Giant placenta chorioangioma with postpartum bleeding and uterine atony

Chorioangioma is the most commonly occurring vascular, non-malignant placental tumor in pregnancy, with a reported incidence of 1% in all examined placentas. Nonetheless, real tumor incidence remains unknown because of small specimen sizes, which contributes to a lack of detection throughout the entire gestational period. Prenatal detection and diagnosis may be possible with ultrasound screening; however, most placental chorioangioma diagnoses are postnatal, based upon histopathological studies. This article report the case of postnatal diagnosis and associated complications in a 35-year-old patient with a 6 cm × 4 cm × 4 cm placental chorioangioma.

RARE COLORECTAL MALFORMATIONS IN NEWBORNS. LITERATURE REVIEW AND OWN OBSERVATIONS

The article presents literature data andown observations of some rare congenital malformationsof the colorectal area in newborns that require surgicaltreatment. These are defects such as congenital pouch colonand congenital segmental dilatation of the colon. Thereare isolated cases of birth of children with these defectsin European countries and North America. They are morecommon in Asian countries, especially in India. Diagnosisand surgical correction of such congenital malformationscause difficulties associated with insufficient awarenessof pediatric surgeons, neonatologists, pediatricians aboutthis pathology. Data is presented on clinical manifestations,antenatal and postnatal diagnosis and treatment tactics, aswell as the histopathological structure of the affected colonin these defects.The analysis of literature data and the presented clinicalobservations of congenital pouch colon and congenitalsegmental dilatation of the colon in newborns indicate thepossibility of their antenatal and preoperative diagnosis.It is concluded that children with anorectal malformationsand Hirschsprung's disease require a thorough differentialdiagnosis with congenital pouch colon and segmentaldilatation of the colon, as the tactics of their surgicalcorrection significantly differ from the treatment tacticsof common anorectal malformations and Hirschsprung'sdisease surgical management.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a prenatal diagnosis of polycystic kidney disease are presented in this article. TMEM67 mutations were identified in both fetuses using a whole-exome sequencing (WES) study. In one of them, the phenotypic syndrome diagnosed prenatally was different from that diagnosed in the postnatal period.

Postnatal diagnosis of harlequin ichthyosis a case report

Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked to a poor prognosis and a high mortality rate. Prenatal ultrasound and genetic analysis were critical for prenatal diagnosis of HI, but genetic modalities were not available and were prohibitively costly, despite their utility in providing appropriate prenatal therapy to families with HI babies. This case was recorded because of its rarity, as well as to draw attention to the connection between.

Neonatal Bone Disorders

Neonatologists care for newborns with either an antenatal suspicion or postnatal diagnosis of bone disease. With improved ultrasound imaging techniques, more cases of neonatal bone disorders are identified antenatally and this requires further diagnostic/molecular testing either antenatally or soon after birth for confirmation of the diagnosis and facilitating subsequent management. Prompt diagnosis is vital in certain conditions where initiation of treatment is time critical and life saving. We outline an approach to diagnosis, investigation, and management of a neonate with a suspected bone disorder.