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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]
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
While recognizing the aforementioned risks, the American College of Obstetricians and Gynecologists recommend that prenatal screening, or diagnostic testing for aneuploidy via procedures like amniocentesis or chorionic villus sampling, be discussed with and offered to all patients regardless of maternal age or risk profile. [5]
Non-Invasive Prenatal Testing, or NIPT, is a simple blood draw that screens for chromosomal abnormalities of a fetus while still in utero. When this screening was first performed it was used to determine the sex of a fetus, now it is also used to find aneuploidies in fetal DNA. [6]
Such tests show a sensitivity of about 99% and a specificity of more than 99.9%. Therefore, they cannot be regarded as diagnostic procedures but may be used to confirm a positive maternal screening test such as a first trimester screening or ultrasound markers of the condition. [61] [62] Trisomy 13 and 18
If this is the case, the woman may be advised to have a more reliable screen such as cell-free fetal DNA screening or an invasive diagnostic test (such as chorionic villus sampling or amniocentesis). Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was ...
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. [7]
A nonstress test (NST) is a screening test used in pregnancy to assess fetal status by means of the fetal heart rate and its responsiveness. A cardiotocograph is used to monitor the fetal heart rate and presence or absence of uterine contractions. The test is typically termed "reactive" (also "reassuring") or "nonreactive" (also "nonreassuring ...
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