PRENATAL DIAGNOSIS AND POSTNATAL MANAGEMENT OF THE COMPLETE MOLAR PREGNANCY WITH COEXISTING NORMAL FETUS

Hydatidiform mole with a coexisting fetus is an extremely rare phenomenon; the incidence of such an occurrence ranges from 1 in 10 000 to 1 in 100000 gestations(Cunningham et al., 1997).There were two possible conditions:a partial mole with an abnormaltriploid fetus, and a complete mole combined with a normal fetus and placenta. Most cases suffer severe complications, such as pre-eclampsia, abortion and preterm delivery,or termination immediately after the diagnosis.

Case Report: Prenatal and Postnatal Management for Fetal Bronchogenic Cysts During the COVID-19 Pandemic

Background: A fetal bronchogenic cyst (BC) is a rare congenital anomaly with an incidence of 0.147–0.238‰. The coronavirus disease 2019 (COVID-19) pandemic, as a particular situation, hindered pregnant women from receiving periodic prenatal checkups.Case Description: Until 34+6 weeks of gestation, a fetal case of the intrathoracic cyst was found by ultrasound examination. Further, MRI examination confirmed the diagnosis of the congenital mediastinal cystic lesion, probably a BC. Genetic testing was not conducted due to the COVID-19 pandemic. At 38+5 weeks of gestation with maternal COVID-19 testing negative, a live girl was delivered by cesarean section. Five months later, the child underwent bronchocystectomy, and the postoperative pathological lesions confirmed a (right upper mediastinum) BC.Conclusion: Herein, we reported the prenatal and postnatal management for a rare case of the congenital BC by multidisciplinary approaches during the COVID-19 pandemic. Fetal MRI and screening for fetal chromosomal abnormalities are especially recommended. This case contributes to the awareness that the COVID-19 pandemic interferes with regular follow-up schedules during pregnancy and may interfere with timely performed additional tests; which leads to more accurate genetic counseling. A combination of multidisciplinary approaches, including radiology, infection control, genetic counseling, obstetrics, and pediatric surgery, is pivotal for managing fetal BC during the COVID-19 pandemic.

Pitfalls of Prenatal Diagnosis guiding Postnatal Management in Congenital Adrenal Hyperplasia(CAH)

Background: 21-hydroxylase deficiency is the most common form of CAH and is associated with a variety of clinical phenotypes (salt wasting SW, simple virilizing SV and non-classic NCCAH). Commonly, there is a strong genotype-phenotype correlation for SW and NCCAH, but this is less predictable with the SV forms. We present a case with prenatal diagnosis of classic CAH which demonstrated genotype-phenotype discordance. Clinical Case: Ex 39 weeker female born to non-consanguineous parents was prenatally diagnosed with CAH based on routine genetic screen. Mother was noted to be a carrier for Intron 2G and father was a carrier of p.I172N both known to be pathogenic variants on CYP21A2. At 23 weeks gestational age, DNA analysis revealed fetus was compound heterozygous for both mutations which is most commonly associated with either SV or SW phenotype. At birth, infant had mild edema of the labia majora which resolved; the clitoris was not enlarged. There was no genital virilization or urogenital sinus. Newborn screen sent at 15 hours of life:17 OHP 132 ng/ml, repeat on DOL 3:77 ng/ml and DOL 13:59.9 ng/ml. High dose cosyntropin stim test on DOL 3 at 0 min: Cortisol not done, 17 OHP 1279 ng/dl; 60 min: Cortisol 12.3mcg/dl, 17OHP 3394 ng/dl. DOL 5 at 0 min: Cortisol 2.7 mcg/dl, ACTH 164.5 pg/ml, 17OHP 803.7 ng/dl; 60 minute: Cortisol 7.6mcg/dl, 17OHP 5920 ng/dl. Using available 17OHP normograms, the infant’s stimulated 17 OHP levels were not consistent with classic CAH. Unstimulated testosterone on DOL 3: 25ng/dl, DOL 5: 14 ng/dl. Ultrasound showed adrenal gland thickness 4mm bilaterally (upper limit of normal). Hydrocortisone (HC) was started on DOL 5 at 35 mg/m2/day after the stim test. On DOL 7, HC was increased to 100 mg/m2/day; fludrocortisone 0.1 mg twice daily and NaCl 0.5 g/day were started (Na 131, K 6.5, plasma renin activity 80.2). Upon discharge (DOL 13), infant was on HC 35 mg/m2/day, Fludrocortisone 0.1mg twice daily and NaCl 2g/day. Doses were adjusted accordingly during outpatient follow up. Currently infant is 4 months of age, thriving and remains on HC 11.3 mg /m2/day, Fludrocortisone 0.05 mg twice daily and NaCl 750 mg daily. Postnatal genetic analysis confirmed prenatal genotype. Conclusion: In general, genotype-phenotype correlation has 80–90% concordance. However clinicians should be aware of genotype/phenotype discrepancies that exist in order to carefully guide postnatal management based on prenatal genetic analysis. Our patient’s 17-ohp was done by LC/MS, which is standard now for most specialized endocrine laboratories. However, the 17-ohp nomograms for CAH, which are frequently used for subtype categorization, are based on RIA levels. Further studies would be helpful in creating an updated normogram using LCMS specifically for the neonatal period, as confirmatory screening of CAH will become more common with the rise in parental prenatal carrier screening.

