Down syndrome is something a person is born with it. No one gets Down syndrome later in life. It’s one of the most common genetic birth defects (a birth defect is a problem that happens while a baby is still growing inside their mother). Now you know that Down syndrome is caused by a problem with a chromosome.
Can Down syndrome go undetected?
DSA|OC :: Down Syndrome Association Of Orange County
The most common reason for this late diagnosis is the lack of knowledge in the medical field on this rare form of Down syndrome. However, many individuals can go undiagnosed up into adulthood and there are still thousands who never receive a diagnosis.
Can someone have Down syndrome and look normal?
Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome – the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.
How late can Down syndrome be diagnosed?
It’s usually done between the 10th and 13th week of pregnancy. Percutaneous umbilical blood sampling (PUBS), which takes a blood sample from the umbilical cord. PUBS gives the most accurate diagnosis of Down syndrome during pregnancy, but it can’t be done until late in pregnancy, between the 18th and 22nd week.
Can ultrasound detect Down syndrome?
An ultrasound can detect fluid at the back of a fetus’s neck, which sometimes indicates Down syndrome. The ultrasound test is called measurement of nuchal translucency.
What are the signs of Down syndrome during pregnancy?
Some common physical signs of Down syndrome include:
- Flat face with an upward slant to the eyes.
- Short neck.
- Abnormally shaped or small ears.
- Protruding tongue.
- Small head.
- Deep crease in the palm of the hand with relatively short fingers.
- White spots in the iris of the eye.
Do Down syndrome babies cry differently?
Just like any baby, infants who have Down syndrome will sometimes be fussy. The temperament of a baby with Down syndrome is not usually any different from the temperament of any other baby.