Related Experiment Video
Updated: Jun 25, 2026
11:54
Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
Prenatal molecular diagnosis of tuberous sclerosis complex
Aubrey Milunsky1, Masamichi Ito, Thomas A Maher
1Center for Human Genetics, Boston University School of Medicine, Boston, MA; Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118, USA. amilunsk@bu.edu
American Journal of Obstetrics and Gynecology
|March 4, 2009
Summary
Prenatal molecular diagnosis accurately identified tuberous sclerosis complex (TSC) mutations in at-risk pregnancies. This DNA analysis confirms its value for genetic counseling and reproductive options in families with TSC.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Molecular Biology
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple organs.
- Prenatal diagnosis is crucial for families with a history of TSC.
- Early identification allows for informed reproductive decisions and management.
Purpose of the Study:
- To evaluate the effectiveness of prenatal molecular diagnosis for Tuberous Sclerosis Complex (TSC).
- To assess the utility of DNA analysis in identifying TSC-related mutations during pregnancy.
Main Methods:
- Performed DNA studies on amniotic fluid cells and chorionic villi from 50 at-risk pregnancies.
- Utilized gene sequencing and deletion/duplication analysis for TSC1 and TSC2 genes.
- Correlated genetic findings with ultrasound detection of fetal cardiac rhabdomyomas.
Main Results:
- Successful DNA analysis in 48 out of 50 fetuses.
- Identified TSC mutations in family members and/or fetuses, with TSC1 and TSC2 gene involvement.
- Detected novel mutations in 19 families and confirmed fetal cardiac rhabdomyomas in 18 fetuses, with a high mutation rate in TSC2.
Conclusions:
- Prenatal DNA analysis is a valuable tool for diagnosing TSC in at-risk pregnancies.
- Genetic evaluation and counseling are recommended for parents with a family history of TSC or fetal abnormalities.
- Prenatal diagnosis empowers families with critical information for managing TSC.
