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Abnormal first trimester screen results; Increased nuchal translucency or other abnormal ultrasound findings; Family history of a chromosomal abnormality or other genetic disorder; Parents are known carriers for a genetic disorder; Advanced maternal age (maternal age above 35).
The anomaly scan, also sometimes called the anatomy scan, 20-week ultrasound, or level 2 ultrasound, evaluates anatomic structures of the fetus, placenta, and maternal pelvic organs. This scan is an important and common component of routine prenatal care . [ 1 ]
In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% and 4.2% respectively. [13] A further study reported detection of 88% for trisomy 21 (Down syndrome) and 75% for trisomy 18 ( Edwards syndrome ), with a 3.3% false-positive rate. [ 14 ]
Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% ...
Ultrasound is also a common tool for determining viability and location of a pregnancy. Serial ultrasound may be used to identify non-viable pregnancies, as pregnancies that do not grow in size or develop expected structural findings on repeated ultrasounds over a 1–2 week interval may be identified as abnormal. [31]
Ultrasound duplex scanning can provide additional information that may guide therapeutic decisions. The location and severity of arterial narrowings and occlusions can be identified. The vascular sonographer can map disease in lower-extremity segments with great accuracy, though duplex scanning is more time-consuming than other lower-extremity ...
Ultrasound can be used for additional anatomical information for patients with an abnormal kidney function or pancreatic enzymes (pancreatic amylase and pancreatic lipase). Standard measurement of the abdominal aorta [4] It can be used on the abdominal aorta to detect or exclude abdominal aortic aneurysm.
Referral for counseling in a prenatal genetics clinic to discuss risks to the pregnancy (advanced maternal age, teratogen exposure, family history of a genetic disease), test results (abnormal maternal serum screen, abnormal ultrasound), and/or options for prenatal diagnosis (typically non-invasive prenatal screening, diagnostic amniocentesis ...