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Prenatal testing. To monitor maternal and fetal health and progression, as well as, detect fetal abnormalities during pregnancy. Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), [1] and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it ...
Meconium is the earliest stool of a mammalian infant resulting from defecation. Unlike later feces, meconium is composed of materials ingested during the time the infant spends in the uterus: intestinal epithelial cells, lanugo, mucus, amniotic fluid, bile, and water. Meconium, unlike later feces, is viscous and sticky like tar – its color ...
Fetal trisomy of chromosome 21 is the cause of Down's syndrome. This trisomy can be detected by analysis of cffDNA from maternal blood by massively parallel shotgun sequencing (MPSS). [61] Another technique is digital analysis of selected regions (DANSR). [61] Such tests show a sensitivity of about 99% and a specificity of more than 99.9%.
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. [1] It has other uses such as in the assessment of infection and fetal lung maturity. [2] Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis ...
Heterozygous carriers of cystic fibrosis can have a raised IRT and it is therefore not diagnostic in isolation. [2] IRT is measured in routine heel-prick blood taken for biochemical screening of all newborn infants born in the UK. This test is one of a number of completed in newborn screening (the "Guthrie Test").
Cell-free fetal DNA (cffDNA) testing – a non-invasive (for the fetus) test. It is performed on a sample of venous blood from the mother, and can provide information about the fetus early in pregnancy. [12] As of 2015 it is the most sensitive and specific screening test for Down syndrome. [13]