Evaluation of the Fetal Face in the First Trimester

First‐Trimester Diagnosis of Agnathia‐Otocephaly Complex: A Series of 4 Cases and Review of the Literature

“…With current US technology and the use of high-resolution transvaginal scanning at this gestational age, it is possible to perform a detailed examination of the fetal face to aid in the early diagnosis of several orofacial anomalies. [2][3][4] However, reports on the detection of abnormalities of the lower fetal face in the first trimester have been mainly limited to cases of severe micrognathia. [2][3][4][5][6] In this report, we describe a series of 4 cases of agnathia-otocephaly complex diagnosed by 2-dimensional (2D) and 3-dimensional (3D) US in the first trimester of pregnancy.…”

“…[2][3][4] However, reports on the detection of abnormalities of the lower fetal face in the first trimester have been mainly limited to cases of severe micrognathia. [2][3][4][5][6] In this report, we describe a series of 4 cases of agnathia-otocephaly complex diagnosed by 2-dimensional (2D) and 3-dimensional (3D) US in the first trimester of pregnancy. To determine the first-trimester pattern of detectable US features of this complex malformation, the literature was also reviewed for similar cases.…”

Basic sonographic examination of the fetal brain at 11–13 weeks' gestation: Rationale for a simple and reliable four‐step technique

“…13,14 The sagittal and coronal planes are also important for evaluating the fetal face and palate when a CNS malformation such as holoprosencephaly is detected. [15][16][17]…”

“…Reference ranges for first‐trimester BPD and HC measurements are available 13,14 . The sagittal and coronal planes are also important for evaluating the fetal face and palate when a CNS malformation such as holoprosencephaly is detected 15–17 …”

Cleft Lip and Cleft Palate

“…Therefore, the evaluation should also include the visualization of the upper lip, the alveolar ridge, the maxillary bone and the vomer on sagittal and axial planes. The RNT and maxillary gap markers seem to be the most useful and feasible combination for the first‐trimester ultrasound screening of CL/CP, which can be easily incorporated into the routine first‐trimester assessment of the fetal anatomy. Application of three‐dimensional ultrasound techniques such as the Volume NT™ algorithm, reslicing techniques such as OmniView™ or OVIX™, or radiologic rendering using tomographic ultrasound imaging‐TUI TM or Multi‐Slice View™, allow the volume to be reformatted and displayed in nine slides on the ultrasound apparatus screen, aiding the anatomic orthogonal evaluation of the facial structures and complementing the information in doubtful cases 14,15,30 . Three‐dimensional surface rendering with HDlive TM mode can also provide high‐quality, illustrative images of facial defects, including CL 3,4,14 Although analysis of the current literature demonstrates an increasingly higher performance of first‐trimester ultrasound in the detection of orofacial clefting, it should be borne in mind that the introduction of these methodologies requires appropriate training in visualizing the maxillo‐facial structures and rely on the supervision of adequately trained professionals. Considering that over the last 30 years obstetric sonographers have become familiar with the first‐trimester screening scan at 11–14 weeks, performed according to the recommendations of the Fetal Medicine Foundation UK guidelines, 31 and that the fetal mid‐face and the hard palate lie within the region of interest, scientific ultrasound societies should be called upon to reinforce the screening of facial clefting from the first trimester onwards. …”