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Figure 1.

Gestational Age Distribution at Time of Non-invasive Prenatal Testing.

This figure shows the frequency distribution by week of the gestational age of the fetus at the time testing. Percent of patients in each trimester is displayed in the inset table.

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Table 1.

Average NIPT Patient Demographics (n = 100,000).

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Figure 2.

Clinical Reasons for Non-invasive Prenatal Testing.

This figure shows the clinical indication for testing. Advanced maternal age is defined as maternal age at birth of 35 or greater for singletons, 32 or greater for twins and 27 or greater for triplets or more. Subtotals for multiple indications include any time the indication is selected.

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Table 2.

NIPT Laboratory Performance.

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Table 2 Expand

Figure 3.

Impact of BMI on Final Results.

This figure shows a breakdown of final results when binned by maternal BMI. The number of patients in each bin is displayed above their respective bin.

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Table 3.

Breakdown of the NIPT Final Results.

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Table 4.

Study Comparison of Positivity Rate in Advanced Maternal Age Pregnancies.

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Table 5.

Clinical Performance Based on Clinical Experience.

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Figure 4.

NIPT T21 Modeled Performance at Low Fetal Fractions.

In figure, 27,824 samples that passed all laboratory quality criteria with fetal fractions between 4 and 8% were fitted into two normal distributions, one for euploids and one for T21 positives. The fitted distribution was used to estimate specificity and sensitivity.

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Figure 5.

Clinical Impact of Non-invasive Prenatal Testing.

All positive NIPT samples are recommended for invasive testing. Invasive procedure related miscarriages numbers based on a 0.5–1.0% frequency range.

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