Scienza medica - Test genetici e prenatali

a genetic test that identifies mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancers

test genetico per il cancro al seno

a gene associated with increased risk of breast and ovarian cancers due to mutations, making it important in cancer genetics and testing

gene del cancro al seno 1

a gene linked to increased risk of breast and ovarian cancers due to mutations, important in cancer genetics and testing

gene del cancro al seno 2

genetic testing to identify individuals who carry gene mutations for certain conditions, informing reproductive decision-making

screening dei portatori

a laboratory test that examines an individual's chromosomes to detect genetic abnormalities such as chromosomal disorders and syndromes

test del cariotipo

a gene associated with increased risk of health conditions such as cardiovascular disease, neural tube defects, and psychiatric disorders due to specific mutations

metilenotetraidrofolato reduttasi

(genetics) a basic unit of heredity and a sequence of nucleotides in DNA that is located on a chromosome in a cell and controls a particular quality

gene

(biochemistry) a chemical substance that carries the genetic information, which is present in every cell and some viruses

DNA

a very small threadlike structure in a living organism that carries the genes and genetic information

cromosoma

a genetic change that can affect chromosome structure or number, leading to variations in gene expression and potential genetic disorders

mutazione cromosomica

a genetic test that identifies mutations in the MTHFR gene to assess an individual's risk for health conditions

test genetico del gene MTHFR

a type of genetic testing that analyzes an individual's genetic makeup to assess how their genes may impact their response to certain medications

test farmacogenetico

a tumor suppressor gene associated with increased cancer risk due to mutations, important in cancer genetics and testing

gene PTEN

a genetic test identifies mutations in the PTEN gene to assess an individual's risk for associated conditions such as cancers and other health conditions

test genetico PTEN

a tumor suppressor gene associated with increased cancer risk due to mutations, important in cancer genetics and testing

gene P53 della proteina tumorale

a genetic test that identifies mutations in the TP53 gene to assess an individual's risk for associated conditions such as cancers and other health conditions

test genetico della proteina tumorale P53

a complex biological structure essential for cellular functions in living organisms, made up of amino acid chains

molecola di proteina

a visual display of an individual's chromosomes, used for genetic analysis and identifying abnormalities

cariotipo

genetic testing on embryos during IVF to screen for genetic conditions or abnormalities prior to implantation

test genetici preimpianto

a test to check the baby's health by taking a small amount of fluid from around the baby before birth

amniocentesi

a test done during pregnancy that involves taking a small sample of tissue from the developing pregnancy to check for genetic issues in the baby

campionamento dei villi coriali

a specialized ultrasound examination that assesses the heart of a developing fetus in utero for any potential structural or functional abnormalities

ecocardiografia fetale

a medical imaging technique used to visualize the developing fetus, assess fetal growth, identify abnormalities, and evaluate maternal reproductive organs during pregnancy

ecografia ostetrica

a prenatal blood test that assesses the risk of chromosomal disorders in the fetus by measuring four markers in the mother's blood

screening quadruplo

a non-invasive prenatal test that analyzes fetal DNA in the mother's blood to screen for chromosomal abnormalities with high accuracy

Screening di DNA libero da cellule

a medical test that uses sound waves to create pictures of a growing baby inside a pregnant woman's uterus to check for any potential problems

ultrasonografia prenatale

a prenatal procedure that involves withdrawing a small sample of fetal blood from the umbilical cord for diagnostic purposes

cordocentesi

a prenatal test that measures fetal neck thickness to assess chromosomal abnormalities during early pregnancy

screening della translucenza nucale

a medical image taken using sound waves, commonly used in pregnancy to monitor fetal development

sonogramma

a medical imaging method using sound waves for real-time visual examinations of the body's internal structures

sonografia