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Trisomy 21 screening with αlpha software and the Fetal Medicine Foundation algorithm.

L Pistorius1, C A Cluver2, I Bhorat3

  • 1Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa, Panorama Perinatology, Mediclinic Panorama, Cape Town, South Africa. lou@maternalfetal.co.za.

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|March 25, 2024
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Summary

Prenatal screening for trisomy 21 in South Africa shows Fetal Medicine Foundation (FMF) software offers better detection rates than alpha software. Low screening uptake limits prenatal diagnosis effectiveness.

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Public health

Background:

  • Trisomy 21 screening provides crucial risk information to pregnant women.
  • South Africa utilizes various algorithms for trisomy 21 screening.
  • Current screening methods raise concerns about effectiveness due to low prenatal detection rates.

Purpose of the Study:

  • To evaluate the screen positive and detection rates of prenatal screening for trisomy 21.
  • To compare different screening algorithms within the South African private healthcare system.

Main Methods:

  • Data from three major laboratories (2010-2015) were analyzed and linked with genetic tests.
  • Biochemical screening (alpha software) and combined screening (FMF or alpha software) were compared.
  • Screen positive and detection rates were assessed for various screening methods.

Main Results:

  • Only 35% of trisomy 21 cases were diagnosed prenatally out of 225,021 pregnancies screened.
  • Combined screening with FMF software achieved a 95% detection rate at a 5% false positive rate.
  • FMF software demonstrated superior detection rates compared to alpha software.

Conclusions:

  • FMF software offers comparable screen positive rates with superior detection for trisomy 21 compared to alpha software.
  • Low screening uptake significantly impacts the overall prenatal detection rate of trisomy 21.
  • Further research is needed to understand barriers to screening and confirmatory testing in South Africa.