Laboratory procedure in which cells taken from a pregnant woman are used to see if the fetus has an abnormal condition such as CS or XP. Prenatal diagnosis for CS and XP is not available in the US but is provided by laboratories in Europe. Hair Research Center, University of California San Francisco, 350 Parnassus Ave., Suite 505, San Francisco CA 94117; (415) 476-3636 phone, fax 476-3686. Performs hair amino acid analysis to assist in diagnosis of suspected TTD patients, and provides clinical advice for cases of TTD.
The detection of fetal abnormalities during pregnancy (see Genetics Fact Sheet 15: Prenatal Testing and Screening For Fetal Abnormalities).
Detection of abnormalities and disease conditions while a fetus is developing in the uterus. Many techniques for prenatal diagnosis, such as chorionic villus sampling and amniocentesis, require sampling placental tissue or fetal cells found in the amniotic fluid or fetomaternal circulation. Others, such as ultrasonography, can be performed without cell or tissue samples.
the diagnosis of a disease in an unborn baby
any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality
Biochemical, genetic or ultrasound test performed during pregnancy, to determine if a fetus is affected by a particular disorder.
tests (amniocentesis, ultrasound, chorionic villus sampling (CVS)) used to diagnosis medical conditions in pregnancy
tests done during pregnancy to detect fetal abnormalities. Some tests are for screening, determining whether a pregnancy is at higher or lower risk, such as the expanded AFP blood test. Other tests—like amniocentesis—are diagnostic, telling for certain whether the fetus is affected.
Genetic testing of a fetus that is done when there is believed to be a risk of the child developing genes associated with mental retardation or physical deterioration. (Down Syndrome is one of the most common genetic diseases screened by this method.)
The examination of fetal cells taken from an unborn fetus for biochemical, chromosomal, or gene alterations.
examining fetal cells taken from the amniotic fluid or the umbilical cord for evidence of disease.
Procedures and tests which diagnose birth defects before the baby is born.
used to diagnose a genetic disease or condition in the developing fetus.
(synonym: prenatal testing) Testing performed during pregnancy to determine if a fetus is affected with a particular disorder. Chorionic villus sampling (CVS), amniocentesis, periumbilical blood sampling (PUBS), ultrasound, and fetoscopy are examples of procedures used either to obtain a sample for testing or to evaluate fetal anatomy. Related Terms: diagnostic testing ; screening
examining fetal cells taken from the amniotic fluid, the primitive placenta (chorion), or the umbilical cord for biochemical, chromosomal, or gene alterations.
the examination of cells from a fetus (usually obtained from the amniotic fluid surrounding the fetus, the placenta, or the umbilical cord) to search for alterations which might be associated with disease.
Examining fetal cells from the amniotic fluid, the placenta, or fetal blood for alterations in the genes or chromosomes before birth.
Diagnosis of a condition before birth, done by examining cells from the amniotic fluid, placenta, or umbilical cord for biochemical, chromosomal, or gene alterations.
Tests used during pregnancy to identify and diagnose an abnormality. In DS this will usually follow a screening procedure which suggests a higher risk but mothers over 35 may be directly referred for diagnosis because of the higher risk in these age groups. Commonly the diagnosis has been based on chromosome analysis for Down syndrome. The advances in DNA analysis will mean an increasing proportion will be initially analysed using a DNA technique such as FISH (Fluorescent In situ hybridisation) or PCR (polymerase chain reaction) related techniques. Normally the result will be confirmed using chromosome studies.
medical practices intended to detect a disorder of special importance in the embryo or foetus during pregnancy. It must be preceded by a genetic counselling consultation.
Prenatal diagnosis is the diagnosis of disease or condition in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, chromosome abnormalities, genetic diseases and other conditions. It can also be used to determine the gender of the unborn baby.
