Chromosomes are part of the genes that determine how a baby's body forms and functions during pregnancy and after birth. One of the most common chromosomal abnormalities or abnormalities is Down Syndrome, where in Down Syndrome there is an excess of chromosome 21.

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2 (two) types of tests that can be performed to detect Down Syndrome during pregnancy, namely Screening Tests and Diagnostic Tests.

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Screening tests do not provide an absolute diagnosis, but are safer for both mother and baby.
Diagnostic tests can detect whether a baby has Down syndrome or not, but this test is more risky for both mother and baby.

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- Types of Screening Tests include blood tests:
MS-AFP (Maternal Serum Alpha Fetoprotein), PAPP-A (Pregnancy-associated Plasma Protein A) & Free Beta-HCG, NIPT (Non Invasive Prenatal Testing) and ultrasound.
Diagnostic Tests are performed after Screening Tests show positive results.
- Types of Diagnostic Tests include:
CVS, Amniocentesis, PUBS.
a diagnostic test is carried out after knowing the results of the screening test show a positive result

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Consult your obstetrician if there are risk factors for pregnancy that lead to Down Syndrome and do the recommended tests to get an early diagnosis to prepare the best for the baby.

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Author : dr. Sendy Odhista (PramITA Clinical Laboratory Medical Consultant Doctor Jl. Cik Ditiro No. 17 Yogyakarta)