Cloacal Dysgenesis Sequence

This article presents a rare case of cloacal dysgenesis sequence (CDS) detected at 23 weeks of gestation in a 36-year-old woman’s first ongoing pregnancy. The fetal ultrasound demonstrated anhydramnios, megacystis, the “keyhole sign” and empty bilateral renal fossae, findings consistent with the fetal obstructive uropathy (FOU). A subsequent postmortem carried out confirmed a diagnosis of a cloacal dysgenesis sequence, characterized by the absence of anal, genital and urinary openings with intact perineum covered by smooth skin and a phallus-like structure

Bilateral Renal Ectopia—Prenatal Diagnosis

This report explores the diverse spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), ranging from asymptomatic presentations to the most severe form characterized by bilateral renal agenesis. Genitourinary anomalies, a prevalent subset within this domain, account for a significant proportion, constituting 15–20% of anomalies identified during prenatal screening. An ectopic kidney is defined by the presence of an empty renal fossa and the displacement of the kidney from the lumbar region to alternative locations, with the pelvic region emerging as the most prevalent site. The reported case involves bilateral renal ectopia with unilateral duplex kidney. Initial suspicions of a renal anomaly arose during the first trimester, leading to a definitive diagnosis in the second trimester. The patient underwent regular monitoring every four weeks, ultimately delivering a healthy baby at term. This case underscores the frequency of renal anomalies, emphasizing that a considerable proportion remains asymptomatic. These findings contribute to a broader understanding of congenital renal anomalies, their varied manifestations, and the importance of vigilant prenatal screening for early detection and management

Body Stalk Anomaly

Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases. The diagnosis of this anomaly was established during the first trimester of pregnancy. Subsequently, the patient opted for pregnancy termination and chose not to undergo genetic testing. The anatomo-pathological results confirmed the findings. Body stalk anomaly is not compatible with life; therefore, early identification and understanding the clinical implications of this rare anomaly for informed decision-making in prenatal care are very important

Severe Neonatal Anemia Due to Spontaneous Massive Fetomaternal Hemorrhage at Term: An Illustrative Case with Suspected Antenatal Diagnosis and Brief Review of Current Knowledge

Fetomaternal hemorrhage is defined as transfer of fetal blood into placental circulation and therefore into maternal circulation during pregnancy, and represents an important contributor to intrauterine fetal demise and neonatal death. The condition is rarely diagnosed prenatally because clinical findings are often nonspecific, and it is unpredictable. In this paper we present an illustrative case of massive spontaneous fetomaternal hemorrhage where the diagnosis was highly suspected antenatally based on maternal reported reduced fetal movements, abnormal suggestive cardiotocographic trace, and increased peak systolic velocity in the fetal middle cerebral artery. We discuss obstetrical and neonatal management and review the current knowledge in the literature. Maintaining a high index of suspicion for this condition allows the obstetrician to plan for adequate diagnostic tests, arrange intrauterine treatment or delivery, and prepare the neonatal team

Amnion Rupture Sequence

The amnion rupture sequence is a rare condition occurring early in pregnancy, resulting in complex fetal anomalies by disrupting normal embryonic development. The prevalence of amnion rupture sequence is reported to be 1.16 in 10,000 live births. This article explores the uncommon case of early amnion rupture leading to fetal encephalocele, suspected in the first trimester. Despite the variable and intricate nature of anomalies associated with this condition, cranio-facial and abdominal defects are frequently observed. Genetic testing was conducted, with normal results supporting our theory of amnion rupture. The patient decided to terminate the pregnancy, and the anatomopathological results confirmed the findings. This article discusses the diagnostic challenges, emphasizing the importance of timely identification through advanced imaging techniques