Normal Ultrasound Scan Research Articles

Serum Neuron-Specific Enolase as a Biomarker of Neonatal Brain Injury-New Perspectives for the Identification of Preterm Neonates at High Risk for Severe Intraventricular Hemorrhage.

Neonatal brain injury (NBI) is a critical condition for preterm neonates with potential long-term adverse neurodevelopmental outcomes. This prospective longitudinal case-control study aimed at investigating the levels and prognostic value of serum neuron-specific enolase (NSE) during the first 3 days of life in preterm neonates (<34 weeks) that later developed brain injury in the form of either periventricular leukomalacia (PVL) or intraventricular hemorrhage (IVH) during their hospitalization. Participants were recruited from one neonatal intensive care unit, and on the basis of birth weight and gestational age, we matched each case (n = 29) with a neonate who had a normal head ultrasound scan (n = 29). We report that serum NSE levels during the first three days of life do not differ significantly between control and preterm neonates with NBI. Nevertheless, subgroup analysis revealed that neonates with IVH had significantly higher concentrations of serum NSE in comparison to controls and neonates with PVL on the third day of life (p = 0.014 and p = 0.033, respectively). The same pattern on the levels of NSE on the third day of life was also observed between (a) neonates with IVH and all other neonates (PVL and control; p = 0.003), (b) neonates with II-IV degree IVH and all other neonates (p = 0.003), and (c) between control and the five (n = 5) neonates that died from the case group (p = 0.023). We conclude that NSE could be an effective and useful biomarker on the third day of life for the identification of preterm neonates at high risk of developing severe forms of IVH.

Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy

ObjectiveTo present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). Study designThis was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, exome sequencing (ES) results, and pregnancy outcomes. ResultsAll of the nine cases were detected to have NM-causing variants, involving NEB gene in 2 cases, ACTA1 in 3 cases, KLHL40 in 3 cases, and TPM2 in 1 case. Almost all (8/9) had normal first-trimester ultrasound scans except one who had an increased nuchal translucency. Seven (7/9) cases had second-trimester abnormal ultrasounds with fetal akinesia and/or extremity anomalies. Two (2/9) had only third-trimester abnormal ultrasounds with fetal akinesia and polyhydramnios, with one combined with fetal growth restriction. Four pregnancies with a positive prenatal ES were terminated, while five having not receiving prenatal ES continued to term. Only one infant survived 1 year old, and four passed away within 12 months. ConclusionPrenatal ultrasound can detect clues that lead to the diagnosis of NM, such as reduced or absent fetal movements, polyhydramnios and extremity anomalies.

Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans

BackgroundStandard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities.MethodsA prospective study was conducted, involving pregnant women without fetal sonographic structural abnormalities who underwent amniocentesis. Prenatal samples were analyzed using copy number variation sequencing(CNV-seq) to identify fetal chromosomal abnormalities.ResultsOf 28,469 pregnancies included 1,022 (3.59%) were identified with clinically significant fetal chromosome abnormalities, including 587 aneuploidies (2.06%) and 435 (1.53%) pathogenic (P) / likely pathogenic (LP) CNVs. P/LP CNVs were found in all chromosomes, but the distribution was not uniform. Among them, P/LP CNVs in chromosomes 16, 22, and X exhibited the highest frequencies. In addition, P/LP CNVs were most common on distal ends of the chromosomes and in low copy repeat regions. Recurrent microdeletion/microduplication syndromes (MMS) accounted for 40.69% of total P/LP CNVs. The size of most P/LP CNVs (77.47%) was < 3 Mb.ConclusionsIn addition to aneuploidies, the scope of extended NIPS should include the currently known P/LP CNVs, especially the regions with recurrent MMS loci, distal ends of the chromosomes, and low copy repeat regions. To be effective detection should include CNVs of < 3 Mb. Meanwhile, sufficient preclinical validation is still needed to ensure the clinical effect of extended NIPS.

