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.

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.

BACKGROUND: Cervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co-occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role. METHODS: Radiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array. RESULTS: 274/374 patients (73.3%) had an abnormal vertebral pattern, which was associated with congenital abnormalities. Cervical ribs were present in 188/374 (50.3%) and were more common in stillbirths (69/128 [53.9%]) and terminations of pregnancies (101/188 [53.7%]), compared to live births (18/58, 31.0%). Large (likely) deleterious copy number variants and aneuploidies were prevalent in these patients. None of the rare copy number variants were recurrent or overlapped with candidate genes for vertebral patterning. CONCLUSIONS: The large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome.

Validation of a Prediction Rule for Mortality in Congenital Diaphragmatic Hernia.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly with a mortality of ∼27%. The Congenital Diaphragmatic Hernia Study Group (CDHSG) developed a simple postnatal clinical prediction rule to predict mortality in newborns with CDH. Our aim for this study is to externally validate the CDHSG rule in the European population and to improve its prediction of mortality by adding prenatal variables. METHODS: We performed a European multicenter retrospective cohort study and included all newborns diagnosed with unilateral CDH who were born between 2008 and 2015. Newborns born from November 2011 onward were included for the external validation of the rule (n = 343). To improve the prediction rule, we included all patients born between 2008 and 2015 (n = 620) with prenatally diagnosed CDH and collected pre- and postnatal variables. We build a logistic regression model and performed bootstrap resampling and computed calibration plots. RESULTS: With our validation data set, the CDHSG rule had an area under the curve of 79.0%, revealing a fair predictive performance. For the new prediction rule, prenatal herniation of the liver was added, and absent 5-minute Apgar score was taken out. The new prediction rule revealed good calibration, and with an area under the curve of 84.6%, it had good discriminative abilities. CONCLUSIONS: In this study, we externally validated the CDHSG rule for the European population, which revealed fair predictive performance. The modified rule, with prenatal liver herniation as an additional variable, appears to further improve the model's ability to predict mortality in a population of patients with prenatally diagnosed CDH.

Cervical ribs and other abnormalities of the vertebral pattern in children with esophageal atresia and anorectal malformations.

BACKGROUND: In mammals the vertebral column has a constant pattern, particularly in the cervical region, which is likely the result of stabilizing selection. The prevalence of cervical ribs and extended vertebral pattern abnormalities is increased in deceased fetuses and neonates and associated with structural and chromosomal anomalies. The hypothesized close interaction between vertebral patterning and organogenesis in early embryogenesis could be studied in children with esophageal atresia and anorectal malformations by evaluating the radiographs of the vertebral column and the type and number of associated anomalies METHODS: The vertebral pattern of 367 children diagnosed with an esophageal atresia (n = 135), anorectal malformation (n = 215), or both (n = 17) was assessed on radiographs. RESULTS: The vertebral pattern was abnormal in 170/202 (84.2%) children in whom this could be assessed, and cervical ribs were present in 147/335 (43.9%). Extended vertebral pattern abnormalities became more frequent with an increasing number of associated structural abnormalities. Cervical ribs were particularly common in children with chromosomal and genetic abnormalities (18/20, 90.0%). CONCLUSIONS: Cervical ribs are frequent and abnormal vertebral patterns are more extended in the presence of associated anomalies. These findings support the hypothesized selection against vertebral patterning variations and emphasize the relevance of assessment of the vertebral pattern.

International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) - the propagation of knowledge in ultrasound for the improvement of OB/GYN care worldwide: experience of basic ultrasound training in Oman.

