Triple test screening for Down syndrome: an Egyptian-tailored study

PLoS One. 2014 Oct 20;9(10):e110370. doi: 10.1371/journal.pone.0110370. eCollection 2014.

Abstract

Background: The incidence of Down syndrome (DS) in Egypt varies between 1:555 and 1:770 and its screening by triple test is becoming increasingly popular nowadays. Results, however, seem inaccurate due to the lack of Egyptian-specific information needed for risk calculation and a clear policy for programme implementation. Our study aimed at calculation and validation of the triple marker medians used in screening Egyptian females as well as to recommend programme conventions to unify screening in this country.

Methods: The study was conducted on 668 Egyptian women, in weeks 15-20 of pregnancy as proven by sonar. Chorionic gonadotropin (CG), α-fetoprotein (AFP) and unconjugated oestriol (uE3) were measured on Siemens Immulite analyzer. Medians of the three parameters were calculated, regressed against gestational age (GA) and weighted by the number of participants/week. Equations were derived to adjust each parameter to the maternal weight and were centered on the median Egyptian weight. Prisca software was fed with the above data, multiples-of-median (MoM) and DS risks were calculated and the screening performance was evaluated at a mid-trimester risk cutoff of 1:270.

Results: Log-linear [AFP/uE3 = 10(A+B*GA)] and exponential equations [CG = A*e (B*GA)] were derived and the regressed medians were found to follow similar patterns to other Asian and Western medians. Oestriol was always lowest (even halved) while CG and AFP were intermediate. A linear reciprocal model best fitted weight distribution among Egyptians and successfully adjusted each parameter to a weight of 78.2 kg. Epidemiological monitoring of these recommendations revealed satisfactory performance in terms of 6.7% initial positive rate and 1.00 grand MoM.

Conclusions: Adoption of the above recommendations is hoped to pave the way to a successful DS screening programme tailored to Egyptian peculiarities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chorionic Gonadotropin / blood
  • Down Syndrome / diagnosis*
  • Egypt
  • Estriol / blood
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Regression Analysis
  • alpha-Fetoproteins / analysis

Substances

  • Chorionic Gonadotropin
  • alpha-Fetoproteins
  • Estriol

Grants and funding

This work was supported by the Cairo University Research Fund. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.