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Prenatal Risk Calculation (PRC) 3.0: An Extended DoE-Based First-Trimester Screening Algorithm Allowing For Early

E Merz¹, C Thode², B Eiben³

¹Center for Ultrasound and Prenatal Medicine, Frankfurt, Germany.

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|October 1, 2016

Summary

This summary is machine-generated.

This study extends the German PRC algorithm for first-trimester screening by enabling early blood sampling before 11 weeks. The enhanced method accurately detects trisomies 21, 13, and 18 with improved detection rates and manageable false positive rates.

Keywords:

first trimester screening prenatal diagnosis risk calculation

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Area of Science:

Maternal-fetal medicine
Prenatal screening
Genetics

Background:

Previous German PRC algorithm versions assumed synchronized maternal blood sampling and fetal ultrasonography.
This limitation restricted screening to specific gestational windows.

Purpose of the Study:

To extend the German PRC algorithm for first-trimester screening.
To accommodate scenarios where maternal blood sampling precedes fetal ultrasonography (before 11 weeks gestation).

Main Methods:

Logarithmic transformation of PAPP-A and free ß-hCG serum concentrations.
Development of reference bands for early gestational ages.
Calibration approach to eliminate maternal weight influence.

Main Results:

The extended algorithm demonstrated satisfactory statistical characteristics despite sparse early-gestation data.
For trisomy 21, a false positive rate (FPR) of 3.42% and a detection rate (DTR) of 86.8% were achieved.
For trisomies 13 and 18, FPR was 1.60% and DTR was 86.4%.

Conclusions:

Logarithmic transformation of serum markers enables extension of the DoE-based algorithm.
The enhanced algorithm is applicable to first-trimester screening with pre-11-week blood sampling.
This improves flexibility and accuracy in prenatal diagnosis of trisomies.