Sonographical integrated test for detection of chromosomal aberrations

Area of Science:

• Maternal-fetal medicine
• Prenatal diagnostics
• Medical imaging

Background:

• Chromosomal abnormalities pose a significant risk during pregnancy.
• Current diagnostic methods for chromosomal abnormalities include sonographical and biochemical assessments.
• Optimizing diagnostic accuracy and safety is crucial for prenatal care.

Purpose of the Study:

• To develop a diagnostic algorithm for chromosomal abnormalities with maximal sensitivity.
• To integrate multiple sonographical parameters for enhanced risk detection.
• To establish an optimal screening scheme for fetal chromosomal abnormalities.

Main Methods:

• A cohort of 1490 pregnant women was studied.
• First-trimester ultrasound included nuchal translucency (NT) and nasal bone (NB) measurements.
• Second-trimester ultrasound involved nuchal thickness and NB re-measurement.

Main Results:

• The combined NT and NB measurement demonstrated high sensitivity (94.7%) and specificity (99.21%).
• Positive predictive value (PPV) was 85.7% and negative predictive value (NPV) was 99.73%.
• The integrated approach significantly increased the test's predictive value.

Conclusions:

• The proposed integrated test offers high predictive value for detecting chromosomal abnormalities.
• This screening method is cost-effective and poses no risk to the fetus.
• The combination of ultrasound examinations and biochemistry enhances diagnostic efficacy and can be offered to all pregnant women.