Ultrasound for suspected Baker's cyst: A test of limited clinical value?

Patients with posterior knee swellings are commonly encountered in clinical practice with the vast majority referred for an ultrasound scan to assess for a clinically suspected Baker's cyst. Our aim was to determine the incidence of different pathologies in patients investigated for a posterior knee swelling of a clinically suspected Baker's cyst using ultrasound. We also wanted to investigate the incidence of significant pathologies in the popliteal fossa to assess whether the ultrasound scan findings influenced patient management. Retrospective analysis was performed on all patients who underwent an ultrasound scan for a suspected Baker's cyst or posterior knee swelling at our institution, between January 2017 and December 2018. Patient demographics, ultrasound findings, further imaging investigations and histopathology were recorded. Patient records were followed up for a minimum period of 3 years after ultrasound. A total of 680 patients had a posterior knee ultrasound scan. Of that, 51% (347/680) had a Baker's cyst and 40% (273/680) had a normal ultrasound scan. Sixty (9%) patients had other abnormalities identified within the popliteal fossa. Four patients had significant findings on ultrasound that required a change of management. No malignancies identified. This study confirms the high incidence of Baker's cysts in patients presenting with a posterior knee swelling. In the absence of red flag symptoms, ultrasound of the posterior knee for a clinically suspected Baker's cyst is of limited clinical value.

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation

ObjectiveTo present the fetal features of Cornelia de Lange Syndrome (CdLS) with a molecular confirmation. Study designThis was a retrospective study of 13 cases with CdLS diagnosed by prenatal and postnatal genetic testing and physical examination. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes. ResultsAll of the 13 cases were detected to have a CdLS-causing variant, with 8 variants identified in the NIPBL gene, 3 in SMC1A, and 2 in HDAC8. Five had normal ultrasound scans during pregnancy; all were caused by variants of SMC1A or HDAC8. For the eight cases with NIPBL variants, all had prenatal ultrasound markers. Three had first trimester ultrasound markers including increased nuchal translucency in one and limb defects in three. Four presented with normal ultrasound in the first trimester, but abnormal ultrasound in the second trimester, including micrognathia in two, hypospadias in one and intrauterine growth retardation (IUGR) in one. IUGR as the isolated feature was identified in one case in the third trimester. ConclusionThe prenatal diagnosis of CdLS caused by NIPBLvariants is possible. It seems to remain challenging to detect non-classic CdLS only relying on ultrasound examination.

Early Cranial Ultrasound Changes as Predictors of Outcome during First Year of Life in Infants with Perinatal Asphyxia- A Prospective Cohort Study

Introduction: Perinatal Asphyxia (PA) causes impaired exchange of ventilatory gases, or ischemia that leads to persistent decrease in oxygen levels (hypoxemia) and increase in carbon dioxide levels (hypercarbia). It occurs during the peripartum period can contribute to early neonatal mortality and morbidity. Aim: To assess the role of early changes in cranial ultrasound a predictor of outcome in babes with PA. Materials and Methods: This prospective cohort study was conducted in a tertiary care neonatal unit in Maharani Laxmi Bai Medical College, Jhansi, Uttar Pradesh, India, from July 2018 to October 2019. A total of 50 neonates with PA were studied. Cranial ultrasound was performed at or after seven days of life. Neurodevelopment assessment of the subjects were done at 3, 6, 9 and 12 months of life using Development Quotient (DQ). Variables were analysed by student’s t-test and categorical variables were analysed by Fisher’s-exact probability test using graph pad software. Results: Out of 50 infants of PA, 29 had an abnormal ultrasound scan and 21 had normal ultrasound scan. A 16/29 patients had abnormal outcome along with abnormal ultrasound scan while rest of the 13 had normal outcome. The mean DQ of the neonates having abnormal ultra sonographic examination was significantly lower as compared to those with normal examination. A 6 out of 21 neonates had abnormal outcome inspite of having normal ultrasound scan. Cranial ultrasound has a specificity=55%, sensitivity=73%, Positive Predictive Value (PPV)=58% and Negative Predictive Value (NPV)=71% in predicting neurodevelopment outcome of patients with birth asphyxia. Conclusion: Cranial Utrasonography (USG) findings in PA babies reveal a strong association with the development severity.

