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How to detect defects during pregnancy

How to detect defects during pregnancy

While you step into a new role of nurturing another life inside of you,
While you plan what to buy for your little munchkin soon to be arriving,
And when you dream of your baby to be the boss baby, you’re planning a lot for the future.

Latika is pregnant for the first time and is very excited about it. She has been reading up lot of articles and books about pregnancy and parenting. She heard from her cousin, about a friend who had a baby with a birth defect. Like all mothers-to-be, now Latika is also concerned.

Will her baby be a healthy one? Is there a way to find out if the baby has a defect or not? What are the tests that can help her find out if her baby is normal?

Before looking into the tests and screenings, the most important thing to know, and understand is that only two or three out of every 100 babies are born with defects.

What is a birth defect?
A birth defect (anomaly, or a congenital abnormality) is a physical malformation that occurs during the developmental stages of the foetus. In some cases the baby is born with one or more physical defects. Although there is no specific cause for these anomalys, they can occur due to:

Chromosomal mismatch
Deficiency of certain nutrients in the mother
Genetic carry forward
An infection the mother is exposed to
A strong drug taken in early pregnancy

What does a birth defect affect?

Usually birth defects are mild, but sometimes they can be severe enough to be a threat to the baby’s life. Birth defects can affect the structure of the baby’s body parts or the functionality. Sometimes even the baby’s organs can be affected during the development of the foetus, i.e; in the first three months of pregnancy. In most developmental malformation cases, the foetus naturally gets aborted. In such cases the foetus is also sent for a karyotype test to find out the cause for the mishap.

Some congenital abnormalities can be detected before the birth with special screening, and ultrasound tests, while some may be detected or even show up at later stages after the baby is born.

[You might be interested in this : What is Birth Defects? Causes of Birth Defects? ]

Screening tests to detect developmental abnormalities

Screening tests during pregnancy are done to asses the percentage of risk for certain birth defects. These tests do not detect the birth defects. There are many tests available that indicate the risks of birth defects. Here are the most common tests done:

Ultrasound Scans: A window to the womb
Ultrasound scanning is a procedure that uses sound waves/energy to create images on the internal organs and structure for any internal body examination.

The advent of the ultrasound scanning technology in the 1970s gave new hope to many. The technology serves the purpose of revealing physical mysteries of unborn babies. Ultrasound scanning provides a clear picture of the baby from an early stage of pregnancy, with signs that reassure, or warn us of the baby’s development and health.

There are different stages of ultrasound screenings done starting from the early stages of pregnancy. 11-14 weeks and 18-22 weeks are the most crucial stages where the development of the foetus takes place.
11-14 weeks: Confirms the age, number of foetuses and the heartbeat.
18-22 weeks: Checks the organs, confirms if the foetus is growing well, or if there are any defects in the foetus.

Maternal serum screening
Maternal serum screening is a first trimester test which is done to detect if there is a higher risk of the baby being born with chromosomal defects like down syndrome or trisomy 18. A long needle is inserted through the mother’s abdomen into the amniotic sac. A small sample of the amniotic fluid is extracted to perform the test.

Maternal serum screening

The amniotic fluid contains cells that the foetus sheds. These cells contain genetic information that help to confirm if there is a risk of the baby having a birth defect.

Carrier screening for genetic disorders
Just as children inherit facial features of their parents, some defects can also be inherited. A carrier is a person who may not have the disorder, or any traits of the defect, but carries the defective gene to his or her children.

Carrier screening for genetic disorders

A carrier screening is done to check if both the parents carry the same defective gene of some inherent health conditions and defects. It is done to find out if there is a strong history of a certain genetic disorder in the family. The most common of these inherent disorders are:

Thalassaemia
Fragile X syndrome
Cystic fibrosis
Muscular dystrophy
Hemophilia

For this test, a sample of prenatal blood is taken, and tested in a specialised genetic lab. If the parents already have a child with a disorder, the blood sample of the older child is also tested to confirm the exact cause of the defect. If the tests are positive, a medical counselor can provide the right information about having a baby with the disorder.

So with the above insights, Latika is preparing herself with a positive outlook and has decided to get a few important tests done to confirm a healthy pregnancy and a healthy baby.

About the Hospital:
Ankura Hospitals is a chain of Super-specialty Hospitals for Women and Children’s in Hyderabad. Set up in the year 2011 in KPHB, near Hitech Railway Station, the Ankura Hospitals family has today spread its wings to Secunderabad, Khammam and Vijayawada.