Objectives To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening... Show moreObjectives To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities. Methods This is a national study including 1901 pregnancies with NT >= 95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected. Results In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95(th) and 99(th) percentile and 62% for fetuses with NT >= 99(th) percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. Conclusion Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. Show less
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... Show moreObjective 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. Show less
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... Show moreObjective 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 fetalmegacystis. 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. (c) 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. Show less
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... Show moreObjective: 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 < 0.01). Cases with a high chance of spontaneous resolution were identified by using the cut-off of 12 mm, as demonstrated in a previous study, and the finding of an associated umbilical cord cyst carried a high-risk of urethral atresia (odds ratio: 15; p = 0.026), an unfavorable condition for antenatal treatment. An algorithm encompassing these three criteria demonstrated good accuracy in selecting fetuses theoretically eligible for fetal treatment (specificity 73%; sensitivity 92%). Conclusions: Cases theoretically eligible for early fetal therapy are those with normal nuchal translucency, a longitudinal bladder diameter >12 mm, and without ultrasound evidence of umbilical cord cysts. (C) 2018 The Author(s) Published by S. Karger AG, Basel Show less
Introduction. There is a strong association between urological complaints and a history of sexual abuse, especially in females. It is not known whether urologists integrate these facts in their... Show moreIntroduction. There is a strong association between urological complaints and a history of sexual abuse, especially in females. It is not known whether urologists integrate these facts in their daily practice. Aim. To evaluate whether Dutch urologists address the issues of sexual abuse in their female patients and to evaluate their perception of sexual abuse prevalences. Methods. A five-item anonymous questionnaire was mailed to all 405 registered members of the Dutch Urology Association (urologists and residents). Main Outcome Measures. The results of the survey. Results. One hundred eighty-six surveys of eligible respondents were returned (45.9% response rate). A total of 68.8% stated that they always ask their female patients about sexual abuse before doing the physical examination. Overall, 79.3% said to do so when a patient has certain urological complaints: 77.6% in case of lower abdominal pain, 62.1% in urgency or frequency, 41.4% in incontinence, 29.3% in urinary tract infections, and 3.4% in hematuria. The majority of the respondents (74.3%) estimated the frequency of sexual abuse in their urological clinic to be equal or less than 10%. Conclusion. Nearly 70% of the responding Dutch urologists and residents ask their female patients about possible sexual abuse. They estimate the frequency of sexual abuse in their female patients to be equal or less than 10%. Beck J, Bekker M, Van Driel M, Putter H, Pelger R, Lycklama a Nijeholt AAB, and Elzevier HW. Female sexual abuse evaluation in the urological practice: Results of a dutch survey. J Sex Med 2010;7:1464-1468. Show less