Second-trimester miscarriage: a review of postnatal investigations and subsequent pregnancy outcomes.

Second-trimester loss is pregnancy loss after the 12th and before the 24th completed weeks of pregnancy. This study aims to review cases of second-trimester miscarriage who attended a large maternity hospital and to examine pregnancy outcomes in this group of women. This study is a review of cases of second-trimester miscarriage using descriptive, exploratory design, involving a retrospective chart review. In this study, 106 cases of second-trimester miscarriage were reviewed. The cause of the miscarriage was found in 42.5% (n = 45) of cases. The majority of women, 84.5% (n = 82) had a normal pelvic ultrasound scan and 18.3% (n = 17) of cases were diagnosed with antiphospholipid syndrome. In women who became pregnant again, 60.9% (n = 39) had a live birth. Establishing the cause of second-trimester miscarriage can be challenging, despite completing all recommended investigations. Outcomes in subsequent pregnancies are reassuring. This review highlights the need to undertake all recommended investigations to elicit the cause of second-trimester miscarriage and underpins the need for further research in this area.

Robotic-Assisted Resection of Pelvic Arteriovenous Malformation Utilising Intraoperative Video Angiography with Indocyanine Green

<h3>Study Objective</h3> Surgical resection of pelvic arteriovenous malformations (AVM) can be challenging, and pre-operative imaging may not clearly identify feeding vessels. We describe a case of pelvic AVM in a young woman and demonstrate the robotic surgical resection utilising video angiography with indocyanine green (ICG). <h3>Design</h3> Case report and surgical video. <h3>Setting</h3> Four-arm robotic assisted laparoscopy. <h3>Patients or Participants</h3> A nullipara with pelvic AVM. <h3>Interventions</h3> Robotic-assisted resection of pelvic AVM guided by intraoperative ICG angiography. <h3>Measurements and Main Results</h3> A 22-year-old woman presented with progressively worsening left pelvic pain. Pelvic ultrasound demonstrated a 7cm left adnexal vascular mass and magnetic resonance angiogram confirmed a left pelvic AVM. The patient was counselled regarding the risks of embolization versus surgery and decided on the latter. Using a robotic surgical system, the left pelvic side wall was opened at the pelvic brim and careful dissection of the retroperitoneal alveolar tissue was performed. 3mL of a 2.5mg/mL solution of ICG was injected peripherally, followed by 10mL bolus of normal saline. Using the near infra-red imaging of the robotic system, the ICG demonstrates small efferent vessels arising from the left ovarian vessels and a large vein communicating with the left external iliac vein. Vascular clips were applied to the aberrant vein prior to ligation. The AVM was carefully dissected away from the surrounding tissues, with use of bipolar diathermy for coagulation of smaller vessels. A further dose of ICG was injected after resection to ensure haemostasis and to confirm the perfusion of remaining organs. Mesosalpinx and pelvic side wall peritoneum were closed with 2-0 barbed suture. The patient was discharged the following day with complete resolution of left pelvic pain and normal pelvic ultrasound scan 6 weeks later. <h3>Conclusion</h3> Robotic surgical resection of pelvic AVM is enhanced with guidance from intraoperative ICG video angiography to ensure haemostasis and complete excision.

