La science médicale - Test génétique et prénatal

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 génétique du cancer du sein

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

gène du cancer du sein 1

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

gène du cancer du sein 2

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

dépistage des porteurs

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

test caryotypique

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

réductase de méthylènététrahydrofolate

(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

gène

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

ADN

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

chromosome

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

mutation chromosomique

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

test génétique du gène 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 pharmacogénétique

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

gène 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 génétique PTEN

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

gène P53 de la protéine 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 génétique de la protéine tumorale P53

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

molécule de protéine

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

caryotype

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

tests génétiques préimplantatoires

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

amniocentèse

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

prélèvement de villosités choriales

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

échocardiographie fœtale

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

échographie obstétricale

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

dépistage quadruple

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

Dépistage d'ADN libre de cellules

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

échographie prénatale

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

cordocentèse

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

dépistage de la translucence nuchale

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

sonogramme

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

sonographie