![]() ![]() Examples of conditions that may be detected include chromosomal abnormalities such as common aneuploidies like trisomy 13, trisomy 18, trisomy 21, Turner syndrome, and Klinefelter syndrome. Īnalysis of samples obtained from amniocentesis is accomplished via karyotyping and DNA analysis technology. Factors that may place patients at increased risk of fetal genetic disorders include older maternal or paternal age, parental carrier of a balanced chromosomal rearrangement, parental aneuploidy or aneuploidy mosaicism, parental carrier of a genetic disorder, prior child with a structural birth defect, previous fetus or child with autosomal trisomy or sex chromosome aneuploidy, ultrasonographic evidence of a fetus with structural abnormalities, and a high-risk genetic screening test result. Īmniocentesis may be offered to certain patients at higher risks of having a fetus with a genetic disorder. When deciding on whether to perform invasive genetic diagnostic testing such as amniocentesis, patients and their physicians should participate in a shared-decision-making process that takes into account a patient's individual risk profile and preferences. It is important to note that prenatal genetic testing cannot identify all possible fetal genetic abnormalities or their outcomes. Transabdominal chorionic villus sampling is an alternative to amniocentesis if genetic diagnostic testing is to be performed in the first trimester between 10 and 15 weeks' gestation. Amniocentesis or chorionic villus sampling are necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. Amniocentesis, along with chorionic villus sampling, are examples of prenatal diagnostic tests. Prenatal genetic screening is intended to identify patients who are at increased risk of having a fetus with a genetic condition while prenatal genetic diagnostic testing detects whether a specific genetic condition is present in the fetus with high accuracy. The American College of Obstetricians and Gynecologists recommend that all women be offered prenatal assessment for aneuploidy by either genetic screening or diagnostic testing independent of maternal age or risk factors. Medical uses Īmniocentesis may be performed for both diagnostic and therapeutic reasons.ĭiagnostic indications Genetic diagnosis Physicians have used the process of inserting a needle transabdominally into the uterus to extract amniotic fluid for the management of hydramnios, or excess amniotic fluid, as early as the late 1800s. ![]() There are relative contraindications to performing an amniocentesis, however no absolute contraindications have been identified. However, the American College of Obstetricians and Gynecologists recommend that all women be offered prenatal assessment for aneuploidy, or the presence of an abnormal number of chromosomes, by either genetic screening or diagnostic testing independent of maternal age or risk factors. 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. Īn amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic abnormalities. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. 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. It has other uses such as in the assessment of infection and fetal lung maturity. Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. ![]()
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