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A Novel Use of Three-dimensional High-frequency Ultrasonography for Early Pregnancy Characterization in the Mouse

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Published on: October 24, 2017

The second trimester genetic sonogram.

Fionnuala M Breathnach¹, Ann Fleming, Fergal D Malone

¹Department of Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

|February 17, 2007

Summary

The genetic sonogram, a fetal anatomic survey, refines aneuploidy risk assessment by evaluating fetal markers. This review details its components and integration into risk evaluation for trisomy.

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Is My Mouse Pregnant? High-Frequency Ultrasound Assessment

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Area of Science:

Medical Imaging
Prenatal Diagnosis
Genetics

Background:

The genetic sonogram is a fetal anatomic survey performed between 15 and 20 weeks' gestation.
It serves as an adjunctive screening tool to refine aneuploidy risk assessment.
Maternal age and serum screening markers are traditional risk factors for trisomy.

Purpose of the Study:

To describe the key components of the second-trimester genetic sonogram.
To illustrate how sonographic markers are integrated into aneuploidy risk assessment.
To review the significance of major structural anomalies and soft markers for trisomy.

Main Methods:

Review of existing literature on genetic sonograms and aneuploidy screening.
Analysis of the role of major structural anomalies and soft markers in risk assessment.
Description of the integration of sonographic findings into individualized risk calculations.

Main Results:

The genetic sonogram identifies fetal features associated with aneuploidy.
Both isolated and combined markers significantly impact trisomy risk assessment.
Sonographic findings refine risk stratification beyond maternal age or serum screening.

Conclusions:

The second-trimester genetic sonogram is a crucial tool for prenatal aneuploidy screening.
Understanding sonographic markers enhances the accuracy of individualized risk assessment for trisomy.
This review provides a framework for integrating sonographic findings into clinical practice.