Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia. Methods: A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks’ gestation (early megacystis). Results: In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis). Only a nuchal translucency > 95th centile, and not a longitudinal bladder diameter ≤15 mm (p = 0.24), significantly increased the risk of complex megacystis (p 12 mm, and without ultrasound evidence of umbilical cord cysts

Using three-dimensional ultrasound in predicting complex gastroschisis:A longitudinal, prospective, multicenter cohort study

Objective: To determine whether complex gastroschisis (ie, intestinal atresia, perforation, necrosis, or volvulus) can prenatally be distinguished from simple gastroschisis by fetal stomach volume and stomach-bladder distance, using three-dimensional (3D) ultrasound. Methods: This multicenter prospective cohort study was conducted in the Netherlands between 2010 and 2015. Of seven university medical centers, we included the four centers that performed longitudinal 3D ultrasound measurements at a regular basis. We calculated stomach volumes (n = 223) using Sonography-based Automated Volume Count. The shortest stomach-bladder distance (n = 241) was determined using multiplanar visualization of the volume datasets. We used linear mixed modelling to evaluate the effect of gestational age and type of gastroschisis (simple or complex) on fetal stomach volume and stomach-bladder distance. Results: We included 79 affected fetuses. Sixty-six (84%) had been assessed with 3D ultrasound at least once; 64 of these 66 were liveborn, nine (14%) had complex gastroschisis. With advancing gestational age, stomach volume significantly increased, and stomach-bladder distance decreased (both P <.001). The developmental changes did not differ significantly between fetuses with simple and complex gastroschisis, neither for fetal stomach volume (P =.85), nor for stomach bladder distance (P =.78). Conclusion: Fetal stomach volume and stomach-bladder distance, measured during pregnancy using 3D ultrasonography, do not predict complex gastroschisis

Perinatal complications in patients with unisutural craniosynostosis : An international multicentre retrospective cohort study

Purpose Craniosynostosis may lead to hampered fetal head molding and birth complications. To study the interaction between single suture craniosynostosis and delivery complications, an international, multicentre, retrospective cohort study was performed. Materials and methods All infants born between 2006 and 2012 in the Netherlands and Sweden with sagittal or metopic suture synostosis were included. All births were included as a reference population. The primary outcome measure was rate of medically assisted labor. The secondary outcomes included method of conception, term of birth and fetal position. Results We included 152 trigonocephaly patients, 272 scaphocephaly patients and 1.954.141 controls. A higher rate of assisted reproductive technology (ART) was found in patients with trigonocephaly (13%) and scaphocephaly (7%) compared to controls (3%, p < 0.001). Scaphocephaly resulted in more postterm births (8% vs 4%, p < 0.001). Trigonocephaly patients showed more preterm births (11% vs 6%, p < 0.001), breech position was more frequent (10% vs 4%, p = 0.003) and labor was more often induced. Rate of assisted delivery, including cesarean section, was significantly higher in both patient groups. Conclusions Scaphocephaly leads to more postterm births and an increased rate of cesarean sections. Trigonocephaly is related to ART, and in addition higher rates of breech position and cesarean section are found. Prenatal detection of single suture craniosynostosis could improve perinatal care

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia. Methods: A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks’ gestation (early megacystis). Results: In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis). Only a nuchal translucency > 95th centile, and not a longitudinal bladder diameter ≤15 mm (p = 0.24), significantly increased the risk of complex megacystis (p 12 mm, and without ultrasound evidence of umbilical cord cysts

Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation

Objective To develop a prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO) based on fetal ultrasound parameters and amniotic fluid volume. Methods Retrospective nationwide cohort study of fetuses with postnatally confirmed LUTO and known eGFR. Fetuses treated with fetal interventions such as vesico-amniotic shunting or cystoscopy were excluded. Logistic regression analysis was used to identify prognostic ultrasound variables with respect to renal outcome following multiple imputation of missing data. On the basis of these fetal renal parameters and amniotic fluid volume, a model was developed to predict postnatal renal function in fetuses with LUTO. The main study outcome was an eGFR less than 60 mL/min * 1.73 m(2) based on the creatinine nadir during the first year following diagnosis. Model performance was evaluated by receiver operator characteristic (ROC) curve analysis, calibration plots, and bootstrapping. Results Hundred one fetuses with a confirmed diagnosis of LUTO were included, eGFR less than 60 was observed in 40 (39.6%) of them. Variables predicting an eGFR less than 60 mL/min * 1.73m(2) included the following sonographic parameters: hyperechogenicity of the renal cortex and abnormal amniotic fluid volume. The model showed fair discrimination, with an area under the ROC curve of 0.70 (95% confidence interval, 0.59-0.81, 0.66 after bootstrapping) and was overall well-calibrated. Conclusion This study shows that a prediction model incorporating ultrasound parameters such as cortical appearance and abnormal amniotic fluid volume can fairly discriminate an eGFR above or below 60 mL/min * 1.73m(2). This clinical information can be used in identifying fetuses eligible for prenatal interventions and improve counseling of parents.Research into fetal development and medicin

Prenatal stomach position and volume in relation to postnatal outcomes in left-sided congenital diaphragmatic hernia

OBJECTIVE: To examine the association between prenatal stomach position (SP) grade and stomach volume (SV) and the need for pulmonary hypertension (PH) treatment after birth in prenatally diagnosed left-sided congenital diaphragmatic hernia (CDH), live born >34 weeks. METHODS: In retrospect, SP grade and SV were determined in fetuses with isolated left-sided CDH from 19 weeks gestational age (GA) onwards at three different time periods (≤24 weeks' GA: US1, 24-30 weeks' GA: US2; ≥30 weeks' GA: US3). Primary outcome was need for treatment of PH after birth. Secondary analyses included the predictive value of SP and SV for other respiratory outcomes and postnatal defect size. RESULTS: A total of 101 fetuses were included. SP grade was significantly associated with need for treatment of PH (US1, US2, and US3: p < 0.02). Also, prenatal SP grade was positively associated with defect size and development of chronic lung disease (CLD) in survivors. No association was found between SV and respiratory morbidities or postnatal defect size. CONCLUSION: SP grade in left-sided CDH fetuses is associated with an increased need for PH treatment, a larger postnatal defect size and CLD in survivors. We consider SP determination a valuable contribution to the prenatal assessment of left-sided CDH