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Nuchal scanning alone detects 62% of all Down syndrome (sensitivity) with a false positive rate of 5.0%; the combination with blood testing gives corresponding values of 73% and 4.7%. [ 12 ] 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% ...
Benacerraf pioneered the field of "genetic sonography" [3] with her discovery that nuchal fold thickness–the distance between the occipital bone and the surface of the overlying skin at back of the neck–was a reliable metric for second-trimester diagnosis of Down syndrome.
Perhaps the most common such test uses a measurement of the nuchal translucency thickness ("NT-test", or "Nuchal Scan"). Although 91% of fetuses affected by Down syndrome exhibit this defect, 5% of fetuses flagged by the test do not have Down syndrome. Ultrasound may also detect fetal organ anomaly.
Lindsey Wiggins tells PEOPLE she had some inklings that her daughter might have Down syndrome, but "broke down" when a doctor suggested tests at 4 months old Mom in Tears After 4-Month-Old Is ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Ultrasound imaging provides the opportunity to conduct a nuchal translucency (NT) scan screening for chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Using the information from the NT scan the mother can be offered an invasive diagnostic test for fetal chromosomal ...
“In the most common type of Down syndrome, there are 47 chromosomes, with the extra one being chromosome 21 — so the patient has three No. 21 chromosomes in all the cells of their body ...
A nuchal cord is when the umbilical cord becomes wrapped around the fetus's neck. [1] Symptoms present in the baby shortly after birth from a prior nuchal cord may include duskiness of face, facial petechia, and bleeding in the whites of the eye. [1] Complications can include meconium, respiratory distress, anemia, and stillbirth. [1]