Down Syndrome

Downs syndrome is a birth defect caused by trisomy of 21. It is most important genetic disease prevalent world-wide.

Incidence is high 1 in 400-1400 newborns. Therefore screening provides important part in prenatal case. For this non incentive screening developed for early diagnosis. Treatment and pretension of morbidity.

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Causes

It is caused by an error in cell divison leads to an ambryo with three copies of chromosome 21.
Familiar down syndrome is also noted.
Some user use inherited by mysticism.

Risk Factors

For couples who have one child with down syndrome due to translocation trisomy 21, there one chances that future children will have down syndrome.

Symptoms

Single palmas increase mental retardation.
Hypotonics larger protruding tongue.
B small mase with low bridge, low set cars, short thick neck.
Congted heart disease.
Epicanthic fold.
Congenital cuteeseect.
Strabismus muopiu.
Squint.
Infertile glassccessa.

Prevention

Early screening method during anthenesfeel period present the outecune.

How is it diagnosed?

Dual test: Sinuous his and pappa measurement
- Positive: this is more than accepted.
- Pappa is less than excepted.
Combined test: It include dual a positive timing natal temporary nt is done between 11 to 13 weeks to diagnosed DS.
- Kamotyping is done in first crimester in which chorionic villas sculpting is talkew.
- Second trimester screening for down syndrome known as cluedruple test which is donw between 15-22 wle. It includes 4 compounded HCC, d Feto pro UE3 IUhibin A.
- Positive screening test shows: HCCe 1, AFP UE3 inhibin A.
- If second test screening is positive then do ammiosentesis done after greater than 15 week sample include deserved broblest and aminocytes, result come within 10-14 days, fish can be used for faster result.
Cordocentesis: Perutaneaus blood sample is taken from umbilical vein.
Non invasive pre-natal test is also used: In these months, blood has cell free fetal DNA which is circulating in the blood source is apoptosis of plueenful cells. It is not diagnostic test.
Integrated test: first screening test second test screening use for NT.

How is it treated?

There is no medical treatment available but early medical support and development interventions use speech thercipy, phyopces therapy work related therapy can present morbidify.

Curliece surgery
Vaccination
Utibitic
Thyroid hormones, etc. improves the quality of life.

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