Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

Abstract

Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.

Additive Manufacturing Techniques for the Reconstruction of 3D Fetal Faces

“…Also, this method is valid when there is no need to reconstruct internal bone structures such as presented in [ 17 – 19 ] where, to better study the case of different fetal pathologies, authors recommend to use procedures supplementing information from ultrasound images with information coming from CT and/or MRI scans.…”

“…Also, the use of 3D fetal printing is considered as a support for both physicians and parents. In fact, physicians may use 3D models reconstructed from ultrasound, CT, and/or MRI data sets, for the representation of specific pathologies that would prepare them for dealing with different clinical scenarios of the future newborn [ 17 – 19 ], while parents can get ready to receive their newborn more consciously.…”

“…Recent studies [ 17 – 19 , 23 , 24 ] have shown that 3D modeling of ultrasound, MRI, and CT imaging can help physicians in prenatal screening of complex fetal anatomies and/or pathologies, for example, airway disorders, spinal or neurological injuries, and cleft lip [ 25 , 26 ], and it can also help mothers in reducing the stress and anxiety of “not knowing well” possible deformations [ 27 ]. Pregnancy also appears to be a period of strong change for men, although it is slower and more indirect than for women.…”

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

“…In animal models, agnathia otocephaly has been seen spontaneously in teratogen exposure e.g., irradiation, hyperthermia, trypan blue and streptonigrin [ 1 , 24 , 25 ]. Furthermore, case reports in humans have demonstrated cases of AOC associated to the exposure to salicylates, alcohol, radiation, oxymetazoline, mycophenolate, phenytoin, amidopyrine and beclomethasone [ 1 , 5 , 6 , 26 ].…”

Three-dimensional ultrasound in fetal medicine after 25 years in clinical practice: many advances and some questions

“…They conclude that the physical 3D models allow greater interaction between the parent(s) and the fetus, as well as representing a method of continuing medical education. Since 2010, this research group has conducted a number of studies proposing the use of virtual and physical 3D models-based on data obtained with 3D-US, MRI, and CT-in the evaluation of various fetal malformations (11,14) , intrauterine infections (15,16) and maternal-fetal interaction in blind couples (17) . In all of those studies, the 3D models have allowed a better understanding of fetal disease by the medical team and by the parents, as well as enabling greater maternal-fetal interaction.…”