Pancake kidney results from failure of the kidneys to ascend, which may lead to fusion of the two renal masses. Reviewing the literature, this is the first case of antenatal diagnosis from India. No other associated extrarenal abnormalities were found. Postnatal follow up was also performed which confirmed the antenatal diagnosis.

We report a case of a pregnancy involving a fetal neck mass which was diagnosed at 19 weeks of gestation. Three dimensional ultrasound provided detailed additional information about the extent of the lesion and the areas of involvement. Color Doppler revealed intense vascularity within the lesion, with both arterial and venous flow. Fetal MRI revealed the exact extent of the lesion along with deep seated structures involved. Diffusion weighted images revealed restricted diffusion with low ADC values suggesting a mitotic etiology. The patient along with her husband decided to abort the fetus. An infantogram of the abortus was taken. Histopathology and immunohistochemistry was performed. The final diagnosis was immature teratoma.

We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings. The antenatal findings were confirmed clinically as well as with a postnatal follow-up X-Ray (infantogram) of the baby. Trio whole-exome sequencing was performed for the child as well as both the parents, which did not reveal any clinically significant variant that could explain the patient’s phenotype.

Intracranial extracerebral ectopic brain tissue, also called glioneuronal heterotopia, is a rare developmental disorder. These lesions are predominately seen at the base of the brain in the supratentorial region and are frequently associated with craniofacial anomalies. We report prenatal ultrasonographic and magnetic resonance imaging (MRI) findings of isolated extracerebellar ectopic brain tissue in the posterior fossa of a 22 weeks fetus.

Purpose Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. Methods We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. Results 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo‐esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non‐isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC‐E gene confirming fanconi anemia. Twelve cases were unclassified. Conclusion Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first‐tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.