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| down syndrome symptoms in pregnancy |
According to National Center for Biotechnology Information, the definition of Down syndrome is a genetic condition in which a person has 47 chromosomes, instead of the usual 46. Mostly, Down syndrome happens when there is an excess copy of chromosome number 21, that called as Trisomy 21. This disorder has many impacts on the body and brain developmental.
Down syndrome symptoms
The symptoms of Down syndrome is very variable, and can be mild or severe. Children with Down syndrome have a recognized characteristic appearance, such as: smaller had with abnormal shape, the inner cornea may be rounded not pointed. Another Down syndrome symptoms are: decreased muscle tone at birth, flat nose, small ears, small mouth, separated joints between skull bones, short hands, short fingers, and white spots on the central eye called Brushfield spots. Children with Down syndrome have a slower physical, social, and mental development. They tend to have impulsive behavior and poor judgment.
Down syndrome symptoms in pregnancy
Diagnosis of Down syndrome can be made through 2 ways: directly after birth as described above or while pregnancy. Nowadays, technology is very helpful for us to improve methods of fetal abnormalities early detection. How to diagnose Down syndrome will be described below:
- Obtaining fetal tissue samples through amniocentesis and chorionic villi sampling (CVS). They are better to be done in 10-12 weeks of pregnancy.
- USG findings: fetus with Down syndrome sometime (not always) show some characteristics signs on USG, such as: decreased femur length, increased skin behind the neck, and choroid plexus cysts.
- Maternal serum testings. These tests are better to be done in 15-18 weeks of pregnancy.
- Alpha fetoprotein. The level will decrease in mother with Down syndrome fetus.
- Estriol. It is also decreased in the Down syndrome pregnancy.
- HCG (human chorionic gonadotropin). It is increased in the Down syndrome pregnancy.
- Inhibin A. It is also increased.
- PAPP-A (pregnancy associated plasma protein A). In the first trimester, low level of PAPP-A is found in Down syndrome pregnancy.
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