858 Parathyroid Adenoma Manifesting as Acute Pancreatitis: A Case Report and Literature Review

Abstract Introduction Pancreatitis is commonplace on the acute surgical take. It is usually caused by gallstones or alcohol excess. Parathyroid adenoma causing hypercalcaemia is a rare cause of pancreatitis. Case report Here we describe a case of a 45-year-old gentleman with no past medical history who presented with epigastric pain and vomiting. A CT scan revealed acute pancreatitis. After a normal biliary tree ultrasound scan, the cause was initially proposed to be alcohol although he reported an average intake of only 4–6 units/day. However, on closer inspection of blood tests, it was apparent that he had a severe hypercalcaemia at 3.45mmol/L and a hypophosphataemia. This raised the suspicion of a primary hyperparathyroidism. Accordingly, a parathyroid hormone level was measured and shown to be 90pmol/L! An ultrasound scan of the neck confirmed the underlying cause to be a parathyroid adenoma. Due to the severity of electrolyte imbalances, this adenoma was excised during the same admission. The patient's symptoms resolved, and he was discharged with planned follow up after genetic testing for multiple endocrine neoplasia syndromes. Literature review There have been many similar cases reported in the last 10 years but primary hyperparathyroidism causing pancreatitis remains rare. Multiple cases involved recurrent acute pancreatitis before parathyroid lesions were diagnosed. Conclusion This case highlights the importance of investigating other causes of pancreatitis where gallstones and alcohol excess have been ruled out. Furthermore, it is pertinent for surgical trainees, who usually check blood tests initially, to be able to interpret electrolyte imbalances in the context of surgical disease.

Intrahepatic cholestasis of pregnancy: Green-top Guideline No. 43 June 2022.

Intrahepatic cholestasis of pregnancy: Green-top Guideline No. 43 June 2022.

LINC-06. Prevalence and outcomes of Autoimmune encephalitis in a tertiary hospital in Baguio City, Philippines

INTRODUCTION: Autoimmune Encephalitis is a debilitating neurological disorder that develops as a rapidly progressive encephalopathy, occurring usually less than 6 weeks, caused by brain inflammation. There are limited data on the autoimmune cases in the locality. This study aims to determine the prevalence and outcomes of patients with Autoimmune encephalitis cases admitted in a tertiary hospital in Baguio City, Philippines. METHODOLOGY: This is a descriptive retrospective cross-sectional study that reviewed health records of patients managed as autoimmune encephalitis in a tertiary hospital from January 2015 to December 2020. Descriptive Statistics using frequencies and percentages were employed in the study. RESULTS: A total of 21 patients were included in the study, majority of which were adolescent patients, with male predominance and are residing in rural areas. The most common clinical manifestation presented were fever, behavioral changes, generalized motor seizures, orofacial and limb dyskinesias. EEG revealed abnormal results in 14 patients (66.67%). Majority of patients had normal CSF analysis, while 2 (38.1%) revealed elevated CSF protein levels. Eight patients (38.1%) tested positive for anti-NMDAR titers. Most patients had normal ultrasound and cranial CT Scan (47.62%). The length of stay was more than 2 weeks and majority (80.95%) of patients were discharged improved. CONCLUSION: The prevalence of autoimmune encephalitis is 5/10,000 pediatric population in a span of 6 years which was noted to be increasing over time. The demographic and clinical profile maybe used as predictors of outcome of autoimmune encephalitis, hence, it can help in the management of the said disease.

Incremental Detection of Severe Congenital Heart Disease by Fetal Echocardiography Following a Normal Second Trimester Ultrasound Scan in Québec, Canada.

