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Teratogenicity

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

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Updated: May 29, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

First-trimester screening for trisomy 21 using alpha-fetoprotein.

Foteini E Bredaki¹, David Wright, Pedro Matos

¹Harris Birthright Research Centre of Fetal Medicine, King's College Hospital, London, UK.

Fetal Diagnosis and Therapy

|September 29, 2011

Summary

This summary is machine-generated.

Adding maternal serum alpha-fetoprotein (AFP) to first-trimester screening significantly improves detection of trisomy 21. This enhancement reduces false positives without impacting the detection rate for Down syndrome screening.

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Area of Science:

Prenatal diagnostics
Maternal serum screening
Genetics

Background:

First-trimester screening is crucial for detecting fetal aneuploidies like trisomy 21.
Current screening combines free β-human chorionic gonadotropin (β-hCG), PAPP-A, and nuchal translucency (NT).
The potential of adding alpha-fetoprotein (AFP) to this panel requires investigation.

Purpose of the Study:

To evaluate the added value of maternal serum alpha-fetoprotein (AFP) in first-trimester screening for trisomy 21.
To assess the impact of AFP on the performance of the combined test (free β-hCG, PAPP-A, NT).

Main Methods:

A case-control study involving 100 trisomy 21 and 1,500 euploid pregnancies.
Serum AFP levels were measured at 11-13 weeks' gestation.
Analysis focused on the effect of incorporating AFP into the existing combined screening protocol.

Main Results:

Significantly reduced median AFP levels were observed in trisomy 21 pregnancies (0.7037 MoM).
Adding AFP to the combined test improved screening performance.
At a 1:100 risk cut-off, the false-positive rate decreased by 0.4% without affecting the detection rate.

Conclusions:

Maternal serum AFP inclusion enhances the efficacy of the first-trimester combined test for trisomy 21 screening.
AFP improves the accuracy of Down syndrome screening in early pregnancy.