How can the non-invasive prenatal test (NIPT)

The birth of each new life should be celebrated. During the first trimester of pregnancy, doctors in the department of gynecology and obstetrics may suggest that pregnant women perform a non-invasive prenatal test (NIPT) to determine if the baby might face an increased risk due to chromosomal abnormalities.

During pregnancy, part of the baby’s DNA passes into the mother’s blood. NIPT analyzes the genetic information in this DNA to determine if your baby is at increased risk for:

– Down syndrome (trisomy 21)
– Edwards syndrome (trisomy 18)
– Patau syndrome (trisomy 13)

For example, Down syndrome often presents with moderate to severe intellectual disability and physical developmental abnormalities and has an incidence of approximately 1 in 800 to 1 in 1000, which increases dramatically with maternal age.

Prompt and comprehensive prenatal screening not only helps parents better understand the health status of mother and baby, but also helps future parents to detect abnormalities early and plan treatment in consultation with doctors in the department of gynecology and obstetrics.

Traditional screening for Down syndrome is done primarily through biochemical markers, which is usually done between the 11th and 19th week of pregnancy and has an estimated detection rate of 88%. However, NIPT based on next-generation sequencing (NGS-based) can be performed as early as 10 weeks, while increasing the detection rate of Down syndrome to an estimated 99% detection rate.

With NIPT, invasive testing can be minimized and false negatives are significantly reduced. Therefore, NIPT is widely recommended by authoritative organizations in this field, such as the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG), for screening many abnormalities. chromosomal.

With the advice of their physicians, NIPT is suitable for pregnant women, such as single and twin pregnancies, and pregnancies with a history of trisomy, high risk of aneuploidy (having missing or extra chromosomes), contraindications to invasive procedures or in vitro fertilization.

NIPT includes the following steps: 5-10 ml of blood from the pregnant woman at 10-24 weeks is collected and sent for testing under the guidance and direction of doctors in the department of gynecology and obstetrics; the laboratory performs a DNA test on the blood samples; and the pregnant woman gets the NIPT report.

It is important to know that the NIPT is a screening tool and not a diagnostic test. This means that it cannot diagnose a genetic disease; it can only predict the risk to your baby. If the NIPT report indicates a high risk, the pregnant woman should undergo prenatal diagnosis according to the advice of the doctors in the department of gynecology and obstetrics.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world’s leading provider of genomic sequencing and proteomics services. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. To learn more about the NIFTY® test – the world’s first non-invasive prenatal test (NIPT) please visit our website. There are over 10,000,000 NIFTY samples processed as of 2021.

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