BACKGROUND: The aim of this study is to evaluate effectiveness of a new ISUOG (International Society of Ultrasound in Obstetrics and Gynecology) Outreach Teaching and Training Program delivered in Muscat, Oman. METHODS: Quantitative assessments to evaluate knowledge and practical skills were administered before and after an ultrasound course for sonologists attending the ISUOG Outreach Course, which took place in November, 2017, in Oman. Trainees were selected from each region of the country following a national vetting process conducted by the Oman Ministry of Health. Twenty-eight of the participants were included in the analysis. Pre- and post-training practical and theoretical scores were evaluated and compared. RESULTS: Participants achieved statistically significant improvements, on average by 47% (p < 0.001), in both theoretical knowledge and practical skills. Specifically, the mean score in the theoretical knowledge test significantly increased from 55.6% (± 14.0%) to 81.6% (± 8.2%), while in the practical test, the mean score increased from 44.6% (± 19.5%) to 65.7% (± 23.0%) (p < 0.001). Performance was improved post-course among 27/28 participants (96.4%) in the theoretical test (range: 14 to 200%) and among 24/28 (85.7%) trainees in the practical skills test (range: 5 to 217%). CONCLUSION: Application of the ISUOG Basic Training Curriculum and Outreach Teaching and Training Course improved the theoretical knowledge and practical skills of local health personnel. Long-term re-evaluation is, however, considered imperative to ascertain and ensure knowledge retention.

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 m2 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 * 1.73m2 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 * 1.73m2 . This clinical information can be used in identifying fetuses eligible for prenatal interventions and improve counseling of parents.

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.

Omphalocele at school age: What do parents report? A call for long-term follow-up of complex omphalocele patients.

OBJECTIVE: Many children with omphalocele experience morbidity in early life, which could affect long-term outcomes. We determined parent-reported outcomes in school-aged children treated for minor or giant omphalocele. STUDY DESIGN: We sent paper questionnaires to the parents of all children treated for omphalocele in 2000-2012. Giant omphalocele was defined as defect diameter ≥ 5 cm with liver protruding. Motor function (MABC-2 Checklist) was compared with Dutch reference data; cognition (PedsPCF), health status (PedsQL), quality of life (DUX-25) and behavior (Strengths and Difficulties Questionnaire; SDQ) were compared with those of controls (two per child) matched for age, gender and maternal education level. Possible predictors of cognition and behavior were evaluated using linear regression analyses. RESULTS: Of 54 eligible participants, 31 (57%) returned the questionnaires. MABC-2 Checklist scores were normal for 21/26 (81%) children. Cognition, health status, quality of life and behavior were similar to scores of matched controls. One quarter (26%) of children with omphalocele scored ≤ - 1 standard deviation on the PedsPCF, compared with 9% of matched controls (p = 0.07). Giant omphalocele and presence of multiple congenital anomalies (MCA) were most prominently associated with lower PedsPCF scores (giant omphalocele: ß -22.11 (95% CI: -43.65 to -0.57); MCA -23.58 (-40.02 to -7.13)), although not significantly after correction for multiple testing. CONCLUSIONS: Parent-reported outcomes of children with omphalocele at school age are reassuring. Children with an isolated, minor omphalocele do not need extensive long-term follow-up of daily functioning. Those with a giant omphalocele or MCA might be at risk for delayed cognitive functioning at school age; we recommend long-term follow-up to offer timely intervention.

The validity of the viscero-abdominal disproportion ratio for type of surgical closure in all fetuses with an omphalocele.

