Prueba genética y prenatal

Breast cancer gene 2, or BRCA2, is one of the two main genes associated with an increased risk of breast cancer. It is involved in repairing damaged DNA. Changes in this gene mainly increases the risk of breast and ovarian cancers, but they can also increase the risk of other cancers like pancreatic cancer and melanoma. BRCA2 changes also significantly raise the risk of breast cancer in men. Genetic testing for BRCA2 can help evaluate an individual's risk and make appropriate decisions regarding preventive measures or treatments.

Carrier screening is a type of genetic test that helps check if a person carries a gene for a hereditary condition, even if they do not have symptoms of that condition. This test is often done before pregnancy or early in pregnancy to evaluate the risk of passing on genetic disorders to the child. For example, screening can identify carriers of conditions like cystic fibrosis or sickle cell disease. Knowing carrier status can help individuals make appropriate decisions about family planning and potential steps to manage or reduce the risk of these conditions.

A karyotype test is a medical test used to examine a person’s chromosomes, which are structures in the cells that contain genetic information. The test involves taking a sample of cells, usually from blood, and then arranging the chromosomes in a specific order to look for any abnormalities in their number or structure. This test can help diagnose genetic disorders, such as Down syndrome or other chromosomal abnormalities, and is often used during pregnancy or when there are concerns about genetic conditions.

Methylenetetrahydrofolate reductase (MTHFR) is a gene that provides instructions for making an enzyme of the same name. This enzyme is crucial for processing folate, a type of vitamin B9, and controlling levels of homocysteine, an amino acid in the blood. This gene has a crucial role in several bodily functions, including DNA creation and repair. Variations or changes in the MTHFR gene can affect how well the enzyme works, which may impact overall health and increase the risk of certain conditions, such as heart disease or complications during pregnancy.

An MTHFR gene test is a medical test that examines variations in the MTHFR gene, which provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays an important role in processing amino acids and breaking down folate, a type of vitamin B9, in the body. Variations or changes in the MTHFR gene can affect how well this enzyme functions, potentially impacting folate processing and increasing the risk for certain health conditions, such as cardiovascular diseases, problems that are present at birth, and some types of cancer. The MTHFR gene test helps identify these variations, which can help in treatment and making lifestyle adjustments to manage associated health risks.

A pharmacogenetic test is a type of genetic test that looks at how a person’s genes affect their response to medications. This test helps determine the most effective and safest drugs for an individual based on their genetic formation. It can provide information on how well a person will process or react to certain medications, which can help doctors in choosing the right treatment and dosage. This can help to avoid dangerous reactions and improve the effectiveness of treatments.

The PTEN gene provides instructions for making a protein that helps manage cell growth and division. This gene plays a key role in controlling how cells grow, multiply, and stay healthy. Changes in the PTEN gene can lead to uncontrolled cell growth, which can result in certain types of cancer or other health conditions. Abnormalities in the PTEN gene are related to disorders like Cowden syndrome and some other genetic conditions that increase the risk of developing various cancers.

A PTEN genetic test analyzes the PTEN gene to check for changes. This test helps identify genetic changes that may increase the risk of certain cancers or other health conditions. It is often used to diagnose conditions like Cowden syndrome and other disorders related to PTEN abnormalities. Identifying changes in the PTEN gene can help choose medical management and preventive measures for those at risk.

The tumor protein P53 gene (TP53 gene) is crucial for managing cell growth and preventing cancer. It produces a protein that acts as a tumor preventer by repairing DNA damage or causing cell death if the damage is irreparable. Changes in the TP53 gene can lead to uncontrolled cell division and tumor formation, making it a main focus in cancer research and treatment.

A tumor protein P53 genetic test (TP53 genetic test) is used to analyze the TP53 gene for changes. This gene is essential for managing cell growth and preventing cancer by repairing damaged DNA or causing cells with irreparable damage to die. Changes in the TP53 gene can lead to uncontrolled cell growth and cancer development. The test helps in diagnosing certain types of cancer, evaluating cancer risk, and making treatment decisions.

A protein molecule is a large, complex structure made up of one or more chains of amino acids, which are the building blocks of proteins. Proteins perform a variety of functions within living organisms, including speeding up metabolic reactions, copying DNA, responding to signals, and transporting molecules. Each protein molecule has a unique shape and function, determined by the order of amino acids and the way the molecule folds into its three-dimensional form. Proteins are essential for the structure, function, and management of the body's tissues and organs.

A karyotype is a picture of all the chromosomes in a cell, arranged in a standard format. This arrangement helps to see if there are any abnormalities in the number or structure of the chromosomes. The chromosomes are paired and arranged by size and shape, making it easier to study and identify any genetic issues or conditions. A karyotype can be used to diagnose genetic disorders, monitor changes in chromosome patterns, and understand the effects of genetic factors on certain diseases.

Preimplantation genetic testing (PGT) is a procedure used during in vitro fertilization (IVF), where eggs and sperm are combined outside the body to create embryos, which are early-stage forms of human development. PGT involves examining these embryos for specific genetic conditions before they are implanted into the uterus. By removing a few cells from each embryo, doctors can check for genetic abnormalities or chromosomal issues. This helps ensure that only embryos without these issues are selected for implantation, reducing the risk of passing on certain genetic conditions and improving the chances of a healthy pregnancy.

