What fetal genetic disorders can you test for in pregnancy

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Recent technological breakthroughs have resulted in noninvasive prenatal testing (NIPT), which provides accurate information about common chromosomal abnormalities from a maternal blood test. NIPT delivers important information about the health of a pregnancy by revealing information about a baby’s genetic health risks.

What can NIPT reveal about chromosomes?

In order to know what NIPT can tell you about chromosomes, it’s important to know how chromosomes work. Chromosomes are structures inside the cells of the body that hold genes, the messages that tell the body how to grow and develop. Most people have two matching sets of 23 chromosomes.

This isn’t always the case though. Sometimes, a baby has an abnormal total number of chromosomes or chromosomes that have extra parts or parts missing. Depending on the chromosome involved, the pregnancy can have complications and the baby may have physical or developmental disabilities.

Which chromosomes can NIPT look out for?

Trisomy (meaning three copies of a chromosome) such as for chromosomes 13, 18, and 21 are the most common fetal trisomies that may not result in miscarriage:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)

Other examples of chromosome changes that can occur are gender or sex chromosomes anomalies. A baby can have too few or too many X or Y chromosomes. These are generally more mild conditions. About 1 in every 500 babies will be born with a sex chromosome abnormality.

  • Turner syndrome (X)
  • Klinefelter Syndrome (XXY)
  • XXX and XYY Syndrome

How does noninvasive prenatal testing work?

Evolving pregnancy screening options like NIPT, offer early genetic screening for chromosomal conditions using just one tube of blood—as early as 10 weeks into a pregnancy. Noninvasive prenatal testing provides high detection rates, low false-positive results, and no risk to mother and baby.

Other prenatal screening and diagnostic tests may require more than one office visit, multiple blood draws, or carry a higher risk of false-positive results. Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, provide definite results for most chromosome conditions but have an associated risk of miscarriage.

To learn more about NIPT, tap the link below.

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Noninvasive prenatal testing (NIPT) is a screening test; it is not diagnostic. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions.

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