Volume 7, Issue 2

Background Fetal lateral neck cysts are transient fluid accumulations that result from abnormal lymphatic formations. In the first trimester, fetal lateral neck cysts accompanied by an increased nuchal translucency have been associated with aneuploidy, single-gene disorders and other malformations. Highlights We describe a case in which a lateral neck cyst, which measured 6.7 × 4 × 6.2 mm, was detected by ultrasonography in the first trimester with the additional finding of increased nuchal translucency (3.7 mm; >95 th percentile). No other abnormalities were detected at that time. Standard cell-free DNA screening resulted in no aneuploidy detected for chromosomes 21, 18, 13 and the sex chromosomes. The patient declined diagnostic testing with chorionic villus sampling. A repeat ultrasound at 16 weeks’ gestation demonstrated a normally grown fetus with persistence of the cyst, which measured 4.9 × 5 × 8.4 mm, as well as a pericardial effusion with a single outflow tract overriding the ventricular septum and vermian hypoplasia. The diagnosis of trisomy 9, 47,XX,+9, was made by amniocentesis and the patient opted for termination of the pregnancy. Conclusions This report illustrates the importance of identifying additional abnormalities in a fetus with lateral neck cysts, documenting the size of the cysts and obtaining diagnostic genetic testing.

Intrauterine closure of the ductus arteriosus is an abnormal occurrence with significant consequences for delivery and neonatal outcomes. We describe a case of intrauterine closure of the ductus arteriosus resulting in non-immune hydrops.

Pregnancy luteoma (PL) is a rare cause of non-neoplastic masses in pregnancy. PLs are usually asymptomatic. However, general symptoms like pelvic pain, lumbalgia, constipation or virilization due to active hormone secretion can be detected as the clinical findings of these benign cysts. The definitive diagnosis of PL is most commonly possible with a pathological evaluation after surgical intervention. Therefore, we present a successful management of PL with close follow-up until delivery. Beside the suspicion of malignancy by ultrasonography and magnetic resonance imaging (MRI), the cytological evaluation of ascites revealed benign cells which was helpful to decide expectant management.

Background Bladder exstrophy (BE) is a complex congenital anomaly that affects the urinary, reproductive, musculoskeletal and intestinal systems. Highlights This pregnancy case was complicated by BE, methylenetetrahydrofolate reductase (MTHFR) A1298C and plasminogen Activator inhibitör-1 (PAI) 4G/4G homozygous polymorphisms, placenta previa, preterm labor and preterm premature rupture of the membranes. The fetus was evaluated by ultrasonography daily and anhydramnios was detected on the 2 nd day of the patient’s hospitalization. A cesarean section (C/S) was performed at 27 weeks and 6 days of gestation and a 1330 g male infant was delivered. Conclusions Adult female patients with BE can have successful pregnancy outcomes if they receive appropriate antenatal care. However, the follow-up of these patients must be carried out at experienced tertiary reference centers with a multidisciplinary approach. This difficult process must be managed by obstetricians, neonatologists, urologists and pediatric surgeons working together.

Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. In this report, we have presented two consecutive successful pregnancies of a patient with nail-patella syndrome. The first pregnancy resulted with a newborn with nail-patella syndrome and the second pregnancy resulted in a healthy newborn without any obstetric complications. Renal functions were closely followed-up during both pregnancies, and basal renal functions were normal in the pregestational period, which seems to be the most important predictor of obstetric hypertensive complications. Prenatal diagnosis of nail-patella disease is also challenging due to several possible mutations and a wide range of phenotypes of the disease. Ultrasonographic examination findings may be suspicious for the disease in the fetus like patellar hypoplasia or joint contractures.

Background Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder characterized by the classic triad of capillary malformation, venous and lymphatic malformations and limb overgrowth. The incidence of pregnancies affected by KTS is unknown. There is a paucity of literature regarding management and outcomes of affected pregnancies, particularly in multifetal gestations. Case We present two cases of pregnancies affected by KTS and multiple gestations. A multidisciplinary approach with hematology, radiology and anesthesia resulted in two successful pregnancies with no adverse neonatal outcomes. Conclusion Management of pregnancies affected by KTS and multiple gestations should be personalized with a multi-disciplinary approach to avoid morbidity and improve maternal and neonatal outcomes.

