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Updated: Nov 20, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Obstetrics, genetics, and litigation
1Center for Human Genetics, Cambridge, MA, USA.
Introduction:
Claims of medical negligence are universal. Unexpected adverse pregnancy outcome may trigger litigation. Such outcomes, especially with neurodevelopmental sequelae, may be compounded by a genetic disorder, congenital abnormality, or syndrome.
Material And Methods:
This is a report of 297 cases in which a pregnancy complication, error, or incident occurred that was followed by progeny with a genetic disorder, congenital abnormality, or syndrome that spawned litigation. The author assessed, opined, and in many cases, testified about causation.
Results:
Pregnancies complicated by hypoxic ischemic encephalopathy were not infrequently compounded by offspring with a genetic disorder, congenital abnormality, or syndrome. Multiple cases were brought because of missed ultrasound or laboratory diagnoses, or failures in carrier detection. Teratogenic medication prescribed before or during pregnancy invited legal purview. Failure to refer (or confer) for genetic evaluation or counseling in the face of significant risk, occurred repeatedly. Ethical breaches and hubris promptly led to litigation.
Conclusions:
Many lessons and recommendations emerge in this report. These include the realization that the vast majority of errors in this series involved at least two caregivers, serial ultrasound studies are important, decreased fetal movements may signal a genetic disorder, congenital abnormality, or syndrome, family history and ethnicity are vital, cognitive biases profoundly affect decision-making. Finally, the simplest of errors have the potential for causing life-long grief.
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