Background:The benefit of fetal echocardiograms (FE) to detect severe congenital heart diseases (SCHD) in the setting of a normal second-trimester ultrasound is unclear. We aimed to assess whether the increase in SCHD detection rates when FE are performed for risk factors in the setting of a normal ultrasound was clinically significant to justify the resources needed.Methods:This is a multicenter, population-based, retrospective cohort study, including all singleton pregnancies and offspring in Quebec (Canada) between 2007 and 2015. Administrative health care data were linked with FE clinical data to gather information on prenatal diagnosis of CHD, indications for FE, outcomes of pregnancy and offspring, postnatal diagnosis of CHD, cardiac interventions, and causes of death. The difference between the sensitivity to detect SCHD with and without FE for risk factors was calculated using generalized estimating equations with a noninferiority margin of 5 percentage points.Results:A total of 688 247 singleton pregnancies were included, of which 30 263 had at least one FE. There were 1564 SCHD, including 1071 that were detected prenatally (68.5%). There were 12 210 FE performed for risk factors in the setting of a normal second-trimester ultrasound, which led to the detection of 49 additional cases of SCHD over 8 years. FE referrals for risk factors increased sensitivity by 3.1 percentage points (95% CI, 2.3–4.0; P<0.0001 for noninferiority).Conclusions:In the setting of a normal second-trimester ultrasound, adding a FE for risk factors offered low incremental value to the detection rate of SCHD in singleton pregnancies. The current ratio of clinical gains versus the FE resources needed to screen for SCHD in singleton pregnancies with isolated risk factors does not seem favorable. Further studies should evaluate whether these resources could be better allocated to increase SCHD sensitivity at the ultrasound level, and to help decrease heterogeneity between regions, institutions and operators.

Serum Activin A as Brain Injury Biomarker in the First Three Days of Life. A Prospective Case-Control Longitudinal Study in Human Premature Neonates.

Disruption of normal intrauterine brain development is a significant consequence of premature birth and may lead to serious complications, such as neonatal brain injury (NBI). This prospective case-control longitudinal study aimed at determining the levels and prognostic value of serum activin A during the first three days of life in human premature neonates which later developed NBI. It was conducted in a single tertiary hospital and eligible participants were live-born premature (<34 weeks) neonates. Each case (n = 29) developed NBI in the form of an intraventricular haemorrhage, or periventricular leukomalacia, and was matched according to birth weight and gestational age to one neonate with normal head ultrasound scans. Serum activin A levels in both groups showed a stable concentration during the first three days of life as no difference was observed within the two groups from the first to the third day. Neonates diagnosed with NBI had significantly higher activin A levels during the first two days of life compared to control neonates and its levels correlated to the severity of NBI during the second and third day of life. Although serum activin A on the second day was the best predictor for neonates at risk to develop NBI, the overall predictive value was marginally fair (area under the ROC-curve 69.2%). Activin A, in combination with other biomarkers, may provide the first clinically useful panel for the early detection of premature neonates at high risk of NBI.

Isolated Fallopian Tube Torsion: An Underdiagnosed Entity with Debatable Management

To study features of isolated fallopian tube torsion (IFTT) to promote early diagnosis of this entity and describe options for management. Retrospective cohort study from October 2017 through October 2020. Tertiary care hospital. All patients with surgically confirmed adnexal torsion or IFTT during the study period. All of the patients underwent gynecological examination, imaging, and laparoscopy. During this 3-year period, 64 patients underwent laparoscopy owing to confirmed torsion, of which 55 had adnexal torsion, and 9 had IFTT. Patients with IFTT tended to be younger (21.2 years ± 8.2 vs 29.1 years ± 11.9, p = .06) and had more fever on admission (p = .007). On ultrasound examination, isolated hydrosalpinx was demonstrated only in patients with IFTT (p <.001). During surgery, more para-ovarian cysts were observed in patients with IFTT (44.4% vs 10.9%, p = .01), whereas patients with adnexal torsion had more ovarian cysts (52.7% vs 0%, p = .003). The most common procedure was detorsion in both groups. Most patients that underwent detorsion of the tube had a normal ultrasound scan on follow-up examination. IFTT is probably underdiagnosed. Its clinical presentation is more equivocal than adnexal torsion, and ovaries are usually of normal size on ultrasonography. Hydrosalpinx or para-ovarian cysts should raise suspicion toward IFTT. Detorsion of the tube is probably a valid management option, although further research with long-term follow-up analyzing tubal patency is necessary to define the optimal management for this condition.

