Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature.

This research paper primarily reports on the case of a fetus with alobar holoprosencephaly and trisomy 13, diagnosed via a two-dimensional (2D) ultrasound. The fetus was born to a mother with gestational diabetes mellitus and obesity, factors previously unreported in similar conditions.

Research Context

• Alobar holoprosencephaly is a severe brain malformation that occurs due to an early halt in brain cleavage and rotation.
• Trisomy 13, also known as Patau syndrome, is a genetic condition characterized by the presence of an extra chromosome 13.
• This case study presents a unique intersection of these two conditions alongside maternal factors such as gestational diabetes mellitus and obesity.

Research Method

• The case presented pertains to a fetus diagnosed prenatally with alobar holoprosencephaly at 40 weeks of gestation via 2D sonography.
• The observed fetus also exhibited other defects such as cyclopy, proboscis, cardiac defects, and defects in the extremities.
• Chromosomal analysis and fetus autopsy confirmed the original diagnosis and further revealed trisomy 13.

Findings

• The mother’s condition of gestational diabetes mellitus and obesity were notable contributing conditions.
• The fetus was found to have cyclopy, proboscis, a proboscis-like nose, claw hands, and equine feet, consistent with trisomy 13 (Patau syndrome).
• The newborn passed away immediately after birth, confirming its inability to survive given the severity of the conditions in place.

Conclusions and Significance

• This research report is unique as no previous clinical case has reported a fetus with trisomy 13 and maternal gestational diabetes.
• It is also the first report describing the use of a 2D ultrasound diagnosis for alobar holoprosencephaly and trisomy 13 in the context of maternal gestational diabetes mellitus.