Fetal megacystis: a lot more than LUTO.

OBJECTIVE: Fetal megacystis presents a challenge in terms of counseling and management because of its varied etiology and evolution. The aim of this study was to present a comprehensive overview of the underlying etiologies and structural anomalies associated with fetal megacystis. METHODS: This was a retrospective multicenter study of cases referred to the fetal medicine unit of one of the eight academic hospitals in The Netherlands with a diagnosis of fetal megacystis. For each case, data on and measurements of fetal urinary tract and associated structural anomalies were collected. All available postmortem examinations and postnatal investigations were reviewed in order to establish the final diagnosis. In the first trimester, fetal megacystis was defined as longitudinal bladder diameter (LBD) ≥ 7 mm, and in the second and third trimesters as an enlarged bladder failing to empty during an extended ultrasound examination lasting at least 40 min. RESULTS: Of the 541 pregnancies with fetal megacystis, it was isolated (or solely accompanied by other signs of lower urinary tract obstruction (LUTO)) in 360 (67%) cases and associated with other abnormal ultrasound findings in 181 (33%) cases. The most common associated ultrasound anomaly was an increased nuchal translucency thickness (22%), followed by single umbilical artery (10%) and cardiac defect (10%). A final diagnosis was established in 418 cases, including 222 (53%) cases with isolated LUTO and 60 (14%) infants with normal micturition or minor isolated urological anomalies. In the remaining 136 (33%) cases, concomitant developmental or chromosomal abnormality or genetic syndrome was diagnosed. Overall, 40 chromosomal abnormalities were diagnosed, including trisomy 18 (n = 24), trisomy 21 (n = 5), Turner syndrome (n = 5), trisomy 13 (n = 3) and 22q11 deletion (n = 3). Thirty-two cases presented with anorectal malformations involving the anus, rectum and urogenital tract. In cases with confirmed urethral and anal atresia, megacystis occurred early in pregnancy and the bladder appeared severely distended (the LBD (in mm) was equal to or greater than twice the gestational age (in weeks)). Fetal macrosomia was detected in six cases and an overgrowth syndrome was detected in four cases, comprising two infants with Beckwith-Wiedemann syndrome and two with Sotos syndrome. Megacystis-microcolon-intestinal hypoperistalsis syndrome was diagnosed in five (1%) cases and prenatally suspected only in one case. CONCLUSIONS: Although the main cause of fetal megacystis is LUTO, an enlarged fetal bladder can also be present as a concomitant finding of miscellaneous genetic syndromes, developmental disturbances and chromosomal abnormalities. We provide an overview of the structural anomalies and congenital disorders associated with fetal megacystis and propose a practical guide for the differential diagnosis of genetic syndromes and chromosomal and developmental abnormalities in pregnancies presenting with fetal megacystis, focusing on the morphological examination of the fetus. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal diagnosis of LUTO: improving diagnostic accuracy.

OBJECTIVE: To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third trimesters of pregnancy, as an alternative to the commonly used ultrasound triad of megacystis, keyhole sign and hydronephrosis. METHODS: This was a national retrospective study carried out at the eight tertiary fetal medicine units (FMUs) in The Netherlands. Only cases referred for megacystis from the second trimester onwards and with a clear postnatal diagnosis were included in the study. At referral, data were collected on amniotic fluid volume, renal cortical appearance, bladder volume, hydronephrosis, fetal ascites, ureteral size, keyhole sign, fetal sex and gestational age. Multivariate analysis was performed, starting by including all antenatal variables, and then excluding the weakest predictors using the backward stepwise strategy. RESULTS: Over a 7-year period, 312 fetuses with a diagnosis of megacystis were referred to the eight Dutch tertiary FMUs. A final diagnosis was achieved in 143 cases, including 124 of LUTO and 19 reclassified after birth as non-obstructive megacystis. The optimal bladder volume cut-off for prediction of LUTO was 35 cm3 (area under the curve (AUC) = 0.7, P = 0.03). The clinical score formulated on the basis of the multivariate analysis included fetal sex, degree of bladder distension, ureteral size, oligo- or anhydramnios and gestational age at referral. The combination of these five variables demonstrated good accuracy in discriminating LUTO from non-obstructive megacystis (AUC = 0.84, P < 0.001), compared with the poor performance of the ultrasound triad (AUC = 0.63, P = 0.07). CONCLUSIONS: We propose a clinical score that combines five antenatal variables for the prospective diagnosis of congenital LUTO. This score showed good discriminative capacity in predicting LUTO, and better diagnostic accuracy compared with that of the classic ultrasound triad. Future studies to validate these results should be carried out in order to refine antenatal management of LUTO and prevent inappropriate fetal interventions. © 2017 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Comparison of urine collection methods for albuminuria assessment in young children.

