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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.
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]
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 ...
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 ...
Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. Maternal blood is sampled by venipuncture . Analysis of cffDNA is a method of non-invasive prenatal diagnosis frequently ordered for pregnant women of advanced age .
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.
Disease testing: A complement to specific gene testing for monogenic disorders, which can be very useful for genetic diseases with sex linkage, such as, for example, X-linked diseases. In such cases, it may be much easier to exclude the possibility of disease in the child by prenatal sex discernment than to test for any specific sign of the ...
Some tests, like those for GJB2 mutations linked to hereditary deafness, might lead to requests for PGD to avoid or favor these traits. Ethical concerns include potential harm to affected communities, such as the deaf. Similar questions would arise with a genetic test for sexual orientation, raising concerns about discrimination.