Serum glial fibrillary acidic protein as a biomarker of brain injury in premature neonates.

Neonatal brain injury (NBI) is a serious adverse outcome of prematurity. Early detection of high risk premature neonates to develop NBI is not currently feasible. The predictive value of many biomarkers has been tested, but none is used in clinical practice. The purpose of this study was to determine the levels and predictive value of serum glial fibrillary acidic protein (GFAP) in a prospective longitudinal case–control study during the first 3 days of life in premature neonates (<34 weeks of gestation) that later developed either intraventricular hemorrhage or periventricular leukomalacia. Each case (n=29) was matched according to birth weight and gestational age to one neonate with normal head ultrasound scans. No significant differences in GFAP levels were observed between the groups. Nevertheless, neonates with brain injury presented more frequently with GFAP levels above the lowest detection limit (0.056 ng/ml) and this trend was significantly different during all 3 days. Thus, the effectiveness of GFAP as an early biomarker of NBI in premature neonates seems to be limited.

Abstract 64: The Prevalence of Hepatocellular Carcinoma in HIV-Infection: Results of Large-Scale Liver Ultrasound Screening Program in HIV-Infected Nigerians

Abstract Purpose: In Nigeria, over 3 million people are infected with HIV (prevalence rates 6.1-8.0%). Rates of co-infection with HBV and HCV among HIV-infected are common ranging from 9-12.3% (HBV) and 6-20% (HCV). Given the high burden of HIV/HBV co-infection, it is hypothesized that there are high rates of HCC among HIV-infected individuals in Nigeria. This abstract describes the pattern of liver diseases detected by abdominal ultrasound, including abnormalities suggestive of HCC, from a screening program. Methods: In this cross-sectional study, all consenting adults (&amp;gt;18) HIV-infected subjects underwent an abdominal ultrasound using the N2 full Digital Ultrasound and completed a structured questionnaire. Ultrasonography findings were recorded. Basic descriptive statistics was performed. Results: Two thousand seven hundred and twenty-seven subjects were enrolled into the program [1950 (71.5%) females; mean age 46.40±10.15 years]. All subjects were receiving antiretroviral therapy (ART). The majority of study subjects (2149, 78.8%) had a normal liver ultrasound scan. The most common liver abnormality was hepatomegaly, seen in 298 (10.9%) of the study subjects. One hundred and nine (4.0%) had a diffusely hyper-echogenic liver, suggestive of fatty liver. Seventy-two (2.6%) had a hypo-echogenic liver with starry sky appearance, suggestive of active inflammation. Thirty-eight (1.4%) of the study subjects had features consistent with liver cirrhosis. Liver nodules or solid masses were seen in 4 (0.01%) of the study subjects. Mean HIV viral load was significantly higher among those with hepatomegaly compared to those with a normal scan (log103.74 vs.log105.21 p=0.015). Conclusion: The prevalence of HCC among HIV-infected was extremely low 4(0.01%). This is reassuring given the relatively large number of subjects screened and high prevalence of other risk factors for HCC in this population. An effect of ART on reducing incidence of HCC in this population is surmised, however, requires further exploration in long-term follow up studies. Citation Format: Pantong Davwar, Nyam David, Emuobor Odeghe, Duguru Mary, Claudia Hawkins, Ganiyat Oyeleke, Edith Okeke, Lesi Olufunmilayo, Lewis Roberts, Atiene Sagay, Lifang Hou, Robert Murphy, Godwin Imade. The Prevalence of Hepatocellular Carcinoma in HIV-Infection: Results of Large-Scale Liver Ultrasound Screening Program in HIV-Infected Nigerians [abstract]. In: Proceedings of the 9th Annual Symposium on Global Cancer Research; Global Cancer Research and Control: Looking Back and Charting a Path Forward; 2021 Mar 10-11. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2021;30(7 Suppl):Abstract nr 64.