Postnatal Management in Congenital Lower Urinary Tract Obstruction With and Without Prenatal Vesicoamniotic Shunt

Purpose: Congenital lower urinary tract obstruction (cLUTO) includes a heterogeneous group of conditions caused by a functional or mechanical outlet obstruction. Early vesicoamniotic shunting (VAS) possibly reduces the burden of renal impairment. Postpartum, pediatric urologists are confronted with neonates who have a shunt in place and a potentially impassable urethra with a narrow caliber. Early management of these patients can be challenging. Here, we would like to share the approach we have developed over time.Materials and Methods: We conducted a single-center retrospective analysis from 2016 to 2020 and included all patients diagnosed with cLUTO. Data focusing on time point and type of intervention was collected. Furthermore, patients with temporary diversion via a percutaneous VAS were selected for a more detailed review.Results: In total, 71 cases of cLUTO were identified during the study period. Within this group, 31 neonates received postnatal management and surgical intervention in our center. VAS was performed in 55% of these cases (N = 17). The postnatal treatment varied between transurethral or suprapubic catheterization and early Blocksom vesicostomy. In five infants with VAS, the urinary drainage was secured through the existing VAS by inserting a gastric tube (N = 1) or a 4.8 Fr JJ-stent (N = 4). To our knowledge, this is the first report of a stent-in-stent scheme, which can remain indwelling until the definite treatment.Conclusion: Having a secure urine drainage through a VAS allows the often premature infant to grow until definite surgery can be performed. This avoids placing a vesicostomy, which requires anesthesia.

Bilateral congenital pulmonary airway malformation in an extremely preterm infant

We present the case of a baby boy, with antenatal finding of bilateral enlarged echogenic lungs, who developed severe postnatal respiratory failure. Two important differential diagnoses, which have an impact on antenatal and postnatal management, are discussed. Fetal ultrasound, MRI and postmortem MRI images are presented and findings correlated with the autopsy findings.

Diagnosis and treatment of infants with severe hydronephrosis (literature review)

Introduction. An assessment of the effectiveness of antenatal diagnosis and postnatal management of infants and infants with grade IV hydronephrosis was performed based on the analysis of domestic and foreign literature. Literature review. In the literature analysis, we used the databases СlinicalKey, Web of Science, Cyberleninka, PubMed, and Medline. The search was not limited by the publication date; instead, the searchs emphasis was placed on publications of the last 10 years. Classification. Several classification systems have been developed to assess the severity of hydronephrosis in infants. However, none of them describes the degree of expansion of the PCS and the functional state of the renal parenchyma. This work shows the stages of embryogenesis of the obstruction of the pyelourethral segment. Diagnosis. The issues of antenatal diagnostics and prognostically significant outcome criteria for an intrauterine malformation of the fetal urinary system are considered. The main diagnostic methods in the postnatal period are described. Morphological changes. Variants of pathomorphological changes in the renal parenchyma, the pelvic wall, and ureter in prolonged obstruction conditions are described. The role and variability of the number of Cajal interstitial cells in the pelvic wall and ureter in hydronephrosis have been analyzed. Treatment. Particular attention is paid to nephroprotective therapy and surgical treatment tactics of the defect. Questions regarding the timing and choice of treatment methods, the need and duration of preliminary urine diversion in infants and children with grade IV hydronephrosis remain open. Conclusion. Analysis of the world literature shows that there is no single protocol for intrauterine diagnosis and postnatal management of children with grade IV hydronephrosis. The functional state of the parenchyma is possible only with a comprehensive examination to assess the degree of hydronephrosis. Improving antenatal and postnatal diagnostics, therapeutic and surgical treatment of children with severe hydronephrosis should be based on a doctors cooperation, a specialist in ultrasound diagnostics, a nephrologist, and a pediatric surgeon.

Prenatal and Postnatal Management of Intrauterine Pleural Effusions Associated with Nonimmune Hydrops Fetalis

Objective Nonimmune hydrops fetalis (NIHF) is defined as the accumulation of excess fluid in two or more body cavities in the fetus without blood incompatibility between mother and baby. We aimed to present our prenatal and postnatal management of intrauterine pleural effusions associated with NIHF. Study Design A total of 60 patients diagnosed with NIHF with intrauterine pleural effusion were analyzed retrospectively. Gestational age of delivery or fetal demise, the intrauterine treatment procedure including extrauterine intrapartum treatment (EXIT), chest tube, and medical treatment methods in fetuses with chylothorax analyzed. Results Thirty-nine patients (65%) were born alive between 26 and 38 weeks. A thoracoamniotic shunt was placed in one patient during the intrauterine period. Seven patients were placed bilaterally during the postnatal period, all without the umbilical cord being clamped during delivery. But 25 patients died within the first few days following birth. A total of four patients had chylothorax. Two patients who did not respond to medical treatment (somatostatin) were injected with thoracic local batticon and cured. A total of 14 patients were discharged with healing. Conclusion Cases of progressive prenatal pleural effusions associated with NIHF have a high risk for fetal and neonatal death. We think that extreme prematurity increases postnatal mortality because it negatively affects the development of the lung and heart. A close obstetric follow-up and a multidisciplinary approach are required for the management to be selected.