Prenatal serum screening - a summary of our experience with high risk reporting

Abstract

Objective

The spectrum of pregnancy tests for screening of chromosomal disorders in the unborn child includes maternal serum testing through double, triple and quadruple marker as well as the emerging cell free fetal DNA analysis based noninvasive prenatal test. The aim of this short communication is to summarize our finding’s pertaining to high risk serum screening cases with reference to clinical indications and history.

Methods

Data of cases reported high-risk by serum screening including a total of 3368 women with median age of 32 years was included. Serum testing was done in the laboratory using the technology of Chemiluminescence micro particle two-step immunoassay for sensitive quantification of hormones routinely tested for in the double, triple and quadruple marker. Risk estimation using values of hormone levels and the resulting MoM was done using the PRISCA 5.0.2.37.

Results

A total of 16,608 samples were tested for serum screening in the study period and specific high risk analysis detected a total of 20% reported as high risk. Trisomy 21 was detected to be the most common finding at 86% followed by neural tube defects at 9%. Advanced maternal age (≥35 years) accounted for a total of 34% of the reported high risk cases.

Conclusion

The gap between absence of a nation-wide screening mandate, and guidelines for agencies involved in prenatal screening tests can be reduced with studies which focus on trends in recommendation and developing an understanding of the clinical backdrop leading to high risk screening results.

Keywords:

• Double marker
• triple marker
• quadruple marker
• maternal age
• pregnancy
• screening
• India

Acknowledgments

The authors of this study report would like to extend their thanks to the laboratory personnel involved in handling the routine serum screening samples in our NABL and CAP accredited reference laboratory including Mr. Mahendra Patil and Ms. Poonam Yedake involved in analysis and reporting using PRISCA 5.0. We would also like to thank Ms. Sneha Devi involved in verifying the high risk reports and communicating the same to the referring doctor along with recommendations for future course of action.

Disclosure statement

The authors declare no conflict of interest

Author contributions

Prachi Sinkar: Conceptualization, Methodology, Review & Editing, Supervision Sandhya Iyer: Formal analysis, Writing Original Draft Kallathikumar Kallathiyan: Data curation.

Data availability statement

Not applicable for this study.