Antenatal Screening Tests For Chromosomal Abnormalities

Pregnancy is a joyful journey for every new parent, filled with excitement and a fair share of questions and concerns. The primary concern most expectant parents worry about the most is their little one’s well-being, especially their genetic health. However, thanks to advances in fetal medicine, you now have a number of antenatal screening and diagnostic tests to learn about the baby’s state of health.

But how do these tests work? What are their purposes? Let us discuss everything you need to know about Antenatal screening tests for chromosomal abnormalities!

What are the Antenatal Screening Tests for Chromosomal Abnormalities?

Antenatal screening tests are the types of tests that you will have during your pregnancy. These tests will help you and your healthcare provider find out how likely it is that your baby will have chromosomal anomalies or other conditions. Your healthcare provider will recommend these tests during pregnancy if you have a family history of certain chromosomal anomalies. The types of antenatal screening are:

Non-Invasive Prenatal Testing (NIPT)

NIPT, or cell-free DNA testing (cfDNA), involves a simple blood test. A small amount of your blood, which has DNA from your placenta, will be tested. The test can be performed from the 10th week of your pregnancy.

Combined First Trimester Screening (CFTS)

CFTS involves a blood test from you and an accurate measurement from your 12-week ultrasound in pregnancy. The blood test can be performed between 8 and 12 weeks to measure the levels of two different hormones that are present naturally in your blood. If you decide to have the CFTS, your healthcare provider will measure the back of your baby’s neck. The measurement is called the nuchal translucency.

Second Trimester Maternal Serum Screening

During the second trimester of maternal serum screening, your blood will be tested for hormones from your placenta and from your little one. In the healthy pregnancy guide, you can use the level of the hormones, your baby’s gestational age, and your age and weight to estimate the chance of your little one having specific chromosomal anomalies. The test can be performed at 14-20 weeks of pregnancy and is especially used to detect if the baby has neural tube defects like spina bifida.

Chorionic Villus Sampling (CVS)

CVS is used to test a sample of the placenta collected from your uterus. During the test, your healthcare professional will give you a local anaesthetic. Then, they will use an ultrasound to guide a thin needle into your uterus to collect the sample. The diagnostic test is usually done between 11 and 14 weeks of pregnancy. Despite the benefits, CVS has a minimal risk of miscarriage. Make sure to discuss your risks with your healthcare provider or genetic counsellor.

Amniocentesis

Amniocentesis is often suggested as an alternative to CVS if you have a high risk of CVS or if the results aren't clear. The test is carried out by taking a sample of the fluid that surrounds your baby in the uterus.

Benefits of Antenatal Screening Tests

Antenatal chromosomal testing has transformed the way we approach pregnancy, offering potential insights into your baby’s genetic health. Here’s how it helps you in your pregnancy care:

• Early detection of chromosomal abnormalities in pregnancy, like Down syndrome or Edwards syndrome, in the first trimester gives you more time to prepare.

• Personalised pregnancy management with early diagnosis and arranged specialised care to monitor the baby’s growth and development.

• Informed decision-making among parents that aligns with their values and circumstances.

Wrapping Up - Secure Your Child’s Life Later in the Future

Advances in technology have revolutionised antenatal screening tests for chromosomal abnormalities, making them more accurate, accessible, and less invasive. From the advent of NIPT to ultrasound techniques, you have more options than ever before to ensure the well-being of your little one. Remember, every pregnancy stage is unique, and by trusting your healthcare provider, you are taking a proactive step to ensure the best possible outcome for your little one.

Now, if you are expecting or planning a pregnancy, don't hesitate to consider stem cell banking to make all the difference in your journey towards parenthood. At Cryoviva, we offer the best stem cell banking services to collect and preserve your baby's stem cells, assuring lifelong well-being.