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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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FISH for Pre-implantation Genetic Diagnosis

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Published on: February 23, 2011

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non-Isolated Clubfoot?

Jana M de Vries^1,2, Arda Arduc^1,2, Elisabeth van Leeuwen^1,2

¹Department of Obstetrics and Gynaecology, Amsterdam UMC, Amsterdam, the Netherlands.

Prenatal Diagnosis

|December 16, 2025

Summary

This summary is machine-generated.

Prenatal ultrasound and genetic testing aid in diagnosing isolated clubfoot, but challenges remain in distinguishing it from cases with additional anomalies. Postnatal diagnosis may differ from prenatal findings.

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Area of Science:

Prenatal diagnosis
Medical imaging
Genetics

Background:

Congenital clubfoot diagnosis relies on prenatal ultrasound.
Distinguishing isolated clubfoot from syndromic cases is crucial for management.

Purpose of the Study:

To evaluate the efficacy of second-trimester ultrasound in diagnosing isolated congenital clubfoot.
To assess the role of prenatal genetic testing in identifying associated genetic disorders.

Main Methods:

Retrospective cohort study (2007-2021) in the Netherlands.
Included 423 cases with suspected clubfoot (16-24 weeks gestation).
Utilized ultrasound and invasive genetic testing (rapid aneuploidy, CMA, exome sequencing).

Main Results:

Prenatal diagnosis of isolated clubfoot was confirmed in 387 pregnancies.
Diagnosis changed to non-isolated prenatally in 5% and postnatally in 12% of cases.
10% of prenatal clubfoot diagnoses were not confirmed postnatally.

Conclusions:

Prenatal ultrasound and genetic testing are vital for identifying anomalies and genetic disorders in clubfoot cases.
Accurate differentiation between isolated and non-isolated clubfoot remains challenging.
Prenatal testing does not rule out all postnatal structural or neurodevelopmental issues.