A lower PAPP-A level and a higher hCG level could indicate a higher risk for Down syndrome. It is then compared to the woman’s age, weight and gestational age (how far along she is in pregnancy). A blood sample is taken, and the level (amount) of PAPP-A (pregnancy-associated plasma protein A) and hCG (human chorionic gonadotropin) present in the bloodstream is measured. This screening is recommended to be performed between the 10th and 14th week of pregnancy. It is a screening tool for the possibility of a baby having a genetic disorder such as spina bifida or Down syndrome. This is done during the 15th and 18th week of pregnancy.
Nuchal Translucency Ultrasound Maternal Serum Alpha FetoproteinĪ maternal serum alpha-fetoprotein screening involves collecting a sample of a pregnant woman’s blood. An increase in thickness may also indicate the presence of other genetic disorders such as heart defects and diaphragmatic hernia. A nuchal fold that is greater than 3 millimeters means that there is an increased risk of Down syndrome. An ultrasound is done in the nuchal fold (a space that is filled with fluid located behind the baby’s neck). The Nuchal translucency ultrasound is performed between the 10th and 12th week of gestation. Screenings For Genetic Disorders Nuchal Translucency Ultrasound Screening For Down Syndrome Testing, unlike screening, will determine of the condition being tested for is present or not. 2īased on the results of a screening, your physician will discuss the options for additional testing. The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women are offered screening, as well as testing, even if there are no risk factors identified. 1 The results of a screening will be used to help you and your physician decide on the next step. These types of errors are referred to as “false positive” and “false negative” results. The results may also indicate that there is nothing abnormal, when there actually is. The results may show that there is an increased chance of something being abnormal, when it isn’t. It is simply a method to identify those who might have a specific condition from those who most likely do not. Screening does not determine a diagnosis.
The purpose of screening is to determine which individuals may have a higher risk factor for the disease or disorder. There is a difference between screening for genetic disorders and testing for genetic disorders. Many decisions regarding screenings are based on her family history. Making Sense Of The Diagnostic Tests During PregnancyĪlthough both screening and testing for genetic disorders are offered to all pregnant women during the course of her prenatal care, there are women who are considered to be at a higher risk for having a baby with a genetic disorder.
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