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How To Diagnose Birth Defects During Pregnancy? - MyHealth

Women's Reproductive Health

How To Diagnose Birth Defects During Pregnancy?

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Medically Reviewed By
Dr. Ragiinii Sharma

Written By Komal Daryani
on Sep 8, 2022

Last Edit Made By Komal Daryani
on Mar 17, 2024

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Growing another life within you is undeniably a splendid experience one could ever be a part of. Pregnancy is an incredible phase that words can do no justice to. However, every blessing comes with responsibilities. It is crucial to moderate your lifestyle or diet to control all possible circumstances in your hands to enjoy the most beautiful phase of life to the fullest. Being a mother, you should be responsible enough to protect your baby from day one. There are so many things that need your attention, one of which is congenital disabilities. Birth defects during pregnancy are common in particular conditions that need to diagnose early to be taken care of in time. Birth Defects occur when a baby is in the womb. These might sounds normal but can interfere with their development and cause several lifetime disabilities. These can be minor to major, anything that needs to be addressed on time to avoid serious complications. Therefore, being attentive towards the same is significant to avert severities in the future. Causes Of Birth Defects: In general, the actual cause of birth defects is still unknown, yet some common bases are:

  • Genetics
  • Inadequate prenatal care
  • Maternal age of 35 or above
  • Poor lifestyle and dietary habits
  • Certain infections during pregnancy
  • Combination of any of these factors
  • Exposure to hazardous medications
  • Alcohol consumption or smoking during pregnancy

Common Birth Defects:

  • Clubfoot
  • Cleft palate
  • Spina bifida
  • Limb defects
  • Cystic Fibrosis
  • Down Syndrome
  • Sickle Cell Disease
  • Cleft lip with cleft palate
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Congenital Heart Defects (CHD)

Diagnosing congenital disabilities is crucial to avoid possible complications. If untreated, it can create several problems. Now the question here is how to diagnose birth defects during pregnancy. Pregnancy test There are n numbers of tests your doctor may call in different weeks of pregnancy as parental care to find the probabilities of a baby with chromosomal abnormalities or birth defects. Some of the most common diagnosis that detects genetic disorders includes:

  • Double Marker Test: Also known as Maternal Serum Screening or Dual Marker Test, this is an essential screening your doctor may ask for during the first trimester of pregnancy. It is an indicative test, not the definitive one, and can only predict the likelihood of chromosomal abnormalities. It is a simple blood test that checks for beta-hCG and PAPP-A in the blood. Their levels, if more than normal, indicates something unusual that needs your immediate attention. However, the blood levels alone are not enough, and if the results are abnormal, your doctor may call for further screening to confirm defects in the fetus to begin the treatment at the earliest.
  • Triple Marker Test: Conducted during gestational age of 15 to 20 weeks, the Triple Marker Test, also known as Triple Tests, addresses possible defects in the unborn baby. It is named a triple marker because it detects the amount of three substances in the blood, including AFP, HCG, & Estriol. Their abnormal levels indicate the presence of neural tube defects, multiple infants, or an improper timeline. However, it is not a definitive test, so it cannot confirm the condition but can only indicate one and requires further testing for confirmation.
  • Quadruple Marker Test: Done ideally during the second trimester of pregnancy, the Quadruple Marker Test addresses the genetic defects in the fetus. It measures b-hCG, AFP, uEst, and Inhibin A in the blood. Being a prenatal test, it detects potential developmental problems within the baby’s brain, neural tissues, and spinal cord. If the test results show increased risks, your doctor may call for more tests for confirmation.

Besides these tests, your doctor may call for high-resolution ultrasounds and other diagnostic or final-level tests for confirmation. You should know that the quicker the disease is detected, the faster it can be treated. So, Book a Pregnancy Test to detect congenital disabilities and treat them shortly. Birth Defects in India Not All Birth Defects Show Up Before Birth – Despite all the testing, certain defects don’t demonstrate until the baby is born. Sometimes, it will come into the spotlight right at birth; in another case, it might not be diagnosed until later in life. You must understand that it is possible to treat several birth defects while a baby is in utero. Thus, consider timely diagnosis to detect the problem in early pregnancy and avoid probable complications later on. Steps To Reduce Risks Of Birth Defects: It is crucial to understand that not all birth abnormalities are preventable. However, some ways decrease your risks of carrying a baby with congenital disabilities and increase the chances of conceiving a healthy baby. Here’s a list of preventive measures that everyone should adopt for a healthy pregnancy:

  • Follow prenatal care.
  • Maintain a healthy weight throughout the pregnancy.
  • If you have a pre-existing condition should take special care.
  • Consult your doctor before starting or stopping any medicine.
  • Avoid alcohol, tobacco, and other harmful substances during pregnancy.
  • Take all the vaccines recommended by your doctor to protect yourself and your baby.

Birth Defects can be problematic, especially if not taken care of in time. Therefore, a timely diagnosis should be in your mind to get the treatment to minimize complications. So, if you are pregnant and your doctor has called for prenatal screening, book Antenatal Care- Early Pregnancy Check Up in Delhi with Redcliffe Labs. Our years of experience, excellence, and top-notch resources always give us an upper hand in handling varied testing and diagnosis with maximum professionalism. You can book a Pregnancy Test Online via the website or mobile app now.

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