High risk in the first-trimester combined screening: Long-term outcomes of the children

Area of Science:

• Maternal-Fetal Medicine
• Prenatal Screening
• Genetics

Background:

• First-trimester combined screening is crucial for assessing fetal aneuploidy risk.
• Accurate prognosis for euploid fetuses with high screening risk requires further investigation.
• Identifying adverse outcomes in high-risk euploid pregnancies aids in targeted management.

Purpose of the Study:

• To enhance the accuracy of predicting outcomes for euploid fetuses with high-risk first-trimester screening results.
• To compare adverse outcomes in high-risk euploid fetuses versus low-risk euploid fetuses.
• To analyze the contribution of individual screening markers to adverse pregnancy outcomes.

Main Methods:

• Retrospective analysis of 483 pregnancies: 161 high-risk (trisomy 21 risk ≥ 1:50) and 322 low-risk (risk ≤ 1:300) euploid fetuses.
• Adverse outcomes included miscarriage, termination, stillbirth, preterm delivery, and unhealthy infant delivery.
• Statistical analysis using chi-square, Fisher-Freeman-Halton, Mann-Whitney, and t-tests; adjusted for maternal age, parity, and smoking.

Main Results:

• Adverse outcomes occurred in 11.8% of high-risk cases versus 5.9% in controls.
• High-risk euploid fetuses had a twofold increased odds ratio for adverse outcomes (OR 2.1, p=0.05) after adjustment.
• Increased PAPP-A levels (1 SD) significantly decreased adverse outcome risk (OR 0.48, p=0.05); NT and β-hCG MOM changes were not significant.

Conclusions:

• Euploid fetuses identified as high-risk in first-trimester screening exhibit a doubled risk of adverse pregnancy outcomes.
• This study refines prognostic accuracy for euploid fetuses within high-risk screening categories.
• PAPP-A levels may serve as a potential marker for predicting adverse outcomes in these pregnancies.