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 that focus on detecting problems with the pregnancy as early as possible.[1] 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. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Prenatal screening focuses on finding problems among a large population with affordable and noninvasive methods. Prenatal diagnosis focuses on pursuing additional detailed information once a particular problem has been found, and can sometimes be more invasive. The most common screening procedures are routine ultrasounds, blood tests, and blood pressure measurement. Common diagnosis procedures include amniocentesis and chorionic villus sampling. In some cases, the tests are administered to determine if the fetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive appropriate care.
Prenatal testing in recent years has been moving towards non-invasive methods to determine the fetal risk for genetic disorders. The rapid advancement of modern high-performance molecular technologies along with the discovery of cell-free fetal DNA (cffDNA) in maternal plasma has led to new methods for the determination of fetal chromosomal aneuploidies. This type of testing is referred to as non-invasive prenatal testing (NIPT) or as non-invasive prenatal screening. Invasive procedures remain important, though, especially for their diagnostic value in confirming positive non-invasive findings and detecting genetic disorders.[3] Birth defects have an occurrence between 1 and 6%.[4]
^"Prenatal Testing". MedlinePlus.
^Diagram by Mikael Häggström, MD, using following source: Jacquelyn V Halliday; Geralyn M Messerlian; Glenn E Palomaki. "Patient education: Should I have a screening test for Down syndrome during pregnancy? (Beyond the Basics)". UpToDate. This topic last updated: Feb 16, 2023.
^Pös, Ondrej; Budiš, Jaroslav; Szemes, Tomáš (2019). "Recent trends in prenatal genetic screening and testing". F1000Research. 8: 764. doi:10.12688/f1000research.16837.1. ISSN 2046-1402. PMC 6545823. PMID 31214330.
^Outcomes, Institute of Medicine (US) Committee on Improving Birth; Bale, Judith R.; Stoll, Barbara J.; Lucas, Adetokunbo O. (2003), "Impact and Patterns of Occurrence", Reducing Birth Defects: Meeting the Challenge in the Developing World, National Academies Press (US), retrieved October 1, 2023
Prenataltesting is a tool that can be used to detect some birth defects at various stages prior to birth. Prenataltesting consists of prenatal screening...
Noninvasive prenataltesting (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy...
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring...
Rh factor testing, also known as Rhesus factor testing, is the procedure of determining the Rhesus D status of an individual (see Rh blood group system)...
Genetic tests, including prenataltesting, are available for both confirmed forms. Molecular testing is considered the gold standard of diagnosis. Testing at...
offered prenatal assessment for aneuploidy, or the presence of an abnormal number of chromosomes, by either genetic screening or diagnostic testing independent...
condition. Prenataltesting is diagnostic testing of a fetus before birth to detect abnormalities in the chromosomes or genes. Samples for this testing are obtained...
cells. The indirect Coombs test is used in prenataltesting of pregnant women and in testing prior to a blood transfusion. The test detects antibodies against...
muscular dystrophy. A prenataltest can be considered when the mother is a known or suspected carrier. Prior to invasive testing, determination of the...
Prenatal diagnosis or prenatal screening (note that "Prenatal Diagnosis" and "Prenatal Screening" refer to two different types of tests) is testing for...
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...
neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). Other terms used are fetal alcohol effects (FAE)...
physical defects detected through prenataltesting. Many prenataltests are now considered routine, such as testing for Down syndrome. Women who are discovered...
genetic testing, a 25% chance exists that the child will have FD. For pregnancies at increased risk for FD, preimplantation genetic diagnosis or prenatal diagnosis...
Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time...
spontaneous mutation. The incidence of NF-1 is about 1 in 3500 live births. Prenataltesting may be used to identify the existence of NF-1 in the fetus. For embryos...
Prenatal psychology can be seen as a part of developmental psychology, although historically it was developed in the heterogenous field of psychoanalysis...
SMA-affected embryos during in-vitro fertilisation.[citation needed] Prenataltesting for SMA is possible through chorionic villus sampling, cell-free fetal...
blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenataltesting. Treatment...
punk band Northern Ireland Prison Service Non-Invasive Prenatal Screening, see Prenataltesting Miniature (alcohol) - liquor bottles 50-60 mL NIP (disambiguation)...
definitive testing, which may include a contraction stress test or a biophysical profile. Biophysical profile Cardiotocography Contraction stress test Neonatology :...
although battling with her own testing. Testing was done in Canada, Great Britain and Europe. There are two types of prenataltests being offered as a part of...
A pregnancy test is used to determine whether a female is pregnant or not. The two primary methods are testing for the female pregnancy hormone (human...
is a clinical genetic testing company based in Austin, Texas that specializes in non-invasive, cell-free DNA (cfDNA) testing technology, with a focus...
pre-implantation genetic screening, miscarriage analysis, prenatal and pediatric diagnostics, offering DNA-based testing for the detection of genetic abnormalities beyond...