Uterus didelphys accounts for 13% of uterine anomalies and has been correlated with preterm delivery and fetal malpresentation at delivery. A 37-year-old pregnant woman reported a spontaneous pregnancy in the right horn of a uterus didelphys. The course of the pregnancy was complicated by gestational diabetes, but no miscarriage threat or preterm delivery threat was reported during this pregnancy. She arrived at our division, in labor, at 39.2 gestational weeks’. She delivered by cesarean section due to failure to progress at 5 cm. Her post-operative course was uneventful. Vaginal delivery could be a safe option and the induction of labor or the use of oxytocin could be helpful in such cases, but recommended doses and labor time should be evaluated, so cesarean section is to date the most frequent delivery route in uterus didelphys at term.

We report the case of a 24-year-old Japanese woman, gravida 2, para 1, who became pregnant spontaneously. At 24 weeks of gestation, her fetus was found to have various abnormalities, including holoprosencephaly, congenital heart disease and severe fetal growth restriction, and she was referred to our hospital. From these findings, the fetus was suspected of having a chromosomal aberration, in particular, trisomy 13, and after genetic counseling, amniocentesis for chromosomal analysis was performed. Although the results of fluorescent in situ hybridization (FISH) analysis showed no numeric abnormalities, G-banding analysis revealed a ring chromosome 13; 46, XX, r (13) (p13q32). At 41 weeks of gestation, she delivered a female baby weighing 2240 g with good condition. The respiratory status of the neonate was stable, and she was discharged 30 days after birth. Ring chromosomes are rare chromosomal aberrations, and obstetricians should recognize that ring chromosomes cannot be detected solely by FISH analysis and require G-banding analysis and that information on the ring breakpoint is needed to counsel the parents regarding the fetal and neonatal prognosis.

Objective Several cases of isolated localized edema of the genital area in extremely low birth weight (ELBW) infants within the last 5 years prompted a search for possible explanations and a search of the literature. Study design A retrospective chart review of all cases of localized genital area edema in our 16-bed community level-3 neonatal intensive care unit (NICU) between January 2007 and December 2017. Results A total of six patients with localized edema of the genital area were found. Among the six cases, five provided descriptions of time of onset. Only one case had a plausible etiology [inguinal hernia (IH)]. Conclusions To our knowledge, this entity is not well described in the literature. Etiologies are speculative. Prolonged observation in the NICU by virtue of ELBW-status suggests that there are no detrimental effects, the condition does not appear to preclude discharge and cautious expectant management and reassurance are therefore in order.

The authors present a premature male neonate who developed subcapsular hematoma of the liver (SHL) secondary to birth trauma during the delivery process. During cesarean section, it was discovered that the infant had suffered birth trauma to the abdomen that caused intra-abdominal hemorrhage, resulting in hypovolemic shock. It was diagnosed as SHL upon abdominal ultrasound. This premature newborn infant presented with hypotension and metabolic acidosis secondary to internal hemorrhage. He was managed with volume replacement including packed red blood cells (pRBC), fresh frozen plasma and cryoprecipitate transfusions. The infant’s clinical condition improved gradually, and he went home without any problems at 36 weeks of corrected gestational age. On follow-up visits, he was found to be growing and developing appropriately. High index of suspicion, appropriate work-up and prompt treatment of shock were the key steps in the management of this infant.

Pulmonary pneumatocele is a thin-walled, air-filled cyst originating spontaneously within the lungs’ parenchyma, generally after infections or prolonged mechanical respiratory support. The diagnosis of pneumatocele is usually made using both chest X-ray (CXR) and computed tomography (CT) scan. Lung ultrasonography (LUS) is a promising technique used to investigate neonatal pulmonary diseases. We hereby present two cases of pneumatocele in newborns with respiratory distress syndrome (RDS) in which CXR and LUS were used to evaluate pulmonary parenchyma. LUS showed a multilobed cyst with a thin hyperechoic wall and a hypoechoic central area. Repeated LUS demonstrated a progressive reduction of the cyst’s size. After a few weeks, the small lesions were no longer detectable by ultrasound, therefore CXR was used, for follow-up, in the following months, until complete resolution. No data are available in the literature regarding ultrasonographic follow-up of neonatal pneumatocele. A larger number of patients are required to confirm our results and increase the use of LUS in the neonatal intensive care units (NICUs) to reduce neonatal radiations exposure.

