Noninvasive prenatal diagnosis: past, present, and future

Area of Science:

• Fetomaternal medicine
• Genetics
• Molecular biology

Background:

• The concept of fetal cells in maternal circulation dates back to Georg Schmorl's observations.
• Advances in molecular biology have identified cell-free fetal DNA and fetal messenger RNA in maternal plasma.
• These circulating nucleic acids are key to noninvasive prenatal diagnosis.

Purpose of the Study:

• To explore the diagnostic and screening potential of fetal cells, cell-free fetal DNA, and fetal messenger RNA.
• To investigate the role of these biomarkers in preeclampsia, intrauterine growth restriction, and preterm labor.
• To improve the diagnosis and management of high-risk pregnancies.

Main Methods:

• Analysis of fetal cells in maternal circulation.
• Detection and analysis of cell-free fetal DNA in maternal plasma.
• Detection and analysis of fetal messenger RNA in maternal plasma.

Main Results:

• Fetal cells, cell-free fetal DNA, and fetal messenger RNA are detectable in maternal circulation.
• These biomarkers originate from the placenta and can indicate placental dysfunction.
• Their analysis is being developed for diagnostic and screening purposes.

Conclusions:

• Circulating fetal nucleic acids represent a significant advancement in noninvasive prenatal diagnosis.
• These biomarkers hold promise for early detection and management of pregnancy complications.
• Further research may enhance diagnostic capabilities for high-risk pregnancies.