Maternal plasma biomarkers for down syndrome: present and future

Area of Science:

• Genetics
• Obstetrics
• Biochemistry

Background:

• Down syndrome (trisomy 21) is a leading cause of intellectual disability, necessitating effective prenatal screening.
• Current screening involves maternal plasma/serum tests and ultrasound, with a growing interest in noninvasive methods.
• Analysis of cell-free fetal DNA in maternal plasma shows promise for genetic diagnosis, but routine noninvasive prenatal diagnosis for trisomy 21 is not yet established.

Purpose of the Study:

• To review recent advancements in identifying maternal plasma biomarkers for Down syndrome screening.
• To discuss the potential role of these biomarkers in future noninvasive prenatal diagnostics.
• To highlight the challenges and emerging trends in prenatal screening for trisomy 21.

Main Methods:

• Comparative proteomics techniques were employed to analyze maternal plasma from pregnancies with normal and trisomy 21 fetuses.
• Studies assessed various gestational ages to identify potential protein biomarkers.
• Over 100 candidate biomarkers have been reported in the literature.

Main Results:

• Numerous potential biomarkers for trisomy 21 have been identified through proteomic analysis of maternal plasma.
• Limited consensus exists among identified biomarkers, potentially due to overlapping profiles with other neurological disorders.
• The development of noninvasive prenatal diagnosis based on free fetal DNA is progressing rapidly.

Conclusions:

• Maternal plasma biomarker screening remains a crucial front-line test for assessing the risk of aneuploidy.
• Future prenatal diagnostics will likely integrate next-generation sequencing of free fetal DNA with biomarker analysis.
• Further research is needed to establish reliable and consensus biomarkers for routine noninvasive prenatal screening of Down syndrome.