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Procedure To Detect Birth Defects: Expert Explains Benefits And Risks Of Amniocentesis

Amniocentesis is a prenatal diagnostic procedure that provides information about a developing foetus. Read on to learn the benefits and risks of this procedure.
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Procedure To Detect Birth Defects: Expert Explains Benefits And Risks Of Amniocentesis

Imagine a window into the womb, a portal that allows us to peek into the intricate world of foetal development. Amidst the joy and anticipation, concerns about the health and well-being of their unborn child may arise. It is during such moments that medical advancements like amniocentesis come to the forefront.

Amniocentesis, also known as amniotic fluid test, is a prenatal diagnostic procedure that provides information about the developing foetus. However, like any medical procedure, amniocentesis comes with its own set of benefits and risks. We spoke to Dr Arpana Jain, Director, Obstetrics and Gynaecology, Fortis Hospital, Shalimar Bagh, who explained it in detail. 

What Is Amniocentesis?

amniocentesis

Dr Jain said that amniocentesis is a diagnostic procedure undergone during pregnancy and is commonly used to check the baby's chromosomes. It is performed occasionally to examine diseases during pregnancy, such as infections or genetic disorders. According to the AMA Journal of Ethics, maternal age over 35 is the most common current indication for amniocentesis.

She added that it is an invasive prenatal test in which your doctor takes a sample of the amniotic fluid (a fluid that surrounds your baby during pregnancy). The sample (less than an ounce) is extracted using an ultrasound-guided tiny needle put into the uterus through your abdomen. A lab analyses the sample and verifies your child's chromosomes. The karyotype test, FISH test, and microarray analysis are examples of these tests.

Also Read: Thalassemia In Pregnancy: Expert Explains How to Manage The Condition

Benefits Of Amniocentesis 

Dr Jain said that a complete anatomical ultrasound is done before amniocentesis. It is commonly performed to look for certain types of birth defects, such as Down syndrome or a chromosomal abnormality. Because amniocentesis poses a minor risk to both the mother and the baby, the prenatal test is mainly administered to women who are at high risk for genetic illnesses, such as those with a family history. This also includes:

  • If you get an abnormal ultrasound or lab results
  • If certain birth abnormalities run in your family,
  • If you had a previous child or pregnancy with a birth problem
  • If you received an abnormal genetic test result during your most recent pregnancy

In cases where the parents have a significant genetic risk, amniocentesis can be used to detect the following conditions:

  • Down syndrome
  • Sickle cell disease
  • Cystic fibrosis
  • Muscular dystrophy
  • Tay-Sachs and similar diseases
consulting-doctor

Accurate Diagnosis

Amniocentesis is considered one of the most reliable prenatal diagnostic tests. The foetal cells present in the amniotic fluid provide a direct sample for genetic analysis, allowing for a highly accurate diagnosis. 

Also Read: Twin Pregnancy: Double Joy Or Double Challenges? Expert Weighs In

Is Amniocentesis Safe?

Dr Jain said that amniocentesis is usually very safe but the test does have some risks. You'll have to weigh the hazards against the benefits of knowing whether your baby has a problem. There is a chance that the test will result in a miscarriage.

miscarriage

Risk Of Amniocentesis 

According to Dr Jain, there is a low chance that an amniocentesis will result in a miscarriage i.e. 1 in 1,000 to 1 in 43,000. Injury to the baby or mother, infection, and preterm labour are other potential complications that can happen but are extremely rare. Women who are carrying twins are also at a higher risk. Cramping similar to period pain and light vaginal bleeding known as spots are common for a few hours following amniocentesis. However, if you have these symptoms, you should immediately see your doctor.

Bottomline

Expectant parents should discuss their circumstances with healthcare professionals, including the potential benefits and risks, to determine whether amniocentesis is the right choice for them. Ultimately, the decision should be based on a thorough understanding of the procedure and the specific medical factors involved, with careful consideration of the potential benefits and risks involved in each case.

Disclaimer

This article contains information provided by a registered healthcare professional. However, we advise you to consult your expert for a diagnosis according to your needs.

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