Background-Posterior urethral valves (PUV) accounts for 17% of pediatric renal failure. The management of pregnancies involving fetuses with PUV is hampered by the fact that current clinical parameters obtained from fetal ultrasound and/or fetal urine biochemistry are insufficient to predict postnatal renal function. We previously have developed a fetal urine peptide signature (12PUV) that predicted with high precision postnatal renal failure at 2 years of age in fetuses with PUV. Here we evaluated the accuracy of this signature to predict postnatal renal outcome in fetuses with PUV in an independent single center study. Methods-Thirty three woman carrying fetuses with suspected PUV were included. Twenty five fetuses received vesicoamniotic shunts (VAS) during pregnancy. PUV was confirmed postnatally in 23 patients. Of those 23 fetuses, 2 were lost in follow-up. Four and 3 patients died in the pre-and perinatal-period, respectively. Follow-up renal function at 6 month of age was obtained for the remaining 14 patients. The primary outcome was early renal failure, defined by an eGFR<60 mL/min/1.73 before 6 months of age or pre-or perinatal death. Results-The peptide signature predicted postnatal renal outcome in postnatally confirmed PUV fetuses with an AUC of 0.94 (95%CI: 0.74-1.0) and an accuracy of 90% (95%CI: 78-100). The signature predicted postnatal renal outcome for the suspected PUV cases with an AUC of 0.89 (95%CI: 0.72-0.97) and an accuracy of 84% (95%CI: 71-97). Conclusion-This single center study confirms the predictive power of the previously identified 12PUV fetal urinary peptide signature.

What are the novel findings of this work?This study provides tools for the prenatal diagnosis of different types of rhombencephalosynapsis (RES) and the identification of central-nervous-system-associated findings. Partial RES often presents with near-normal cerebellar morphology in axial views and poses a considerable diagnostic challenge. Brainstem anomalies are commonly present, possibly being an inherent part of the midbrain-hindbrain malformative process leading to RES. What are the clinical implications of this work?RES should be considered in every fetus with transverse cerebellar diameter < 3 rd centile, flattening or absence of the valleculla (round-shaped cerebellum) and early

We report 3 cases of prenatal diagnosis of premature constriction of the ductus arteriosus after maternal benzydamine hydrochloride therapy (3-mg lozenges) in third-trimester pregnancies. In each case, fetal echocardiography revealed a dilated, hypocontractile right ventricle with severe tricuspid regurgitation and constriction of the ductus arteriosus. Although the effect of indomethacin and other nonsteroidal anti-inflammatory drugs on prenatal ductal constriction is well known, readily available over-the-counter nonsteroidal anti-inflammatory drugs such as benzydamine can have an equally deleterious effect and are best avoided in the third trimester of pregnancy.

Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.

Intrauterine growth restriction (IUGR) is one of the most important problems in current perinatology. The number of complications such as intrauterine fetal hypoxia, preterm and operative labours, intrauterine demises and neonatal deaths are signifcantly higher among pregnant women with IUGR. The proper monitoring and assesement of the fetal well-being are crucial to make the right decision about optimal time and mode of delivery.