Various prenatal diagnostic tests and screenings help in determining the chances of chromosomal anomalies in the fetus. It also enables a proper understanding of the health status of the fetus to contribute to effective decision-making and treatment plans during the pregnancy period.
In most cases, genetic screenings are optional but if you have a family history of genetic disorders then it is best to contact a gynae doctor in Siliguri for undergoing a thorough genetic testing. These tests will efficiently detect any possible congenital conditions such as spina bifida, Down syndrome, and Patau syndrome.
Given below are some of the common types of genetic screenings recommended by the gynecologist during pregnancy.
1. Fetal Anatomy Scan
A fetal anatomy scan is also known as the 20-week ultrasound or anomaly scan. This prenatal ultrasound is usually performed to check for any anatomical abnormalities or congenital issues by looking into the physical development of the fetus.
This ultrasound takes precise measurements of all the organs of the baby including the spine, heart, brain, hands, stomach, arms, and chest. The technician can also check the placenta, umbilical cord, and fetus’s heartbeat for an elaborate diagnosis.
2. Non-Invasive Prenatal Testing (NIPT)
NIPT or cell-free fetal DNA screening is another highly recommended genetic testing in Siliguri that detects any abnormal chromosomal number. In this screening test, a blood sample is collected from the pregnant woman to check the fetus’s DNA.
This test performed during the 10th week of the pregnancy can effectively detect various chromosomal abnormalities such as trisomy 18, 21, and 13. Additionally, the disorders that may impact the sex chromosomes such as Klinefelter syndrome and Turner syndrome can also be identified with NIPT.
3. Carrier Screening
Genetic carrier screening is a type of blood test that can be recommended to you as well as your partner. This test can detect any minute abnormalities or changes in your gene that can impact the genetic makeup of your baby.
The single-gene conditions that can be identified with this test are spinal muscular atrophy, cystic fibrosis, and sickle cell anaemia. However, undergoing this test once in your lifetime is enough to rule out the chances of passing any genetic disorders to the baby.
4. Serum Screening
Maternal serum screening is also an effective genetic screening test that can detect various chromosomal disorders. This test is usually done during the 15th and 20th week of the pregnancy period, where a blood sample is collected from the vein for the test.
In this test, the levels of various substances found in the blood of the pregnant woman are tested to detect any genetic defects. Some of such substances include Human chorionic gonadotropin (hCG) and Alpha-fetoprotein (AFP).
5. Nuchal Translucency (NT) Test
NT Test is a type of ultrasound, which is mainly performed during the first trimester of the pregnancy. This highly accurate method aims to measure the levels of fluid present behind the neck of the baby to calculate the risk of the presence of genetic variants. If more fluid is witnessed then it will indicate the risks of developing Edward’s, Patau, or Down syndrome.
Apart from the above-mentioned efficient screening tests, you can also avail yourself of other accurate diagnostic methods by contacting the best genetic doctor in Siliguri. The most beneficial diagnostic tests that the doctor may recommend are chorionic villus sampling and amniocentesis.