OBJECTIVE: To determine the predictive value of the fetal omphalocele circumference/abdominal circumference (OC/AC) ratio for type of surgical closure and survival and to describe the trajectory of OC/AC ratio throughout gestation. METHODS: This cohort study included all live-born infants prenatally diagnosed with an omphalocele in our tertiary centre (2000-2017) with an intention to treat. The OC/AC ratio and liver position were determined using 2D ultrasound at three periods during gestation (11-16, 17-26, and/or 30-38 weeks). Primary outcome was type of closure; secondary outcome was survival. In the secondary analyses, the predictive value of the OC/AC-ratio trend for type of closure and survival was assessed. RESULTS: Primary closure was performed in 37/63 (59%) infants, and 54/63 (86%) survived. The OC/AC ratio was predictive for type of closure and survival in all periods. Optimal cut-off values for predicting closure decreased throughout gestation from 0.69 (11-16 weeks) to 0.63 (30-38 weeks). Repeated OC/AC-ratio measurements were available in 33 (73%) fetuses. The trend of the OC/AC ratio throughout gestation was not significantly associated with type of closure. All infants without liver herniation underwent primary closure. CONCLUSION: Type of omphalocele surgical closure and survival can be predicted prenatally on the basis of the OC/AC ratio and liver herniation independent of associated anomalies. LEARNING OBJECTIVE: The reader will be able to use the OC/AC ratio throughout gestation in all omphalocele cases for prediction of type of closure and survival and thus patient counselling.

Gastroschisis at school age: what do parents report?

Children with gastroschisis are at high risk of morbidity in early life, which could affect long-term outcomes. We determined parent-reported outcomes in school-aged children born in 2000-2012, using paper questionnaires. Parent-perceived child vulnerability and motor function were compared with the Dutch reference data; parent-rated data on cognition, health status, quality of life, and behavior were compared with those of controls matched for age, gender, and maternal education level. Of 77 eligible participants, 31 (40%) returned the questionnaires. Parent-reported motor function was normal in 23 (74%) children. Total scores on health status, quality of life, and behavior did not differ significantly from those of matched controls. Children with gastroschisis had lower scores on cognition (median (interquartile range); 109 (87-127)) than their matched controls (124 (113-140); p = 0.04). Neonatal intestinal failure and increased parent-perceived vulnerability were associated with lower scores on cognition (ß - 25.66 (95% confidence interval - 49.41, - 1.91); - 2.76 (- 5.27, - 0.25), respectively).Conclusion: Parent-reported outcomes of school-aged children with gastroschisis were mainly reassuring. Clinicians and parents should be aware of the higher risk of cognitive problems, especially in those with neonatal intestinal failure or increased parent-perceived vulnerability. We recommend multidisciplinary follow-up at school age of children with gastroschisis and neonatal intestinal failure. What is Known: • Many infants with gastroschisis experience morbidity in early life. • Data on developmental outcomes and daily functioning in children with gastroschisis beyond the age of 5 years are scarce and conflicting. What is New: • Parents of school-aged children treated for gastroschisis report normal motor function, health status, quality of life, and behavior. • Children with gastroschisis, especially those with intestinal failure, may be at risk for cognitive problems at school age. Parents who reported their child as being more vulnerable also reported more cognitive problems at school age.

Lung function, exercise tolerance, and physical growth of children with congenital lung malformations at 8 years of age.

OBJECTIVE: To improve counseling on congenital lung malformations (CLM) by describing long-term outcomes of children either operated on or managed by observation. STUDY DESIGN: We analyzed lung function (spirometry), exercise tolerance (Bruce treadmill), and physical growth of 8-year-old children with CLM who participated in our longitudinal prospective follow-up program. The data are shown as median standard deviation scores (SDS) with IQR, or estimated marginal means (95% CI) on the basis of general linear models. RESULTS: Twenty-nine (48%) of the 61 children had required surgery at a median age of 108 (IQR: 8-828) days, and 32 (52%) were managed by observation. In the surgery group, all lung function measurements (except for forced vital capacity [FVC]) were significantly below 0 SDS, with median FEV1 -1.07 (IQR: -1.70 to -0.56), FEV1 /FVC -1.49 (-2.62 to -0.33), and FEF25%-75% -1.95 (-2.57 to -0.63) (all P < 0.001). Children in the observation group had normal FEV1 and FVC, whereas FEV1 /FVC (-0.81 (-1.65 to -0.14)) and FEF25%-75% (-1.14 (-1.71 to -0.22)) were significantly below 0 SDS (both P < 0.001). Mean exercise tolerance was significantly below 0 SDS in both groups (observation: -0.85 (95% CI: -1.30 to -0.41); surgery: -1.25 (-1.69 to -0.80)); eight (28%) children in the observation group and ten (40%) in the surgery group scored <-1 SDS. Physical growth was normal in both groups. CONCLUSION: Children with CLM may be at risk for reduced lung function and exercise tolerance, especially those who required surgery. As little pulmonary morbidity was found in children with asymptomatic CLM, this study supports a watchful waiting approach in this group.

