An Uncommon Recurrent Metastasis of Ovarian Immature Teratoma to the Small Bowel

Immature ovarian teratomas are rare ovarian germ cell tumors associated with a variable potential of distant metastasis. The acquisition of mature phenotypes upon post-treatment recurrence of immature teratomas has been previously described. In this study, we report, for the first time, a rare case of a recurrent ovarian immature teratoma with mature deposits in the small bowel. An incidental pelvi-abdominal mass was identified in a 30-year-old pregnant patient during antenatal ultrasonography. The mass, which was resected through salpingo-oopherectomy, was histopathologically characterized as an immature teratoma of grade 2 and treated with 3 cycles of chemotherapy. After 3 years of completing treatment, the patient suffered from severe anemia which was investigated by capsule endoscopy that identified a bleeding source in the ileum. Imaging studies revealed an intrabdominal mass that was resected laparoscopically. The pathological assessment of the mass identified a submucosal/intramuscular teratoma with mature elements indicative of a recurrent metastasis of immature teratoma associated with post-chemotherapy retroconversion. The secondary mass was then managed with adjuvant chemotherapy.

Changing indications of prenatal diagnosis in molecular era: experience of single centre in North India

Background: About 3-5% of pregnancies are complicated by chromosomal aberrations and birth defects. In the past prenatal genetic testing is identified to be largely restricted to the detection of chromosomal abnormalities like aneuploidy. With advances in the field of medical genetics, there has been substantial rise in use of prenatal genetic testing and we wanted to find out the same in our cohort of patients.Methods: Study design was retrospective, single-center observational study. Pregnant patients who underwent invasive testing for prenatal genetic disorder at fetal medicine specialty were considered for inclusion in the study. The invasive procedures that were performed in our study were amniocentesis, chorionic villous sampling (CVS) and cordocentesis.Results: Total 515 pregnant women underwent prenatal testing. Amniocentesis was the most common procedure to be performed accounting for about 74% of total cases. In our cohort, abnormal aneuploidy screening was the most common indication for performing prenatal diagnosis (64% of cases), while 12.8 % underwent prenatal diagnosis due to abnormalities/genetic disorder in previous child. Abnormalities in antenatal ultrasonography accounted for 16% of cases. Quantitative fluorescene polymerase chain reaction, rapid aneuploidy testing (QFPCR) was performed in all the cases. Karyotype was performed in 273 cases while chromosomal microarray was performed on 92 samples. Multiplex ligation dependent probe amplification (MLPA) was done for 15 patients. Targeted mutation testing (Sanger sequencing) was done on 121 prenatal samples. Exome sequencing was performed on 14 fetuses. Out of 515 a total of 79 fetuses (15.3%) were found to have genetic disorder. Aneuploidies were identified in 11 fetuses (2.1%), 12 fetuses (2.3%) were found to have pathogenic CNVs (Copy number variants). Single gene disorders were found in 56 fetuses (10.8%). Conclusions: We have moved very rapidly from Karyotyping to chromosomal microarray to exome sequencing. There has been rapid change in the indications for prenatal Diagnosis from yesteryears with coming of new era of genetics.

Newborn pulse oximetry screening for critical congenital heart defects

We looked at existing recommendations and supporting evidence addressing the effectiveness of pulse oximetry effective for detecting critical congenital heart defects (CCHDs) in newborns. We also looked at the impact of timing of oximetry and the site of testing in the accuracy of screening, and at the potential harms and limitations of pulse oximetry screening,We conducted a literature search up to the 13th of August 2019 by using key terms and manual search in selected sources. We summarized the recommendations and the strength of the recommendation when and as reported by the authors. We summarized the main findings of systematic reviews with the certainty of the evidence as reported.Current evidence supports consistent accuracy for detection of CCHDs in newborns by pulse oximetry screening in addition to antenatal ultrasonography and clinical examination. Overall, early diagnosis of CCHD with pulse oximetry is judged to be beneficial and cost-effective, and potential harms associated with false-positive tests are not serious, while missing CCHDs and other serious diseases detected by hypoxaemia in absence of pulse oximetry screening can lead to serious consequences. The site of testing (post-ductal versus pre- and post-ductal) had no significant effect on sensitivity nor specificity for detection of CCHDs.

