Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics.

Area of Science:

• Prenatal Medicine
• Genetics
• Medical Diagnostics

Background:

• Early and accurate diagnosis is vital in prenatal medicine.
• Non-invasive screening combines sonographic markers and maternal serum biochemical parameters.
• Invasive prenatal diagnosis utilizes chorionic villi culture and interphase multi-colour-fluorescence in situ hybridisation (M-FISH).

Purpose of the Study:

• To highlight the advancements in prenatal diagnostic tools.
• To emphasize the role of interphase M-FISH in detecting fetal aneuploidies.
• To discuss the application of M-FISH in preimplantation genetic diagnosis (PGD).

Main Methods:

• Utilizing specific sonographic markers and maternal serum biochemical parameters for first-trimester risk screening.
• Employing interphase multi-colour-fluorescence in situ hybridisation (M-FISH) on uncultured amnion cells for rapid aneuploidy detection.
• Leveraging M-FISH for diagnosis in single cells, including preimplantation diagnosis.

Main Results:

• Non-invasive screening has significantly improved sensitivity in early pregnancy.
• Interphase M-FISH provides a reliable method for rapid detection of fetal aneuploidies.
• M-FISH is effective for diagnosing chromosomal abnormalities in single cells for PGD.

Conclusions:

• Interphase M-FISH is a valuable tool for rapid prenatal and preimplantation genetic diagnosis.
• The availability of commercial probe sets has expanded the use of M-FISH.
• M-FISH enhances the accuracy and speed of diagnosing chromosomal abnormalities.