Differences in Origin and Outcome of Intra-Abdominal Cysts in Male and Female Fetuses.

OBJECTIVE: To investigate the origin and outcome in a cohort of male and female fetuses with intra-abdominal cysts, in order to provide recommendations on management and to improve prenatal counselling. METHODS: From 2002 to 2016, intra-abdominal cysts were detected by ultrasound in 158 fetuses. Cases with an umbilical vein varix were excluded. Fetal, neonatal, and maternal characteristics were retrieved from electronic patient files. RESULTS: In female fetuses (n = 114), intra-abdominal cysts were diagnosed at a later gestational age compared with male fetuses (n = 44) (median 32.0 vs. 21.5 weeks, p < 0.001). The maximum prenatal cyst diameter was larger in female fetuses (median 35 vs. 17 mm, p < 0.001). Associated anomalies were less frequent in females (n = 15, 13.2%) compared with males (n = 15, 34.1%). In females (n = 114), most cysts were of ovarian origin (n = 81, 71.1%). Surgery was performed in 30 (26.3%) female and 15 (34.1%) male neonates (p = 0.33). Anorectal malformations were present in 6 cases and often not recognized prenatally. CONCLUSIONS: The differences in the origin of intra-abdominal cysts between male and female fetuses, resulting in differences in prenatal presentation and postnatal outcome should be taken into account in prenatal counseling within a multidisciplinary team. Evaluation of the fetal perianal muscular complex is indicated.

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. RESULTS: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ2(1) = 6.252, p = .012 and 28/97, 28.9%, Χ2(1) = 10.955, p < .001, respectively). CONCLUSIONS: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.

Omphalocele: from diagnosis to growth and development at 2 years of age.

OBJECTIVES: To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age. DESIGN: We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding. RESULTS: We included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: -0.57 (-1.05 to -0.09); weight: -0.86 (-1.35 to -0.37)) and giant omphalocele (height: -1.32 (-2.10 to -0.54); weight: -1.58 (-2.37 to -0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002). CONCLUSIONS: The prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy.

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 < 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.

Evaluation of First-Trimester Physiological Midgut Herniation Using Three-Dimensional Ultrasound.

INTRODUCTION: The aim of this study was to investigate the development of midgut herniation in vivo using three-dimensional (3D) ultrasonographic volume and distance measurements and to create reference data for physiological midgut herniation in ongoing pregnancies in a tertiary hospital population. MATERIALS AND METHODS: The transvaginal 3D ultrasound volumes of 112 women, seen weekly during the first trimester of pregnancy, were obtained and subsequently analysed in a virtual reality environment. The width of the umbilical cord insertion, the maximum diameter of the umbilical cord, and the volume of midgut herniation were measured from 6 until 13 weeks gestational age (GA). RESULTS: All parameters had a positive relation with GA, crown-rump length, and abdominal circumference. In approximately 1 of 10 volumes no midgut herniation could be observed at 9 and 10 weeks GA. In 5.0% of the fetuses the presence of midgut herniation could still be visualised at 12 weeks GA. CONCLUSION: Reference charts for several dimensions of physiological midgut herniation were created. In the future, our data might be used as a reference in the first trimester for comparison in case of a suspected pathological omphalocele.

First trimester physiological development of the fetal foot position using three-dimensional ultrasound in virtual reality.

