Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center.

Objective: The aim of this study is to compare the prenatal ultrasonography (US) and the autopsy findings of the fetuses of 12-24th gestational weeks. Methods: This retrospective study comprises 84 fetuses autopsied. The correlation between US and autopsy findings was classified into four categories: (A) Compatible, (B) Minor findings added, (C) Major findings added, and (D) Incompatible. Results: Malformations were the most common medical termination indication. The most frequent findings at autopsy were multiple system findings followed by central nervous system. Prenatal US and autopsy findings were completely compatible in 48 fetuses (57.1%), while additional minor and major autopsy findings were found in 26 (31.0%) and 4 (4.8%), respectively. Autopsy and US findings were incompatible in 6 fetuses (7.1%). Conclusion: Prenatal ultrasound and fetal autopsy are complementary tools to obtain detailed and complete diagnosis of fetal anomalies and fetal autopsy is still a valuable tool to obtain further diagnostic information.

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.

Glycine encephalopathy with normal serum glycine (MIM #617301), also known as GLYT1 encephalopathy, is an extremely rare disorder caused by biallelic variants in SLC6A9 and characterised by facial dysmorphic features, skeletal findings including contractures, knee hyperextension, and joint dislocations and seizures. To date, only ten patients from five families have been reported and only two of them could survive until childhood. In this study, we report on a consanguineous Turkish couple with a history of six pregnancies with three habitual abortions and three postpartum exitus. While in three pregnancies the babies were born prematurely at 32nd gestational week by emergency ceserean section due to hydrops and fetal distress, the other pregnancy was medically terminated at 16th gestational week due to absent fetal heart activity. The product of all these three pregnancies exhibited similar phenotype including short neck, thoracic kyphosis, hypertrichosis, joint contractures and dislocations, hypertonia, knee hyperextension and facial dysmorphic features. Trio exome sequencing was performed prenatally during the last pregnancy and a novel VUS variant in SLC6A9 and a likely pathogenic variant in MTOR gene were detected. DNA isolation was performed from frozen muscle and adrenal tissue of previously autopsied fetuses with similar clinical features, and the same variants were confirmed in both of them. Our data suggest that SLC6A9 and MTOR variants may be responsible for this extremely lethal phenotype in this family.

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report.

BACKGROUND: Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF). It is a severe congenital defect with a very high mortality rate. The recommended surgical approach is esophageal ligation and gastrostomy. Despite the progress in reconstructive surgical techniques, the outcome of the anomaly is still very poor. We described a case of TA with a TEF in a female newborn with a hemivertebra, single ventricle, single atrioventricular valve, single atrium, and cardiac left isomerization. CASE: The patient, who was born at 37 weeks of age, was diagnosed with imaging methods, as the cyanosis did not improve despite being intubated many times in the delivery room; the cyanosis improved after esophageal intubation. Despite all life support treatment, the patient died on the fourth day of life. At autopsy, tracheal agenesis was diagnosed. CONCLUSIONS: In newborns who cannot be intubated in the delivery room or whose lungs cannot be ventilated despite being intubated and whose cyanosis cannot be corrected, tracheal agenesis should be considered and ventilation with esophageal intubation should also be tried.

Endothelial dysfunction and increased responses to renal nerve stimulation in rat kidneys during rhabdomyolysis-induced acute renal failure: role of hydroxyl radical.

Rhabdomyolysis is an important cause of acute renal failure (ARF) and renal vasoconstriction is the main mechanism in the pathogenesis of ARF. Lipid peroxidation due to hydroxyl radical (.OH) formation and redox cycling of myoglobin also have a role. We investigated the disturbance in renal vascular reactivity to reveal the mechanisms leading to ARF. Female Wistar rats (n = 7) were injected with glycerol (10 mL/kg, 50% in saline) intramuscularly to induce rhabdomyolysis, and then the kidneys were isolated and perfused. We investigated acetylcholine (ACh)-induced endothelium-dependent and papaverine (PAP)-induced endothelium-independent vasodilation responses and renal nerve stimulation (RNS)-induced vasoconstrictions. These were also investigated both in rats which received either .OH scavenger, dimethylthiourea (DMTU: 500 mg/kg before glycerol injection and 125 mg/kg 8 h after glycerol injection, n = 7), or myoglobin redox cycling inhibitor, acetaminophen (ApAP: 100 mg/kg 2 h before glycerol injection and 100 mg/kg each 4 h, and 22 h after glycerol injection, n = 7). ACh-induced responses in glycerol group were decreased (p < 0.001), but PAP-induced vasodilation did not change. RNS-induced vasoconstriction in all kidneys was greater (p < 0.001) in glycerol group. DMTU restored both endothelium-dependent vasodilation and RNS-induced vasoconstriction. ApAP had no effect on vascular responses. Both DMTU and ApAP exerted a partial protective effect in renal histology without restoring serum creatinine and blood urea nitrogen (BUN) levels or creatinine clearance. This study showed that endothelial dysfunction and increased vasoconstriction developed during rhabdomyolysis. .OH plays an important role in the development of these vascular responses. These findings suggest that decreased endothelium-dependent vasodilation and augmented renal sympathetic tonus contribute to the development of renal vasoconstriction during rhabdomyolysis-induced ARF.