A healthy human being has a total of 46 chromosomes that is made into 23 pairs. This is a basic aspect which determines every single part and parcel of a person right from appearance to behavior. Aneuploidy is defined as a broad spectrum of conditions which appear as a result of extra chromosome or absence of a chromosome. Unfortunately, Aneuploidy discrepancies are not rare, they are seen to appear in one off every hundred and fifty pregnancies and also is the major contributor to loss of early pregnancy. The presence of extra chromosome is referred to as TRISOMIES and lack of chromosome is referred to as MONOSOMY. Consult fertility doctors in Guntur for fertility treatment.
Risks associated with Aneuploidy are:
- Pregnancy might not be able to continue until full term
- Child if born might have lower intellectuals.
- Child born with congenital defects
- Spectrum of functional abnormalities might be present in the child.
Aneuploidy is not always due to genetic factors but can also at times be caused by chance or randomly. Down’s Syndrome is one of the most common disorder due to Aneuploidy, this is due to the presence of an extra chromosome in the 21st pair of chromosomes,that is why down's syndrome is also called as trisomy 21. Aneuploidy screening is recommended immaterial of the maternal age, even though it is a well known fact that pregnancy post 35 years of age does have a higher inclination of genetic disorders however since the abnormality in chromosomes if any is present in the early stages of pregnancy itself, women are advised to get this screening done in the first couple of assessments itself.
The screening:
Aneuploidy screening in Guntur is not as complicated as it sounds, is a simple method which combines the NT scan measurements to determine any markers present as well as with the help of a blood test at gynaecology hospitals in Guntur. The blood sample collected from the mother is used for the Fetal cell-free DNA testing which helps detecting the presence of extra chromosome or to detect the absence of a chromosome.
The Aneuploidy screening done in the first trimester by fetal medicine doctors in Guntur between 11+5 - 13+5 weeks is to rule put trisomies which is efficient in detection upto 87% whereas the screening done in second trimester between 15 to 20 weeks helps to detect trisomies with a efficacy of upto 81%. Further follow up diagnostic tests and assessments at aneuploidy screening hospital in Guntur might be required in order to confirm on the issues. Getting the test done is completely a choice however sometimes your specialist may recommend getting it done.