EARLY OUTCOME ANALYSIS OF NEURAL TUBE DEFECTS PRESENTING IN NEONATAL PERIOD: OUR EXPERIENCE

Background: Neural tube defects (NTDs) are congenital malformation resulting from failure of complete or partial closure of the neural tube in developing embryo. Aims and Objectives: The aim of this study is to present our experience, management and early outcomes (one month post-operatively) of neural tube defects presenting in neonatal period at our high volume tertiary care teaching Institutions. Materials and methods: This retrospective cohort study was conducted over a period of 10 years from January 2007 to December 2016. Medical records of neonates treated for neural tube defects were recorded in a pre-designed Performa. Results: A total of 286 patients with clinically diagnosed neural tube defects presenting in the neonatal period were studied. Male: female ratio was 1.11. The mean birth weight was 2350g. History of peri-conceptional use of folic acid was found in 15 (5.24%) mothers. One hundred seventeen (40.90%) of the patients had multiple system involvement. Most common was orthopedic deformities. Associated hydrocephalus was appreciated in 259 (90.56%) patients. Meningomyelocele was the most common anomaly seen in 239 (83.57%), 24 (8.39%) as meningocele and 23 (8.04%) were diagnosed as having Encephalocele. Surgery with decapping and repair was performed in 277 (96.85%) of the patients. Ventriculoperitoneal (VP) shunt operation before repair of meningomyelocele was performed in 9 (3.15%) patients, while in 19 (6.64%) patients, VP shunt operation was performed after the repair of NTD's in the early (one month) postoperative period. Clinical sepsis developed in the postoperative period in twenty one (7.58%) out of 277 patients, for which antibiotics were stepped up. Thirteen patients (4.69%) died postoperatively due to sepsis and associated anomalies. Conclusions: We present our retrospective report on neural tube defects from Indian subcontinent with accurate baseline data. Meningomyelocele was the most common type of NTD's. We recommend that folic acid supplementation should begin before marriage to raise its serum levels before the conception. Antenatal care especially antenatal ultrasonography must be contemplated as early as possible in early detection of NTDs.

Giant Ovarian Serous Cystadenoma in an Infant: Report of a Rare Case

The incidence of abdominal cysts in infants is 1 in 500 to 1 in 1,000 live births. Among the ovarian cysts in infants, serous cystadenoma is extremely rare with only few reported cases in the literature. Here, we report a case of a giant neonatal ovarian serous cystadenoma treated with laparoscopic cystectomy and confirmed by histopathological examination.A 27-year-old delivered a female baby with uneventful caesarean section at full term. The antenatal ultrasonography (USG) in third trimester had showed an abdominal cyst in the left side of the abdomen. Postnatal USG was suggestive of omental cyst. A contrast-enhanced computed tomography scan of the neonate showed a large cyst occupying the entire abdomen. On laparoscopic evaluation, a cystic mass filled with 500 mL of clear yellow fluid was seen in the left pelvic fossa. Left ovary could not be visualized separately. The right ovary, fallopian tubes, and uterus were normal. The entire cyst was removed and sent for histopathological examination. On gross examination, a unilocular cyst measuring 10×8×6.5 cm with a wall thickness of 0.2 cm was noted. On microscopic examination, the histomorphological features were consistent with serous cystadenoma of the ovary. There is a paucity of literature regarding pathological diagnosis of such cases and hence we report one such case.

A CASE REPORT: PRENATAL DIAGNOSIS OF FETAL CARDIAC RHABDOMYOMA

Fetal cardiac rhabdomyoma is a rare disease, and most of the cases are detected incidentally during the antenatal ultrasound. This is a case discovered during antenatal ultrasonography at 29 weeks of gestation. Multiple hyperechoic round shape masses were seen in the cardiac. After birth, the baby had been under a paediatric cardiologist follow-up with regular echocardiography. Management was mainly conservative at the time being as there was no sign of obstruction.

Functional outcome after neonatal pyeloplasty in antenatally diagnosed uretero-pelvic junction obstruction

