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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 that focus on detecting problems with the pregnancy as early as possible. [1]
An example of an algorithm for determining the indication for prenatal genetic testing for trisomy 21 (Down syndrome), wherein the genetic blood test (in center) is performed by detecting cffDNA in a blood sample from the mother. [60] Trisomy 21. Fetal trisomy of chromosome 21 is the cause of Down's syndrome.
An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. [5] Women who choose to have this test are primarily those at increased risk for genetic and chromosomal problems, in part because the test is invasive and carries a small risk of pregnancy loss. [5]
Preimplantation genetic testing tests IVF embryos before pregnancy and Preimplantation genetic screening screens non-IVF embryos for aneuploidy. Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes. [4]
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
Prenatal care in the United States is a health care preventive care protocol recommended to women with the goal to provide regular check-ups that allow obstetricians-gynecologists, family medicine physicians, or midwives to detect, treat and prevent potential health problems throughout the course of pregnancy while promoting healthy lifestyles that benefit both mother and child. [1]
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Routine tests in the first trimester of pregnancy generally include: Complete blood count; Blood type. Rh-negative antenatal patients should receive RhoGAM at 28 weeks to prevent Rh disease. Indirect Coombs test (AGT) to assess risk of hemolytic disease of the newborn [5] Rapid plasma reagin test to screen for syphilis; Rubella antibody screen [6]
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