Noninvasive prenatal testing by maternal plasma DNA analysis: current practice and future applications

Area of Science:

• Genetics
• Molecular Biology
• Obstetrics

Background:

• Prenatal screening for fetal aneuploidies and genetic diseases is crucial in antenatal care.
• Invasive diagnostic methods like amniocentesis carry a risk of miscarriage.
• Noninvasive methods are sought to overcome the risks associated with invasive prenatal diagnosis.

Purpose of the Study:

• To explore noninvasive methods for sampling fetal genetic material.
• To review the development and application of cell-free fetal DNA analysis in prenatal diagnosis.
• To discuss the future clinical availability and implications of noninvasive prenatal tests.

Main Methods:

• Detection of cell-free fetal DNA in maternal blood circulation.
• Analysis of circulating fetal DNA for chromosomal aneuploidies and single gene diseases.
• Application of cell-free circulating fetal DNA analysis to molecular karyotype, genome, and methylome deciphering.

Main Results:

• Cell-free fetal DNA in maternal blood provides a noninvasive source of fetal genetic material.
• DNA-based noninvasive tests for Down syndrome and single gene diseases have been successfully developed.
• Commercial noninvasive prenatal tests for chromosomal aneuploidies became available starting in late 2011.

Conclusions:

• Noninvasive prenatal testing using cell-free fetal DNA is a safe and effective advancement in antenatal care.
• The scope of noninvasive prenatal testing is expanding to include molecular karyotyping, genome, and methylome analysis.
• Ethical, social, and legal considerations are important for the integration of these advanced noninvasive prenatal tests.