Background With routine antenatal ultrasonography, fetal hydronephrosis is commonly diagnosed. This leads to early detection of postnatal uretero-pelvic junction obstruction which may require surgical intervention. But, there is no clear consensus in the benefits of operating these patients in the neonatal age. Methods Aim—To study the functional outcome after pyeloplasty in neonates with antenatally diagnosed unilateral uretero-pelvic junction obstruction (UPJO). Records of all neonates (N = 48) who presented between 2016 and 2018 with prenatal diagnosis of unilateral UPJO and underwent a Anderson-Hyne’s Pyeloplasty were retrospectively analyzed. Indications for surgery were SFU grade 3 or 4, a split renal function (SRF) < 40% on a diuretic renal scan and antero-posterior renal pelvic diameter (APD) > 2.5 cm with parenchymal thinning. Parenchymal thickness (PT) and APD measured by ultrasonography, and SRF measured by 99 m Tc-EC renal scan were compared before and after surgery. Results Our study comprised of 48 patients with 79.2% males (n = 38). UPJO affected the left side more (n = 30, 62.5%). The mean age at pyeloplasty was 28 days (range 26–30). The outcome was considered successful in 46 (95.84%) patients. The APD decreased from a mean of 3.5 cm APD preoperatively to 1.38 cm 1 year later which was statistically significant (p < 0.001). The PT increased from 3.95 to 7.1 mm 1 year postoperatively which was significant (p < 0.001). The drainage pattern and SRF improved in 46 (95.84%) patients. The SRF improved from a mean of 35.48–44.7% 1 year postoperatively which was significant (p < 0.001). Conclusion Pyeloplasty done in the neonatal age for prenatally diagnosed UPJO, having SFU grade 3–4 UPJO, leads to significant improvement of SRF and PT with minimal complications. Neonatal Pyeloplasty for significant UPJO is a safe procedure which provides the kidney maximum opportunity to improve function.

Prenatal Ultrasonographic and Magnetic Resonance Imaging Diagnosis of Occipital Meningio-Encephalocele- An Interesting Case Report

Meningo encephalocele is a congenital anomaly and is a neural tube defect with occipital meningo encephalocele being the most common and is a result of a failure of the surface ectoderm to separate from the neuroectoderm. This condition can be identified in 1st trimester in 80% of cases and almost all by 2nd trimester. A 20-year-old third gravida was referred for antenatal Ultrasonography at five months of amenorrhoea to rule out fetal anomalies. On targeted imaging, for fetal anomalies, a defect was seen in occipital bone with herniation of posterior fossa contents with overlying meningeal covering. No other fetal anomalies were noted. A diagnosis of isolated occipital meningoencephalocele was made with additional fetal MRI correlation. The mother underwent termination of her pregnancy by Department of Obstetrics and Gynecology because of the grim fetal prognosis. The mother was advised to plan the subsequent pregnancies and was advised pre-conceptional folic acid supplementation. We present a case of isolated occipital meningoencephalocele- a rare congenital anomaly which was diagnosed prenatally in our hospital. This case provides an opportunity for identifying such neurological defects early and prompt termination of pregnancy to prevent comorbidity to mother. This study also helps to establish occipital meninigioencephalocele as an isolated clinicoradiological diagnosis and to distinguish it from syndrome associated occipital meninigioencephalocele or those associated with other neural tube defects like Chiari III malformations. It also allows us to stress once again the role of periconceptional folic acid in preventing the occurrence of neural tube defects.

Antenatal Ovarian Torsion Presenting With Features of Intestinal Obstruction in a Neonate

With the advent of antenatal ultrasonography (USG), detection of neonatal intra-abdominal cystic lesions is on the rise. We present a neonate who was detected antenatally to have a cystic lesion per abdomen and presented with features of intestinal obstruction on first postnatal day. Emergency exploratory laparotomy revealed a left torsed ovarian cyst compressing the ileoceacal junction. Left oophorectomy was done and ovarian torsion was confirmed by histopathology examination. The USG abdomen at six months follow up showed a well visualised right ovary.

Fetal Magnetic Resonance Imaging (MRI) in Holoprosencephaly and Associations With Clinical Outcome: Implications for Fetal Counseling

Holoprosencephaly is the most common malformation of forebrain development and includes a wide spectrum of severity. The objective of this retrospective study was to evaluate fetal magnetic resonance imaging (MRI) associations with outcome. Of the 63 cases identified on antenatal ultrasonography, 28 cases were confirmed on fetal MRI. There were 17 live births; 9 patients died within the first month of life. There were 7 survivors. The vast majority were nonambulatory and required feeding support; none required respiratory support. We found that presence and number of non–holoprosencephaly-associated malformations was also associated with survival. Of 5 patients with 3 or more systemic anomalies, 4 died regardless of holoprosencephaly subtype and 1 was lost to follow-up. Patients with suspected holoprosencephaly on ultrasonography should have full body fetal MRI and echocardiogram to better evaluate systemic anomalies. Counseling should involve pediatric palliative care services to prepare families in caring for babies with limited life span.