AIM: In anatomic studies of the embryo, it has been established that during the development of the lower limb, several changes in foot position can be observed defined as a temporary 'physiological clubfoot'. The aim of this study was to develop and test a measurement tool for objective documentation of the first trimester foot position in vivo and made an attempt to create a chart for first trimester foot position. METHODS: We developed a virtual orthopedic protractor for measuring foot positioning using three-dimensional virtual reality visualization. Three-dimensional ultrasound volumes of 112 pregnancies of women examined during the first trimester were studied in a BARCO I-Space. The frontal angle (plantar flexion) and the lateral angle (adduction) between the leg and foot were measured from 8 until 13 weeks gestational age. RESULTS: We observed that the frontal angle steadily decreases, whereas the lateral angle first increases, resulting in transient physiological clubfeet position at 10- to 11-week gestation, followed by a decrease to a normal foot position. CONCLUSION: A transient clubfoot position is present during the normal development of the lower limbs, and it has been measured in vivo for the first time. This study emphasizes that a diagnosis of congenital clubfoot should not be made in the first trimester of pregnancy.

Prenatal markers and longitudinal follow-up in simple and complex gastroschisis.

OBJECTIVE: We aimed to identify gestational-age corrected prenatal ultrasound markers of complex gastroschisis, and to compare physical growth and neurodevelopment between children with simple and complex gastroschisis. DESIGN: We included prenatally diagnosed gastroschisis patients from 2000 to 2012 who joined our longitudinal follow-up programme. Associations between complex gastroschisis and prenatal ultrasound markers collected at 30 weeks' gestation and prior to delivery were tested using logistic regression. Physical growth (SD scores (SDS)), mental and psychomotor developmental index (MDI, PDI; Bayley Scales of Infant Development) were recorded at 12 and 24 months. Data were analysed using general linear models and compared with population norms. RESULTS: Data of 61 children were analysed (82% of eligible cases). Extra-abdominal bowel dilatation at 30 weeks' gestation was significantly associated with complex gastroschisis (OR (95% CI): 5.00 (1.09 to 22.98)), with a high negative (88%) but low positive (40%) predictive value. The mean (95% CI) height SDS at 12 months (-0.46 (-0.82 to -0.11)), and weight SDS at 12 and 24 months (-0.45 (-0.85 to -0.05), and -0.44 (-0.87 to -0.01), respectively) fell significantly below 0 SDS. MDI and PDI were significantly below 100 at 24 months; 93 (88 to 99) and 83 (78 to 87), respectively). Children with complex gastroschisis had a significantly lower PDI (76 (68 to 84)) than those with simple gastroschisis (94 (90 to 97), p<0.001). CONCLUSIONS: Prenatal ultrasound markers could not reliably distinguish between simple and complex gastroschisis. Children with complex gastroschisis may be at increased risk for delayed psychomotor development; they should be monitored more closely, and offered timely intervention.

Prenatal ultrasound parameters in single-suture craniosynostosis.

INTRODUCTION: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters. MATERIALS AND METHODS: We retrospectively analyzed data of the 20-week anomaly scan in trigonocephaly patients (n = 41), scaphocephaly patients (n = 41), and matched controls (n = 82). We measured six different cranial dimensions, including head circumference, biparietal diameter, and occipito-frontal diameter, defining the cephalic index as the ratio between biparietal and occipito-frontal diameter. RESULTS: Prenatal biometric measurements did not differ significantly between trigonocephaly patients and controls. Although significantly lower in scaphocephaly patients (0.76 versus 0.79; p = .000), the cephalic index by itself is not appropriate for screening at 20 weeks of gestation. Longitudinal analysis suggests that a deflection in BPD curve is found in scaphocephaly patients, starting at 20 weeks of gestation. CONCLUSIONS: Prenatal biometric measurements do not differ significantly between trigonocephaly patients and controls. The CI is lower in scaphocephaly patients. A deflection in BPD curve should be followed by 3 D imaging of the cranial sutures.