Epignathus or oro-pharyngeal teratoma is an extremely rare, benign congenital tumor, occurring in 1 in 35,000-200,000 live births. They usually arise from the sphenoid region of the hard palate, posterior nasopharynx, upper lip and nose, soft palate, tonsil or tongue. The typical appearance is that of a solid irregular mass containing both cystic and solid elements, protruding from the oral cavity. Their occurrence in the first trimester is extremely rare. We report a case of fetal immature orofacial teratoma detected in the first trimester and confirmed with histopathological diagnosis. The index pregnancy presented at 13 1/7 weeks of gestation. Ultrasound examination demonstrated an irregular, mixed echogenic mass with solid and cystic components protruding from the fetal mouth, between the tongue and the palate. Following extensive counselling, the couple opted for termination of the pregnancy. Histopathological examination confirmed the tumor to be an immature oral teratoma.
Fetal inguinoscrotal hernia is an uncommon occurence in the prenatal life, and published literature on it is scarce. This is a type of indirect hernia that results from abnormal migration of the small bowel into the scrotum via the patent processus vaginalis. We present a case of prenatal diagnosis of right sided fetal inguinoscrotal hernia, with contralateral hydrocele and severe fetal growth restriction confirmed as Trisomy 18 in subsequently performed chromosomal analysis. The index case presented at 35 ?2 weeks of gestation with a right sided solid scrotal mass with a regular contour, mixed echogenic texture with a few echo-free areas, a distinctive arterial supply and characteristic peristaltic movements. Fetal demise was noted one week later. The diagnosis was confirmed by postnatal examination. Prenatal diagnosis of fetal inguinoscrotal hernia should be followed up with detailed anatomical assessment and chromosomal analysis if indicated by the presence of additional abnormalities. Isolated cases require surgical repair in the neonatal period to avoid sequelae and complications.
Nonimmune fetal hydrops (NIFH) has underlying diverse etiology with generalized lymphatic dysplasia being one such cause. Lymphatic malformation-6 is a type of lymphatic dysplasia that is due to homozygous or compound heterozygous variants in the PIEZO1 gene. The clinical features associated with this condition during fetal life are nonimmune fetal hydrops that manifests with widespread lymphatic edema, with other systemic manifestations like pericardial/pleural effusions, chylothorax along with lymphangiectasia seen primarily in lungs and intestines. We present a case of recurrent NIFH in a family due to a novel pathogenic mutation in PIEZO1 gene. This variant was identified in homozygous state in all the three affected fetuses and in heterozygous state in both the parents. The couple were counseled regarding recurrence of this condition and given reproductive options for future pregnancies.
Objectives: To compare fetal and neonatal growth charts pertaining to different models (populationspecific, universal reference, universal standard and fully customised) in detecting suboptimal fetal growth in the third trimester. Methods: This was a prospective observational study conducted at two fetal medicine centers. After applying the inclusion criteria [singleton pregnancies between 28 and 40 weeks, verified dates and estimated fetal weight (EFW) B 25th centile as per the Hadlock chart], 292 women were consecutively recruited. Four fetal growth charts (Hadlock, Intergrowth, fully customised GROW, Sonocare) and three neonatal charts (Fenton, Intergrowth and fully customised GROW) were used in the study. The EFW and birthweight centiles were categorized into three groups:\ 3.0, 3.1-10th and [ 10th centiles. The charts were evaluated by their ability to detect pregnancies with uteroplacental insufficiency and/or development of adverse neonatal outcomes in the third trimester. Results: Significant difference was noted between the fetuses/neonates assigned as \ 3rd centile (Hadlock-9.3%, Sonocare-4.8%, Intergrowth-6.8% and the fully customised GROW-6.5%) and the neonatal charts (Fenton-18.5%, Intergrowth-20.2% and fully customised GROW-13.4%). At a cut-off of 3rd centile, the GROW chart had the highest sensitivity (84.2%) followed by Intergrowth (78.9%), Hadlock (70.37%) and Sonocare (64.29%). Similarly, for a cut-off of \ 10th, the sensitivity was GROW 70.27%, Sonocare 64%, Intergrowth 60.8% and Hadlock 50%. Amongst the neonatal charts, fully customised GROW chart had the greatest detection rate (\ 3rd = 74.36%, \ 10th = 70.27%). However, there was no significant difference between the charts in the detection of pregnancies with suboptimal fetal growth associated with uteroplacental insufficiency and/or adverse neonatal outcomes. Conclusion: Despite substantial discrepancy between the growth charts in diagnosing fetal smallness, adding multivessel Doppler negates significant differences between them in diagnosing suboptimal fetal growth associated with uteroplacental insufficiency and adverse neonatal outcomes.
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