Predict The Pattern Of X Chromosome Loss In Older Women

A genomic analysis co-led by NIH suggests that the DNA a woman is born with may influence how her cells respond to chromosomal abnormalities acquired with aging. 

June 16, 2024 – Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may play a role in promoting abnormal blood cells (that have only a single copy of chromosome X) to multiply, which may lead to several health conditions, including cancer. The study, co-led by researchers at the National Institutes of Health's (NIH) National Cancer Institute, was published June 12, 2024, in Nature.As some women age, their white blood cells can lose a copy of chromosome X. A new study sheds light on the potential causes and consequences of this phenomenon. NCI

To better understand the causes and effects of mLOX, researchers analyzed circulating white blood cells of nearly 900,000 women across eight biobanks, of whom 12% had the condition. The researchers identified 56 common genetic variants—located near genes associated with autoimmune diseases and cancer susceptibility—that influenced whether mLOX developed. In addition, rare variants in a gene known as FBXO10 were associated with a doubling in the risk of mLOX.

In women with mLOX, the investigators also identified a set of inherited genetic variants on the X chromosome that were more frequently observed on the retained X chromosome than on the one that was lost. These variants could one day be used to predict which copy of the X chromosome is retained when mLOX occurs. This is important because the copy of the X chromosome with these variants may have a growth advantage that could elevate the woman's risk for blood cancer.

The researchers also looked for associations of mLOX with more than 1,200 diseases and confirmed previous findings of an association with increased risk of leukemia and susceptibility to infections that cause pneumonia.

The scientists suggest that future research should focus on how mLOX interacts with other types of genetic variation and age-related changes to potentially alter disease risk.

Who: Mitchell Machiela, Sc.D., M.P.H., Division of Cancer Epidemiology and Genetics, National Cancer Institute

The Study: "Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection (link is external)" appears June 12, 2024, in Nature.

About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIH's efforts to dramatically reduce the prevalence of cancer and improve the lives of people with cancer. NCI supports a wide range of cancer research and training extramurally through grants and contracts. NCI's intramural research program conducts innovative, transdisciplinary basic, translational, clinical, and epidemiological research on the causes of cancer, avenues for prevention, risk prediction, early detection, and treatment, including research at the NIH Clinical Center—the world's largest research hospital. Learn more about the intramural research done in NCI's Division of Cancer Epidemiology and Genetics. For more information about cancer, please visit the NCI website at cancer.Gov or call NCI's contact center at 1-800-4-CANCER (1-800-422-6237).

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.Nih.Gov.

NIH…Turning Discovery Into Health®

Source & photo: NIH

Study Identifies Genetic Predictors Of X Chromosome Loss In Aging Women

Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may play a role in promoting abnormal blood cells (that have only a single copy of chromosome X) to multiply, which may lead to several health conditions, including cancer. The study, co-led by researchers at the National Cancer Institute, part of the National Institutes of Health, was published June 12, 2024, in Nature.

To better understand the causes and effects of mLOX, researchers analyzed circulating white blood cells of nearly 900,000 women across eight biobanks, of whom 12% had the condition. The researchers identified 56 common genetic variants-;located near genes associated with autoimmune diseases and cancer susceptibility-;that influenced whether mLOX developed. In addition, rare variants in a gene known as FBXO10 were associated with a doubling in the risk of mLOX.

In women with mLOX, the investigators also identified a set of inherited genetic variants on the X chromosome that were more frequently observed on the retained X chromosome than on the one that was lost. These variants could one day be used to predict which copy of the X chromosome is retained when mLOX occurs. This is important because the copy of the X chromosome with these variants may have a growth advantage that could elevate the woman's risk for blood cancer.

The researchers also looked for associations of mLOX with more than 1,200 diseases and confirmed previous findings of an association with increased risk of leukemia and susceptibility to infections that cause pneumonia

The scientists suggest that future research should focus on how mLOX interacts with other types of genetic variation and age-related changes to potentially alter disease risk.

Source:

Journal reference:

Liu, A., et al. (2024). Genetic drivers and cellular selection of female mosaic X chromosome loss. Nature. Doi.Org/10.1038/s41586-024-07533-7.

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