Early detection of fetal malformations is crucial for timely intervention and management in obstetric care. Existing screening methods may have limitations, prompting the exploration of novel approaches to improve detection accuracy.

This retrospective study explores an efficient fetal malformation screening method, aiming to provide a reference for obstetric examination.

A total of 511 puerperae who underwent standardized ultrasound examinations in our hospital's first trimester from December 2020 to August 2022 were enrolled. Ultrasound was used to detect the thickness of the nuchal translucency (NT) in all puerperae during prenatal examination. The clinical values of detection indices in maternal prenatal physical examination were analyzed.

A total of 511 puerperae were investigated, and 12 malformed fetuses were detected, presenting a fetal malformation rate of 2.35%, including 3 cases of head and neck hydrocele, 2 cases of megacystis, 3 cases of anencephaly, and 4 cases of omphalocele. Among 499 normal fetuses, NT thickness > 3.0 mm accounted for 3.41%, while among the 12 malformed fetuses screened, NT thickness > 3.0 mm accounted for 75.00%, and there was a statistical difference between the two groups (Chi-square = 124.374, P < 0.05). Using ultrasound for fetal malformation screening revealed that the fetus with NT thickness value above 3.0 mm performed better in ultrasound screening (>3.0: AUC of 0.904; >3.5: AUC of 0.928; >4.0: AUC of 0.944 vs. >2.0: AUC of 0.863; >2.5: AUC of 0.878).

The findings underscore the critical clinical significance of NT thickening as a promising ultrasound soft index for screening fetal malformations. Beyond aiding in clinical diagnosis and postpartum treatment, the potential applications of these findings hold immense practical value. They pave the way for enhanced prenatal and postnatal care practices, emphasizing the translation of research outcomes into tangible benefits for healthcare providers and expectant parents alike.

The prenatal diagnosis of epignathus presents a unique challenge for physicians. Differential diagnosis is usually based on the anatomic location of the tumor. Typical prenatal ultrasound characteristics of epignathus include a mixed solid and cystic lesion with vascularity in the solid component, originating from the hard or soft palate, and it is often associated with other anomalies such as craniofacial clefts or trans-sphenoidal intracranial extension. Herein, we present a case of prenatal diagnosis of epignathus with rare ultrasonographic findings, prenatal management requiring collaborative efforts of a multidisciplinary team, and a well-planned innovative ex utero intrapartum treatment procedure. In addition, this report highlights the evolving postnatal diagnosis of the rare developmental anomaly, duplication of the pituitary gland-plus syndrome, which includes various midline craniofacial, central nervous system, spinal, and endocrine abnormalities.

Fetal teratomas, though rare, represent a significant proportion of tumors arising during fetal development. These tumors arise from pluripotent cells and can present in varying degrees of severity, ranging from incidental findings to life-threatening conditions. Prenatal imaging, via ultrasound and MRI, is necessary for diagnosis and risk assessment. The management of fetal teratomas, particularly those associated with complications like hydrops or airway obstruction, often requires a multidisciplinary approach. Interventions such as ex-utero intrapartum treatment (EXIT) procedures and minimally invasive alternatives have emerged as critical tools to improve neonatal outcomes in severe cases. Despite advances in fetal therapies, careful prenatal monitoring and individualized management remain essential, especially for tumors with high vascularity or those that risk compromising cardiac output. This review explores the diagnostic methods, management strategies, and outcomes associated with fetal teratomas, highlighting recent advancements that contribute to improving survival and reducing morbidity in affected neonates.

Facial teratoma is a rare benign tumor that accounts for about 1.6% of all teratomas and can be diagnosed by prenatal ultrasound (US). The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma.

We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department. Case 1 was a 31-year-old G3 P1 + 1 female, with US revealing a heterogeneous echogenicity of 32 mm × 20 mm × 31 mm on the fetal face, most of it located outside the oral cavity and filling the root of the oral cavity. Case 2 was a 29-year-old G1P0 female, with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm × 33 mm × 44 mm, the upper edge of the lesion reaching the palate and filling the oral cavity. The contours of the lesions were visualized using three-dimensional (3D) US imaging. Both patients decided to give up treatment. Biopsies of the lesions were performed after induction of labor, and diagnosed as maxillofacial teratoma.

Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy, allowing parents to expedite treatment decisions.

Fetal lingual tumors are very rare, and their early prenatal diagnosis is important for defining the subsequent therapeutic strategy. In this study, we aimed to describe a case of a congenital septate lingual cyst and perform an extensive literature review on two main databases (PubMed, Web of Science), analyzing the clinical manifestations, the imaging appearance, the differential diagnosis, and particularities regarding the treatment of these tumors. The electronic search revealed 17 articles with 18 cases of mixed heterotopic gastrointestinal/respiratory oral epithelial cysts that met the eligibility criteria and were included in this review. The clinical case was diagnosed prenatally during second-trimester screening. On the eighth day of life, the fetus underwent an MRI of the head, which revealed an expansive cystic process on the ventral side of the tongue with the greatest diameter of 21.7 mm, containing a septum of 1 mm inside. On the 13th day of life, surgery was performed under general anesthesia, and the lingual cystic formation was completely excised. The postoperative evolution was favorable. The histopathological examination revealed a heterotopic gastric/respiratory-mixed epithelial cyst with non-keratinized respiratory, gastric squamous, and foveolar epithelium. The lingual cyst diagnosed prenatally is an accidental discovery, the differential diagnosis of which can include several pathologies with different degrees of severity but with a generally good prognosis.

A pregnant woman had a normal second-trimester anatomic survey at 22 weeks gestation. She was revealed to have a fetal oral mass with polyhydramnios and invisible stomach bubble by ultrasound at 28 weeks. A 50 mm × 36 mm × 42 mm, solid mass was found in the fetal mouth, filling the entire oral cavity. Fetal magnetic resonance imaging showed a homogeneous solid mass in the oral cavity compressing the hypopharynx. At 33 weeks, preterm labor occurred because of the continuation of increased amniotic fluid volume, and a female infant was vaginally delivered. The infant died shortly after tracheal intubation attempt failed. Autopsy confirmed the prenatal sonographic finding. The final pathologic diagnosis was oral immature teratoma. Our study indicates that although oral teratomas are rare, they are readily apparent at prenatal sonographic examinations. Respiratory compromise is the frequent complication of oral teratomas, which is associated with high perinatal mortality.