NIPT vs Amniocentesis: Accuracy, Risks, Cost in India, and Which Test is Better for Down Syndrome?

Prenatal testing involves various diagnostic and screening procedures during pregnancy. NIPT and Amniocentesis are the most common prenatal testing procedures performed to detect potential health problems in the mother and fetus.

When it comes to identifying placental issues, birth defects, or genetic disorders, most people are confused about the accuracy of NIPT vs Amniocentesis in genetic testing. All these prenatal tests offer essential information that can help healthcare professionals understand the health needs of the fetus.

Before we dive deeper, let's understand the prime difference between screening (NIPT) and diagnostic amniocentesis tests. The NIPT blood test is a non-invasive test that offers a low-risk and high-risk assessment for chromosomal anomalies; on the other hand, amniocentesis involves an invasive procedure that provides a definitive diagnosis.

NIPT or non-invasive prenatal testing is a screening test, while amniocentesis is a diagnostic test. Parents usually compare these two tests because both are associated with checking the fetal health during pregnancy, particularly when it comes to detecting genetic conditions.

Now you must be thinking, NIPT vs amniocentesis, which is better? NIPT shows the possibility of a condition with its positive predictive value, while amniocentesis specifies the presence or absence of a condition with a little risk of miscarriage.

What is the difference between NIPT and amniocentesis in pregnancy? Let's explore everything you should know about NIPT vs Amniocentesis for prenatal diagnosis.

Before we go deeper into the NIPT blood test vs amniocentesis, first understand NIPT. It’s a blood test that analyzes cell-free DNA and is considered safe to diagnose certain genetic conditions a baby may have during pregnancy. The NIPT test at 10 weeks is a non-invasive test as it involves drawing a blood sample from the mother, so it doesn’t carry any risk to the baby.

Usually, NIPT is performed after 10 weeks of pregnancy. The mother’s blood is withdrawn to explore the minute pieces of fetal DNA that float in it. The fetal fraction in the mother’s blood can help diagnose Down Syndrome, Edwards Syndrome, Patau Syndrome, the gender of the fetus, and other genetic disorders.

• 99% accurate for certain conditions, including Down Syndrome
• Extremely safe for the mother and the baby
• Fat results usually appear within one to two weeks of pregnancy

The amniocentesis test is performed to diagnose certain health issues in the baby during pregnancy. A healthcare professionals collect a sample of the amniotic fluid(the fetus is surrounded by amniotic fluid inside the womb) using a thin needle.  

Amniocentesis in pregnancy is usually performed between 15 and 20 weeks. The amniotic fluid contains genetic material and cells of the baby. The chorionic villus in the amniotic fluid can be tested for infections, certain genetic conditions such as Down syndrome and spina bifida, and lung development.

Usually, Amniocentesis is recommended when a screening test such as NIPT reveals a high risk in pregnancy, the mother is over 35 years, family history of genetic conditions, or if the ultrasound shows unusual findings.

• It is an invasive diagnostic test, but generally considered safe.
• It tells a clear yes or no for the condition.
• It carries a little risk of miscarriage.
• Allows parents to make informed decisions in case of serious issues.

• A screening test that does not guarantee 100 percent accuracy.
• NIPT tells the high or low risk, but does not give a definitive yes or no.
• NIPT accuracy for Down syndrome is over 99%.
• Significantly accurate for Trisomy 18 and Trisomy 13 as well.
• The result may be a false positive or false negative.

• Diagnostic test with a clear yes or no answer.
• It looks into the amniotic fluid to explore the actual cells of the baby.
• Mostly 100 % accurate for various genetic conditions.
• Can diagnose the conditions that NIPT may not.

Check out the Amniocentesis vs NIPT Statistics and other differences in the table mentioned below:

Usually, Amniocentesis is considered the gold standard as it can detect various genetic conditions during pregnancy, offering accurate and reliable results.

NIPT or Amniocentesis, which is better for detecting genetic disorders? If you want the diagnosis for common aneuploidies such as Down syndrome, Patau syndrome, or Edwards syndrome, NIPT is the ideal option for early and accurate results without any risks. On the other hand, if you are seeking a diagnosis or specific genetic disorders, Amniocentesis is an ideal option as it directly looks into the fetal DNA and can diagnose many conditions.