Amniocentesis is a medical procedure used during pregnancy to examine the fluid that surrounds the baby in the womb. This fluid, known as amniotic fluid, is contained within the amniotic sac, a protective layer. During the procedure, a thin needle is carefully inserted through the abdomen and into the amniotic sac to collect a small sample of the fluid. The fluid contains cells shed by the baby, which are then analyzed for genetic conditions or chromosomal abnormalities, such as Down syndrome. Amniocentesis is usually performed between the 15th and 20th weeks of pregnancy and can provide important information about the baby's health, although it involves some risks, such as a small chance of miscarriage.

Chorionic villus sampling (CVS) is a test done during pregnancy to examine the genetic health of a developing baby. It involves taking a small sample of tissue from the placenta, which is the organ that provides nutrients and oxygen to the baby. This tissue, known as chorionic villi, contains the same genetic formation as the baby. During the procedure, a thin tube is inserted through the vagina and cervix or a needle is inserted through the abdomen to collect the tissue sample. The sample is then analyzed for genetic disorders or chromosomal abnormalities, such as Down syndrome. CVS is typically done between the 10th and 13th weeks of pregnancy and can provide early information about the baby's health, but it also involves some risks, including a small chance of miscarriage.

Fetal echocardiography is a specialized ultrasound test used to examine the heart of a developing baby while still in the womb. This test provides detailed images of the baby's heart, allowing doctors to check for any structural or functional problems. It is often done if there are concerns about the baby's heart health, such as a family history of heart conditions or abnormalities seen in other scans. Fetal echocardiography helps in diagnosing and planning treatment for heart issues before birth, aiming to ensure the best possible care for the baby.

Obstetrical ultrasound is a type of ultrasound imaging used during pregnancy to monitor the health and development of the baby and the mother's reproductive organs. It uses sound waves to create images of the baby, the placenta, and the amniotic fluid inside the womb. This test helps in checking the baby's growth, confirming the due date, and identifying any potential issues with the pregnancy. Obstetrical ultrasound is commonly used throughout pregnancy to ensure everything is progressing normally and to evaluate the baby's well-being.

Quadruple screening is a blood test performed during pregnancy to evaluate the risk of certain problems present at birth. It measures four substances in the mother's blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), estriol (uE3), and inhibin A. These substances are produced by the baby and the placenta. The results help guess the likelihood of conditions like Down syndrome and neural tube defects, which are serious issues affecting the spine and brain development. If the levels are abnormal, additional testing may be needed for a clearer diagnosis.

Cell-Free DNA Screening (cfDNA screening) is a test done during pregnancy that does not involve any surgery or needles and analyzes small parts of the baby's DNA circulating in the mother's blood. This test is used to evaluate the risk of certain genetic conditions in the baby, such as Down syndrome, trisomy 18, and trisomy 13. By examining this DNA, which comes from the placenta, the test provides information about potential genetic abnormalities. It is typically offered to pregnant women who are at higher risk for these conditions or who want additional information about their baby’s health.

A prenatal ultrasound is a medical imaging technique used during pregnancy to create pictures of the baby inside the womb. This test uses sound waves to produce real-time images of the baby, the placenta, and the amniotic sac. It helps monitor the baby's growth, check the baby's heartbeat, and identify any potential issues with the baby's development. Prenatal ultrasounds are commonly used to evaluate the baby’s health, determine the due date, and ensure that the pregnancy is progressing normally.

Cordocentesis, also known as percutaneous umbilical blood sampling (PUBS), is a test done during pregnancy to examine the baby's blood. In this test, a thin needle is inserted through the mother's abdomen and into the umbilical cord, which is the tube that connects the baby to the placenta, to obtain a sample of the baby's blood. This sample is then analyzed to check for genetic conditions, infections, or blood disorders. Cordocentesis is usually performed when there are concerns about the baby's health that other tests cannot address, and it helps provide more detailed information about the baby’s condition.

Nuchal translucency screening (NT screening) is a test performed during the first trimester of pregnancy to evaluate the risk of certain genetic conditions in the baby. It involves an ultrasound examination to measure the thickness of the fluid-filled space at the back of the baby's neck, known as the nuchal translucency. Increased thickness in this area may suggest a higher risk of chromosomal abnormalities such as Down syndrome or other conditions. The test is usually combined with a blood test to provide a more accurate risk evaluation. It is commonly offered to pregnant women as part of routine pregnancy care to help evaluate the baby's health and decide id further testing is necessary.

A sonogram is an image created using ultrasound technology, which uses sound waves to view the inside of the body. During a sonogram, extremely fast sound waves are sent into the body through a small device called a transducer. These sound waves bounce off internal tissues and organs, and the returning echoes are used to create a visual image on a monitor. Sonograms are commonly used during pregnancy to monitor the development of the baby, but they can also be used to examine other areas of the body, such as the heart, abdomen, or pelvic region, to evaluate and diagnose various conditions.