Related Experiment Videos
Second trimester ultrasound screening for chromosomal abnormalities.
Thomas D Shipp1, Beryl R Benacerraf
1Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Prenatal Diagnosis
|May 1, 2002
Summary
Prenatal ultrasound, or genetic sonograms, effectively screen for chromosomal abnormalities like Down syndrome. Combining these scans with maternal serum screening offers a robust method for assessing fetal aneuploidy risk.
Area of Science:
- Prenatal diagnosis
- Medical imaging
- Genetics
Background:
- Prenatal ultrasound is effective for diagnosing chromosomal abnormalities.
- The nuchal fold measurement, identified in 1985, was the first sonographic marker for Down syndrome.
- Numerous sonographic markers associated with Down syndrome have since been described.
Purpose of the Study:
- To evaluate the efficacy of genetic sonograms in identifying fetal aneuploidy.
- To assess the role of sonographic markers in risk assessment for chromosomal abnormalities.
- To determine the optimal combination of screening methods for aneuploidy detection.
Main Methods:
- Detailed sonographic examination for aneuploidy markers (genetic sonogram).
- Integration of genetic sonogram findings with maternal serum screening.
- Risk assessment for chromosomal abnormalities based on ultrasound markers and maternal factors.
Main Results:
- Genetic sonograms identify fetuses at high risk for aneuploidy.
- Normal genetic sonograms can decrease perceived aneuploidy risk.
- Trisomy 18, Trisomy 13, and triploidy show high detection rates with ultrasound.
- Patients with increased risk (e.g., advanced maternal age, abnormal serum screening) benefit from genetic sonograms.
Conclusions:
- Genetic sonograms are valuable tools for prenatal diagnosis of chromosomal abnormalities.
- Combining genetic sonograms with maternal serum screening may be the optimal approach for second-trimester aneuploidy risk assessment.
- Further research is needed on the use of sonographic signs in low-risk populations.