Aneuploidy Screening


Everything You Need to Know About Aneuploidy Screening in Pregnancy


What is Aneuploidy and How Does it Affect Prenatal Health.?

● One of the main concerns is the possibility of false positives with aneuploidy screening. False positives can lead to unnecessary stress and anxiety for expecting parents, as well as additional testing and procedures that may not be necessary.

● Fetal ultrasound is a diagnostic technique that uses high-frequency sound waves and a computer to view the fetus inside the womb. It is usually performed in the second trimester, though it may be done as early as 10 weeks gestation. Ultrasound pictures can assist with determining whether or not a fetus has congenital abnormalities or other serious problems, like an undeveloped brain. Ultrasounds are typically performed by either an OB/GYN, pediatrician or technician. False positives can occur with any test, but particularly with ultrasound when there are multiple negative screening tests due to increased variability in fetal development. Nuchal translucency screening may sometimes detect a possible fetal chromosomal abnormality. A false-positive result can occur when a woman who has the abnormality actually has the condition resolved before the pregnancy test, or in some cases, the fetus develops to an extent where it can't be detected by this type of screening. The false-positive rate for nuchal translucency is typically between 6% and 10%, so doctors will usually not perform invasive testing when there are multiple negative screening tests.

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