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Screening tests can then include serum analyte screening or cell-free fetal DNA, and nuchal translucency ultrasound [NT], respectively. [60] It is important to note that screening tests are not diagnostic, and concerning screening results should be followed up with invasive diagnostic testing for a confirmed diagnosis.
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 ...
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 ...
A biophysical profile (BPP) is a prenatal ultrasound evaluation of fetal well-being involving a scoring system, [1] with the score being termed Manning's score. [2] It is often done when a non-stress test (NST) is non reactive, or for other obstetrical indications. The "modified biophysical profile" consists of the NST and amniotic fluid index ...
Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. [1] [2] [3] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. [4]
During this method of prenatal testing, a sample of chorionic villi is removed from the placenta to be tested. This test is performed 10–13 weeks into pregnancy and results are ready 7–14 days after the test was done. [18] Another test using blood taken from the fetal umbilical cord is percutaneous umbilical cord blood sampling.
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 MoM for a test result for a patient can be determined by the following: = () As an example, Alpha-fetoprotein (AFP) testing is used to screen for a neural tube defect (NTD) during the second trimester of pregnancy. If the median AFP result at 16 weeks of gestation is 30 ng/mL and a pregnant woman's AFP result at that same gestational age is ...