When it comes to NIPT or Amniocentesis, which is better, it depends on the purpose, whether you need a safe screening or you are expecting a definite diagnosis. NIPT, noninvasive prenatal screening, is a safe and early test to detect the possibility of risk to your baby and is recommended for pregnant women. Amniocentesis is good if you are seeking a definite answer after a positive concern in ultrasound or NIPT, with a rare risk of miscarriage.

Down Syndrome (trisomy 21) is a genetic condition that means the baby has an extra copy of chromosome 21. It leads to certain physical features and developmental delays in the baby. Does a negative NIPT mean no Down syndrome, or could it indicate insufficient fetal DNA? It means the chance of Down syndrome is extremely low.

A simple blood test is performed to identify the risk of Down syndrome by looking for the tiny pieces of fetal DNA in the maternal blood. The noninvasive prenatal testing results are 99% accurate for Down syndrome. NIPT involves a safe procedure and tells the high or low risk of Down syndrome.

A thin needle is used to collect amniotic fluid that surrounds the fetus inside the womb. The amniotic fluid contains actual fetal cells, which are tested for chromosomes. Amniocentesis is 100% accurate for Down syndrome with a clear yes or no answer.

Refer to the comparison chart for NIPT vs Amniocentesis for Down syndrome:

Your healthcare provider will recommend Amnioventesis after NIPT in case the NIPT result shows a possible risk of a genetic condition such as Down syndrome. Here's when you need Amniocentesis after NIPT:

• If your NIPT (first-trimester screening) results show a high risk, amniocentesis is recommended to confirm the risk and diagnose the condition.

• Suppose your ultrasound report shows something abnormal or a sign of possible genetic concern. If you have a family history of any genetic condition, Amniocentesis can offer a clearer picture.

Amniocentesis after negative NIPT test results is usually not recommended; however, in case of red flags or if you seek a complete genetic diagnosis, amniocentesis is the only option for a clear answer.

Whenever you are getting tested for anything, especially during pregnancy, you are usually concerned about the risks associated with the test. So let's understand the NIPT test risks vs the Amniocentesis risks.

NIPT is a screening test that is completely safe for the baby as well as the mother. Whereas Amniocentesis may carry a little risk of miscarriage, as it is an invasive diagnostic test that involves needle insertion in the womb.

Refer to the table mentioned below:

So, now you must be thinking about when to take NIPT vs Amniocentesis? NIPT can be performed after 10 weeks of pregnancy to get the essential information about the health risk associated with the fetus. The results are usually available within 1 or 2 weeks.

Amniocentesis is usually performed between 15 and 30 weeks of pregnancy. During this period, the cells of the bay are more developed, allowing for a clear assessment. Before 15 weeks, amniotic fluid is available in a small quantity. The results are usually available within 1 to 2 weeks.

Let's get into the cost comparison of NIPT vs Amniocentesis in India:

The exact cost may vary depending on the city, laboratory, and other factors. The average cost of a Non-Invasive Prenatal test in India ranges between INR 15,000 and INR 25,000. Advanced testing may cost around INR 30,000 to INR 40,000.

The average cost of Amniocentesis in India ranges between INR 15,000 and INR 35,000, depending on the city and diagnostic center. Premium diagnostic centers in India may charge up to INR 48,000.

Here’s the complete comparison table showing NIPT vs Amniocentesis:

NIPT or Non-Invasive Screening Test is a safer and ideal option to get information about possible chromosomal conditions during the early pregnancy period. It’s a simple screening test that is performed by collecting the mother’s blood sample. The only drawback is that it may give false negative or false positive results, so further testing may be required.

On the other hand, Amniocentesis is a diagnostic test that involves an invasive procedure, withdrawing amniotic fluid from the womb. It diagnoses the genetic health conditions in a baby during pregnancy. It offers 100% accurate results with minimal risk.

NIPT and amniocentesis are generally used together for prenatal testing, so they are not competing tests. Both carry their own pros and cons that are usually negligible. Consult your healthcare provider to know the ideal test during pregnancy because the last decision should be made by your healthcare professional.

***Medical Disclaimer - The following information is for educational purposes only. No information provided on this website, including text, graphics, and images, is intended as a substitute for professional medical advice. Please consult with your doctor about specific medical advice about your condition(s).