Maxillary length in euploid and aneuploid fetuses

Area of Science:

• Medical imaging
• Prenatal diagnostics
• Genetics

Background:

• Aneuploidy, such as trisomy 21, 18, 13, Turner syndrome, and triploidy, can be detected through prenatal screening.
• Maxillary length is a potential biometric marker for fetal development.

Purpose of the Study:

• To investigate and compare the maxillary length in euploid and aneuploid fetuses during the second and third trimesters of pregnancy.

Main Methods:

• A retrospective analysis of 2D fetal profile images from the University of Tuebingen.
• Measurement of the maxilla length using a defined linear method.
• Comparison of maxillary lengths between euploid fetuses and those with various aneuploidies.

Main Results:

• The study included 347 euploid and 122 fetuses with trisomy 21, among other aneuploidies.
• Significantly shorter maxilla length was observed in fetuses with trisomy 21, 18, 13, and triploidy compared to euploid fetuses.
• Maxilla length was below the 5th percentile in a notable percentage of fetuses with trisomy 21.

Conclusions:

• While fetuses with trisomy 21, 18, 13, and triploidy exhibit shorter maxilla lengths, the variability makes it an unlikely standalone screening tool for aneuploidy.
• Further research may explore combined biometric markers for improved aneuploidy screening.