Objective Preterm birth is connected to a delay in the development and eruption of primary teeth. The aim of the study is to present clinical findings, complications and management of prematurely erupted primary teeth. Subjects Three premature neonates with prematurely erupted teeth were examined during a 3-year period. The gender, gestational age, birthweight, mode of delivery and general health status were recorded. The literature search was conducted using several databases. Results The intraoral examination of three premature neonates revealed the presence of partially erupted lower central incisors. All teeth erupted between 4 and 6 weeks after preterm birth and were extracted due to their hypermobility. Two retrospective studies and 10 case reports concerning preterm infants with natal or neonatal teeth were found. Conclusion Careful examination of preterm infants with natal or neonatal teeth is very important not only for a treatment decision but also for the possible presence of syndromic conditions.

Premature rupture of membranes (PPROM) can occur in up to 3–4.5% of pregnancies and lead to complications in the mother and fetus. Maternal chorioamnionitis is the most common complication and may even lead to sepsis. In the fetus, depending upon the time of PPROM causing oligohydramnios, the effect on the lung growth is variable leading to varying degrees of pulmonary hypoplasia with its associated complications like persistent pulmonary hypertension of the newborn (PPHN), air leaks and respiratory failure. Here we present a successful outcome following PPROM at about 18 weeks of gestation, with severe oligohydramnios leading to preterm delivery with suspected pulmonary hypoplasia and pneumothorax in the baby.

Kawasaki disease (KD) is one of the most common causes of childhood systemic vasculitis, with the potential to cause significant cardiovascular complications, especially if undiagnosed. An investigation of coronary artery abnormalities with the application of appropriate therapeutic measures can improve the prognosis in these infants, decreasing the risk of coronary artery aneurysms. Neonatal KD is a rare event, often characterized only by few of the clinical features observed in older children. In this case report, we describe a newborn male who presented an incomplete clinical presentation of KD, where symptoms of the disease erupted immediately after birth. The objective of this report is to draw the attention of pediatricians and neonatologists to the possible presence of KD in an asymptomatic newborn during the immediate postnatal period, even in the absence of the classic features of KD, such as fever.

Short rib-polydactyly syndrome (SRPS) is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage [Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol. 1971;112:185–97]. In this case, we describe a neonate born with Type I SRPS (Saldino-Noonan type). Prenatal ultrasounds were suspicious for skeletal dysplasia, but prenatal genetic testing was negative. Postnatally, the infant was found to have severely hypoplastic lungs, a large patent ductus arteriosus, hydrops fetalis, polydactyly and a saddle nose. Postnatal DNA sequencing confirmed the diagnosis of SRPS and revealed a compound heterogeneous mutation in a gene involved in primary cilia synthesis. Ultimately, the infant was withdrawn from life support at 7 days due to severe respiratory decompensation from the lung hypoplasia.

The presence of high levels of neutrophil associated immunoglobulins (NAIG) in the serum of newborns with neutropenia and their mothers is usually associated with the diagnosis of allo-immune neonatal neutropenia (AINN). We describe a set of otherwise healthy late preterm monozygotic twins who presented with an isolated severe neonatal neutropenia on the first day of life. Flow cytometry for neutrophil antibody screen for both twins detected elevated levels of NAIG with normal serum levels of allo anti-neutrophil antibody (allo-NAB). Maternal serum did not contain either NAIG or allo-NAB. Also, the NAIG immunoglobulin M (IgM) levels were markedly increased in both twins if compared to the increase in the NAIG immunoglobulin G (IgG). Both twins showed very good response to a short course treatment with granulocyte colony stimulating factor (G-CSF), they remained clinically well until 12 months of age. We suggest that this case may be an early presentation of autoimmune neutropenia of infancy. This case study is the earliest report of autoimmune neutropenia of infancy in preterm monozygotic twins.

During the course of an outbreak due to Verona integron-encoded Metallo- β -lactamase (VIM)-producing Klebsiella pneumonia (KP) in the neonatal intensive care unit (NICU) of Maggiore Hospital in Bologna (Italy), an 8-day-old extremely low birth weight (ELBW) infant developed a severe ventilator-associated pneumonia (VAP) with concomitant bacteraemia. Although the microorganism was susceptible only to colistin and tigecycline, the patient was successfully treated with a combination of antibiotics including high-dosage, prolonged infusion of meropenem (MEM) and intravenous plus aerosolised gentamicin (GEN). This report highlights that, even when the microorganism is considered non-susceptible to MEM and GEN, the combination of these two agents could have a significant survival benefit.