Prenatal tests are usually performed to check for chromosomal conditions in babies, while in the womb.
How to take these tests?
Prenatal screening is a safe and simple test performed using maternal blood. The screening is performed in the first trimester between 9 and 13 weeks of pregnancy.
Biochemical screening test is a simple screening test done by retrieving blood from the pregnant mother during the first or the second trimester.
It is very safe and detects the probable risk of chromosomal conditions in the baby by tracing the presence of certain protein that may be present in the maternal blood sample.
The basic biochemical screening includes double, triple and quad marker tests that are usually performed in the first and second trimesters.
cfDNA Testing also known as Non- Invasive Prenatal Testing is performed as a second level screening test, if the basic biochemical test result shows a moderate or a high risk for any chromosomal condition.
It is a safe & a non-invasive screening performed from 10 weeks of pregnancy onwards to detect Down syndrome and Edwards & Patau syndrome.
It gives precise results and poses no risk of miscarriage, since it is non-invasive and done using the maternal blood sample, hence recommended world-wide by doctors.
cfDNA is a revolutionary and safe test which may change the course of prenatal screening process.
Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR) is a Cytogenetics diagnostic test that helps to detect chromosomal conditions in babies during pregnancy. This test is performed using the samples collected through amniocentesis or chronic villus sampling procedures.
This test is usually recommended by gynaecologists when the non-invasive screening test results show an increased risk of chromosomal abnormalities.
QF-PCR technology can detect conditions such as Down syndrome, Edwards syndrome & Patau syndrome, sex chromosome aneuploidies, microdeletions and microduplications.
QF-PCR technology is almost entirely automated to give rapid test results within a period of 2 days, thus enables parents and doctors to take a quicker decision.
QF-PCR is internationally recommended as it can effectively identify clinically significant chromosomal conditions.
Though QF-PCR is reliable, it is not a standalone test it needs to be complemented with Karyotyping, the gold standard methodology for confirmation of abnormalities.
Karyotyping is performed with the amniotic fluid sample or the placental fluid sample collected from the pregnant mother.
The chromosomes present in the sample are isolated, cultured and studied under microscope to check for anomalies.
Any variation from the normal chromosomal number and structure will be reported as an abnormality while performing this test.
Karyotyping is a non-targeted test that does not limit to a particular set of conditions but checks for all microscopically visible chromosomal conditions.
Usually, Karyotyping test analysis is performed by trained specialists with years of technical expertise, thus called to be confirmatory.
It may take about 2-3 weeks to get the result since it takes time and extensive labour, to identify chromosomal conditions prenatally.
During pregnancy infection may pass from the mother to the child which can be screened used TORCH Test. It is an acronym of five infectious diseases:<>
The test detects antibodies to these infections using the expectant mother’s blood. The presence of these antibodies indicates a current or recent infection. Your health care provider will initiate a treatment plan for the disease.
A hemoglobinopathy screening is a group of tests that identifies the inherent abnormalities in blood of the unborn baby .<>
The risk of these medical conditions can be detected through Prenatal Haemoglobinopathy Screening using the mother’s blood. This will help the parents and the treating physician to monitor and take necessary medical treatment.
It is a routine prenatal test performed for all pregnant women to check for changes in the squamous cells of<>
the cervix that may lead to cervical cancer if not diagnosed and treated it can be harmful for both the mom and the baby. This test will also check for bacterial infections which can be treated with antibiotics. Pap smear is a safe test for both mother and the baby.
Any infection that the mother is infected with during the pregnancy can have a serious impact of the baby in the womb,<>
if left undetected and treated thus as routine prenatal screening tests doctors prescribe these routine tests. These include blood grouping, Rh typing, Vit D test, Thyroid, HIV, haemoglobin test (check for anemia), VDRL (screening for syphilis) etc.
The result is based on the combination of blood test and ultrasound scan which gives 3 possibilities: low risk, intermediate risk, and high risk.
If your screening results of the routine prenatal test done during the first or second trimester shows a low risk, your doctor may suggest you to avoid any further screening/diagnostic tests. However, these screening tests are not confirmatory, unless a diagnostic test is done it does not mean that your baby has no risk of chromosomal conditions
If the result indicates intermediate risk your doctor may suggest follow-on tests which aim to detect not all but only certain targeted (7 - 12) conditions, which represent 99.9% of clinically relevant conditions seen in unborn babies at this risk level. Tests recommended for intermediate risk level include cfDNA test & diagnostic tests such as QF-PCR and Karyotyping
If the first trimester chromosomal screening test indicates high-risk, your doctor may recommend you to take diagnostic tests such as QF-PCR and Karyotyping. Both the diagnostic tests require samples collected through invasive procedures such as Amniocentesis and Chorionic Villus Sampling
How Accurate is the Screening Result?