Percutaneous umbilical cord blood sampling (PUBS), also called cordocentesis, fetal blood sampling, or umbilical vein sampling is a diagnostic genetic test that examines blood from the fetal umbilical cord to detect fetal abnormalities. Fetal and maternal blood supply are typically connected in utero with one vein and two arteries to the fetus. The umbilical vein is responsible for delivering oxygen rich blood to the fetus from the mother; the umbilical arteries are responsible for removing oxygen poor blood from the fetus. This allows for the fetus’ tissues to properly perfuse. PUBS provides a means of rapid chromosome analysis and is useful when information cannot be obtained through amniocentesis, chorionic villus sampling, or ultrasound (or if the results of these tests were inconclusive); this test carries a significant risk of complication and is typically reserved for pregnancies determined to be at high risk for genetic defect. It has been used with mothers with immune thrombocytopenic purpura.
PUBS is a type of fetal blood sampling which was originally developed to determine the presence of hereditary abnormalities. Currently, it can detect a number of abnormalities including pH levels, oxygen levels, chromosomal issues, and infections. In 1958, James L.S. recognised that umbilical cord blood gas analysis can give an indication of preceding fetal hypoxic stress. It has since become widely accepted that umbilical cord blood gas analysis can provide important information about the past, present and possibly the future condition of the infant. PUBS dates back to 1964 when Freda and Adamsons reported the removal of a uterus containing a fetus who had a buildup of fluid and ended up dying; however, this was one of the first procedures that showed promise for current day PUBS. Valenti hypothesized in 1972 that the procedure he used to obtain fetal tissue could be used to obtain fetal blood, and in 1973, he was able to sample fetal vessels; fetoscopy was used and refined between 1974 and 1983 as a prenatal test to determine fetal status as well as obtain fetal blood and perform transfusions in some cases.
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Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling.
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman.
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable.
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