Birth Defects: Causes and Diagnosis
Pregnancy is a milestone in the life of every expecting mother. A baby with countless capabilities is welcomed into the world, with the parents responsible for its upbringing.
While the journey of pregnancy is filled with joy and anticipation, it also brings in a looming sense of uncertainty and anxiety. One big concern for expectant parents is the health and well-being of their unborn child.
Among the countless uncertainties that may haunt a parent’s mind during pregnancy, birth defects surface as the leading concern. Read this article to understand birth defects and the various prenatal testing available for early diagnosis.
What are birth defects?
Birth defects, or congenital anomalies, are functional or structural abnormalities caused at birth, causing physical or mental disability. These anomalies range from mild conditions requiring minimal treatments to severe conditions requiring extensive medical intervention.
Heart defects, such as congenital heart disease, are among the most common. Other examples of birth defect diseases include spina bifida, club foot, and Down syndrome.
Congenital anomalies are uncommon, affecting 2–3% of newborns globally. However, this number becomes staggeringly high for a country with a massive population like India. According to the WHO, every year, more than 1.7 million Indian children are born with some form of birth defect.
What are the causes of birth defects?
Birth defects cannot be predicted, but the following factors have been known to be a leading cause behind multiple cases of congenital anomalies:
- Genetics
Genetics often play a crucial role in causing birth defects. Almost 20% of all congenital anomalies are caused due to genetic factors.
Certain birth defect diseases, like Down syndrome, can stem from genetic mutations. If you or your partner’s family has previous cases of genetic disorders, there is a high chance of the foetus having a birth defect.
- Medication Side Effects
Specific medications are infamous for negatively impacting developing foetuses. Isotretinoin, Warfarin, and some antiepileptic drugs have been known to cause harm to the foetus during its development.
Hence, it is paramount for pregnant women to be transparent with healthcare professionals about their past medical history and ongoing medications.
- Substance/Chemical Exposure
Substance abuse and an unsuitable environment have been known to be a leading cause of birth defect diseases. Pregnant mothers exposed to chemicals like lead, chlorine, or arsenic might have their foetuses develop congenital deformities.
Similarly, ill habits like smoking, substance abuse, or alcohol consumption during pregnancy are also leading reasons behind birth defects in foetuses.
- Pregnancy Complications
Mothers during pregnancy require the utmost care and attention. In most cases where pregnant women were deprived of proper nutrition, were mistreated, or suffered injuries, the newborns were often diagnosed with some birth defect.
Pre-existing conditions, like diabetes or high blood pressure, have also been known to contribute to birth defects.
How are birth defects diagnosed?
The best way to safeguard the mother and the foetus from potential complications is by staying aware of possible birth defects. Here are a few diagnostic and prenatal screening tests that you can consider:
- First-trimester screening test
The first-trimester screening test is one of the most prominent fetal screening tests to detect foetal anomalies. The diagnosis is done through a combined report of blood and ultrasound tests. In the blood test, the mother’s blood samples are checked for the levels of PAPP-A and βhCG.
The results you get from first-trimester testing will inform you of your foetus’s chances of developing an abnormality.
- Ultrasound
The ultrasound is another part of the prenatal testing for detecting foetal abnormalities. In this ultrasound test, the back of the foetus’ neck is in focus. Any skin thickening or increased fluid might hint at the possibility of a defect.
If any congenital disability possibility is detected in the combined results of the pregnancy screening test, your doctor might recommend more diagnostic tests for a clear result.
- Foetal MRI
Usually performed in the first or second trimester, Foetal MRIs provide more detailed imagery. With this examination, doctors will better view foetal structures like the brain, spinal cord, and other intricate structures.
- Amniocentesis
The doctor might prescribe amniocentesis if the first-trimester screening test hints at some possible abnormality. This test takes place during the second or third trimester.
This examination tests a small sample of the amniotic fluid surrounding the foetus. Analysing this fluid can reveal whether your foetus has any birth defects.
Do’s and Don’ts of Pregnancy
The pregnancy period should be handled with extreme care and caution. Here are some things that you should be mindful of during pregnancy:
- Consistent Healthcare Assistance: Routine check-ups and tests during pregnancy can help in the early detection and management of potential birth defects.
- Medical Transparency: Being open about your medical history, recent diagnosis, and ongoing medication is essential. With a proper medical history, doctors will better understand how to handle your pregnancy.
- Avoiding Smoking and Drinking: Research has consistently shown the negative impacts of alcohol consumption and smoking on foetal development. It is best to abstain from these during pregnancy.
- Avoid Unprescribed Drugs: Always consult a healthcare provider before taking any medication. Even seemingly benign over-the-counter drugs can sometimes pose risks during pregnancy.
- Postnatal Care: For babies born with defects, early and consistent postnatal care can make a significant difference in their health outcomes. Regular check-ups, surgeries, and therapies can help manage or correct abnormalities.
Book the First-Trimester Pregnancy Screening Test today with Dr Lal PathLabs. Visit your nearest diagnostic centre today!