Cotton wool or pantyliners placed in a diaper can be used as urine collection devices for albuminuria measurements in young, not continent children. We tested a new collection method (PeeSpot(R)) for its analytical performance, and compared it with the pantyliner technique. Eighty-one urine samples with a wide range of albuminuria were pipetted on the pantyliner and PeeSpot in duplicate. These were incubated for 3h at 37°C (simulating the time a toddler wears a diaper), and subsequently 72h at room temperature (simulating transport to a central laboratory). Urine was extracted by centrifugation and albumin concentration (UAc) was measured. UAC measured by the two methods was compared with UAC in an unprocessed reference aliquot stored for 75h at 4°C. Bias (mean percentage UAC difference between test and reference), precision (interquartile range of the UAC difference) and accuracy (proportion of samples within 30% of reference UAC) were calculated. Median UAC in the reference aliquot was 66.0mg/L [IQR 25.0-211.0], pantyliner 32.0mg/L [4.7-165.0; P<0.001 vs reference], and PeeSpot 61.0mg/L [27.0-216.0; P=0.84 vs reference]. Bias, precision and accuracy in pantyliner were -34.2%, 31.3mg/L and 48.1%; in PeeSpot 3.3%, 5.0mg/L and 96.3%. Passing-Bablok regression and Bland-Altman plot showed an underestimation for the pantyliner but not for the PeeSpot. The PeeSpot is an accurate and precise tool for collecting urine for albumin measurement in young children and should be preferred over the alternative cotton wool collection technique.

Spirometry in young children: should computer-animation programs be used during testing?

Currently, computer-animation programs are frequently used to instruct and stimulate young children in performing maximal expiratory flow/volume (MEFV) curves. The reproducibility and maximal performance of MEFV manoeuvres with and without the use of two computer-animation programs (the "candles" and the "balloon" programs) were evaluated. Eighty-eight children, aged 4-8 yrs, were randomly assigned to one of the two animation programs. All children performed two series of at least three technically acceptable curves, one series with the incentive and one without, in random order. With the use of computer-animation programs, a lower proportion of children were able to fulfil international criteria for forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) reproducibility. The use of incentives improved reproducibility and performance of peak expiratory flow (PEF). Performance of FVC decreased significantly in 6-8-yr-old children using the animation programs. Training with a program for a short period of time before the formal lung-function test may be valuable. According to the results, however, the use of these programs during tests under the guidance of an experienced lung-function technician cannot be routinely recommended because of possible deteriorating effects on reproducibility and performance of forced expiratory manoeuvres.

[Nosocomial infections at a pediatric age]. / Infezioni nosocomiali in età pediatrica.

The overall incidence of nosocomial infections in children ranges from 2.3% to 12.6%. Even if there are great variations among data in literature, most authors agree that nosocomial infections are less frequent in children than in adults. Differences between these two populations concern anatomical sites of infection and microrganisms: in children, most frequent are gastrointestinal infections (10-35%), respiratory infections (5-30%) and bacteremia (10-23%); Gram positive bacteria account for 31-50% of infections, Gram negative for 23-35% and viruses for 22-27%. All these percentages change enormously depending on the type of department and child age. Because of increasing rates of resistance to antimicrobial agents, it is important to identify the main infectious agents and their sensibility, considering carefully when to give antibiotic therapy and what drug should be chosen.

A 1-year trial of lamivudine for chronic hepatitis B in children.

We carried out a 1-year trial to evaluate the efficacy and tolerability of lamivudine, an oral nucleoside analogue, in a small group of children with vertically acquired chronic hepatitis B. Patients were assessed for serum alanine aminotransferase (ALT) and serum hepatitis B virus (HBV) DNA at baseline and every 4 weeks thereafter, and for hepatitis B s antigen, hepatitis B e antigen and their antibodies every 12 weeks. Analysis of HBV mutation was undertaken at entry and on the occasion of the last positive control of HBV DNA. Lamivudine suppressed serum HBV DNA to undetectable levels in all treated patients within 24 weeks. Serum ALT levels returned to normal values within 36 weeks. Therapy was well tolerated, and although nausea and vomiting were reported in one child, it was not necessary to stop treatment. A new observation was that, contrary to previous data, seroconversion appeared to occur earlier in children with lower ALT levels at baseline.