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Predictive Ability of Combined Factor Scores for Chromosomal Abnormalities in Pregnant Women With Polyhydramnios
Genichiro Sotodate1, Manami Akasaka1, Atsushi Matsumoto1
1Department of Pediatrics, Iwate Medical University, Yahaba, JPN.
Insights
Predicting chromosomal abnormalities in pregnant women with polyhydramnios is possible using combined prenatal factors. These scores offer better accuracy than individual factors, aiding in clinical decisions.
Area of Science:
- Maternal-Fetal Medicine
- Prenatal Diagnostics
- Genetics
Background:
- Polyhydramnios, an excess of amniotic fluid, is associated with an increased risk of fetal chromosomal abnormalities.
- Accurate prediction of these abnormalities is crucial for appropriate prenatal management and counseling.
Purpose of the Study:
- To investigate and evaluate prenatal factors that can predict chromosomal abnormalities in pregnant women diagnosed with polyhydramnios.
- To assess the predictive capability of various prenatal factors using receiver operator characteristic (ROC) curves.
Main Methods:
- A cohort of 76 pregnant women with polyhydramnios was analyzed.
- Data collected included maternal age, presence of major anomalies, and various fetal biometric measurements (abdominal circumference, femur length, estimated fetal weight).
- Combined factor scores were calculated and evaluated using ROC curve analysis.
Main Results:
- Chromosomal abnormalities were detected in 25% of the cases, with trisomy 18 and trisomy 21 being the most common.
- Combined factor scores demonstrated strong predictive ability for chromosomal abnormalities (Area Under Curve: 0.81-0.87).
- The combined score achieved a sensitivity of 79% and a specificity of 75%.
Conclusions:
- Combined prenatal factor scores are more accurate predictors of chromosomal abnormalities than individual factors in pregnancies with polyhydramnios.
- Elevated combined scores warrant suspicion of chromosomal abnormalities, even in the absence of detected fetal anomalies on ultrasound.
- Consideration for delivery at a specialized (Level III) facility is recommended for high-risk cases.
Aim:
This study investigated factors that can predict chromosomal abnormalities in pregnant women with polyhydramnios. The ability of prenatal factors to predict chromosomal abnormalities was evaluated using receiver operator characteristic curves.
Methods:
Of 76 eligible pregnant women, major anomalies were detected in 41 (54%) and chromosomal abnormalities in 19 (25%): trisomy 13 in one, trisomy 18 in 10, trisomy 21 in seven, and 22q11.2 deletion syndrome in one. Combined factor scores, including maternal age, major anomaly, abdominal circumference percentile, femur length percentile, and estimated fetal weight percentile, proved to be good predictors (area under the curve, 0.81-0.87) of chromosomal abnormalities and showed a sensitivity of 79% and specificity of 75%.
Conclusion:
Combined scores demonstrated more accuracy than individual factors for predicting chromosomal abnormalities. Even if an anomaly is not detected on fetal ultrasonography, in cases with higher scores, chromosomal abnormalities should be suspected, and delivery at a level III facility may be recommended.
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