Trends in Invasive Prenatal Testing, Diagnosis, and Abortion for Fetal Aneuploidy

Area of Science:

• Obstetrics and Gynecology
• Prenatal Diagnostics
• Genetics

Background:

• Introduction of cell-free DNA (cfDNA) screening into routine prenatal care has altered diagnostic pathways for fetal aneuploidy.
• Understanding trends in indications, diagnostic yield, and timing of diagnosis and abortions is crucial since cfDNA implementation.

Purpose of the Study:

• To assess the impact of cfDNA screening on prenatal testing for aneuploidy.
• To analyze trends in indications, diagnostic yield, and timing of diagnosis and pregnancy terminations.

Main Methods:

• Observational retrospective study of invasive prenatal diagnostic procedures from 2010-2022.
• Evaluation of clinical variables including gestational age, indications, results, and pregnancy outcomes.
• Descriptive statistics to characterize the patient sample.

Main Results:

• Invasive procedures decreased significantly post-cfDNA introduction, with shifted indications from advanced maternal age to abnormal ultrasound findings.
• Abnormal cfDNA screening was associated with earlier diagnostic testing (15.3 vs. 17.8 weeks) and higher aneuploidy detection rates (60.4% vs. 13.2%).
• Despite earlier cfDNA screening, diagnosis and abortion for aneuploidy often occurred in the second trimester (15.5 vs. 19.3 weeks for abortion).

Conclusions:

• cfDNA screening has reduced invasive prenatal diagnostic procedures and altered testing indications.
• Abnormal cfDNA screening improves diagnostic yield and enables earlier diagnosis and abortion post-confirmation.
• Challenges remain in achieving timely diagnosis within gestational age limits for abortion in many regions.