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FirstInsight Non-Invasive Prenatal Testing

FirstInsight is a prenatal screening tool that utilizes fetal DNA analysis to assess the risk of chromosomal disorders in a developing baby. It is a safe and straightforward procedure that requires only a small sample of maternal blood. The test can be conducted from the 10th week of pregnancy onwards and poses no risks to the mother or baby since it is non-invasive.

Why is testing for chromosome aneuploidy essential?

Chromosome aneuploidies are an important cause of congenital birth defects. Aneuploidy indicates the presence of an abnormal chromosome count, resulting from the gain or loss of a chromosome copy in a cell. Assessing fetal chromosomes for numerical errors provides accurate information about the chances of having a baby with congenital abnormalities.

What does FirstInsight screen for?

First Genomix offers two options for FirstInsight screening:

FirstInsight - Standard (for singleton and twin pregnancies)

Includes screening for the most common chromosome aneuploidies such as:

  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)
  • Sex chromosomes aneuploidy screening (Turner, Klinefelter, and Triple X syndromes)
FirstInsight - Extended (for singleton pregnancies only)

Screens all 24 chromosomes of a fetus to detect chromosomal disorders that may explain miscarriage and abnormalities during pregnancy.

Who is recommended to have the test?

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Genetics and Genomics (ACMG) recommend that all pregnant women perform prenatal screening for chromosome aneuploidy, regardless of their individual risk status.

How does NIPT work?

Condition Sensitivity Specificity
Trisomy 21 (Down syndrome) >99.9% >99.9%
Trisomy 18 (Edwards syndrome) >99.9% 99.9%
Trisomy 13 (Patau syndrome) >99.9% 99.9%
XY Chromosomes >99.9% >99.9%
Sex Chromosome Aneuploidy 95.89% 99.85%
Rare Autosomal Trisomies 96.4% 99.8%

FirstInsight can also identify the sex of the baby and is applicable to both singleton and twin* pregnancies.

*For fetal sex in twin pregnancies, reporting the presence of a Y chromosome indicates that at least one of the fetuses is a male, but it cannot determine if only one or both fetuses are male.

FirstInsight test results can inform discussions with your doctor regarding pregnancy care. Normal results indicate a low likelihood of common chromosomal abnormalities, providing reassurance. However, high-risk results prompt further testing via invasive procedures like chorionic villi sampling or amniocentesis. Confirmatory testing and genetic counseling are recommended to discuss implications and available choices for you and your baby.

FirstInsight is a prenatal screening test that effectively detects common chromosome abnormalities. However, it cannot eliminate the chance of other abnormalities such as unbalanced translocations, deletions, duplications, single gene mutations, open neural tube defects, or complications that may arise later in pregnancy. While FirstInsight is a highly reliable screening tool, it should be noted that it is not a diagnostic test. If positive results are obtained, they should be verified through invasive diagnostic testing.