Expanding multiple marker screening for Down's syndrome to include Edward's syndrome

Area of Science:

• Prenatal diagnostics
• Maternal serum screening
• Chromosomal abnormalities

Background:

• Multi-marker screening is standard for Down's syndrome.
• Edward's syndrome (Trisomy 18) is another significant trisomy.
• Evaluating the feasibility of integrating Edward's syndrome screening into existing Down's syndrome protocols is important.

Purpose of the Study:

• To assess the effectiveness of multi-marker screening in detecting Edward's syndrome.
• To determine the impact on false-positive rates when screening for both Down's and Edward's syndromes.

Main Methods:

• Retrospective analysis of maternal age and serum markers (alpha-fetoprotein, uE3, hCG).
• Inclusion of pregnancies with confirmed Edward's syndrome, Down's syndrome, and unaffected pregnancies.
• Calculation of detection rates and false-positive rates for Edward's syndrome risk estimation.

Main Results:

• Using alpha-fetoprotein, uE3, and hCG identified 67-80% of Edward's syndrome cases.
• This integrated screening resulted in a low false-positive rate of 0.3-0.6%.
• Similar detection rates were achieved using only uE3 and hCG for Edward's syndrome risk.

Conclusions:

• Extending Down's syndrome screening to include Edward's syndrome risk is feasible.
• This approach offers high detection rates for Edward's syndrome with a minor increase in false positives.
• Integrating screening provides a more comprehensive prenatal diagnostic approach.