S100B as a biomarker of brain injury in premature neonates. A prospective case – control longitudinal study

BackgroundNeonatal brain injury (NBI) is a serious adverse outcome in premature neonates. We sought to determine the levels and prognostic value of serum S100B during the first three days of life in premature neonates (<34 weeks) that later developed NBI in the form of either intraventricular hemorrhage (IVH) or periventricular leukomalacia (PVL). MethodsThis is a prospective case – control longitudinal study. Each case (n = 29) was matched according to birthweight and gestational age to one neonate with normal head ultrasound scans. ResultsNeonates with NBI, had significantly higher S100B concentration during the first three days of life. In both groups S100B was significantly higher on the first day when compared to the next two days of life showing a downwards trend. Serum S100B on the first day was the best predictor for adverse neonatal outcome such as death or II–IV IVH grade. A cut-off value of 10.51 ng/ml serum S100B performed a sensitivity of 100% and a specificity of 93.9% to predict adverse neonatal outcome. ConclusionFurther research on the predictive value of serum S100B regarding NBI in premature neonates is of great interest and may provide the first clinically useful biomarker for early detection of neonates at high risk.

Evaluation of renal injury in children with uncorrected CHDs with significant shunt using urinary neutrophil gelatinase-associated lipocalin.

CHDs can be complicated by renal injury which worsens morbidity and mortality. Urinary neutrophil gelatinase-associated lipocalin, a sensitive and specific biomarker of renal tubular injury, has not been studied in children with uncorrected CHDs. This study evaluated renal injury in children with uncorrected CHDs using this biomarker. The patients were children with uncorrected CHDs with significant shunt confirmed on echocardiogram with normal renal ultrasound scan, in the paediatric cardiology clinic of a tertiary hospital. The controls were age-matched healthy children recruited from general practice clinics. Information on bio-data and socio-demographics were collected and urine was obtained for measurement of urinary neutrophil gelatinase-associated lipocalin levels. A total of 65 children with uncorrected CHDs aged 2 to 204 months were recruited. Thirty-one (47.7%) were males while 36 (55.4%) had acyanotic CHDs. The median urinary neutrophil gelatinase-associated lipocalin level of patients of 26.10 ng/ml was significantly higher than controls of 16.90 ng/ml (U = 1624.50, p = 0.023). The median urinary neutrophil gelatinase-associated lipocalin level of patients with cyanotic and acyanotic CHDs were 30.2 ng/ml and 22.60 ng/ml respectively; (Mann-Whitney U = 368.50, p = 0.116). The prevalence of renal injury using 95th percentile cut-off value of urinary neutrophil gelatinase-associated lipocalin was 16.9%. Median age of patients with renalinjury was 16 (4-44) months. Children with uncorrected CHDs have renal injury detected as early as infancy. The use of urinary neutrophil gelatinase-associated lipocalin in early detection of renal injury in these children may enhance early intervention and resultant prevention of morbidity and reduction in mortality.

Outcomes Following Post-Hemorrhagic Ventricular Dilatation among Infants of Extremely Low Gestational Age

To assess outcomes following post-hemorrhagic ventricular dilatation (PHVD) among infants born at ≤26weeks of gestation. Observational study of infants born April 1, 2011, to December 31, 2015, in the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network and categorized into 3 groups: PHVD, intracranial hemorrhage without ventricular dilatation, or normal head ultrasound. PHVD was treated per center practice. Neurodevelopmental impairment at 18-26months was defined by cerebral palsy, Bayley Scales of Infant and Toddler Development, 3rd edition, cognitive or motor score <70, blindness, or deafness. Multivariable logistic regression examined the association of death or impairment, adjusting for neonatal course, center, maternal education, and parenchymal hemorrhage. Of 4216 infants, 815 had PHVD, 769 had hemorrhage without ventricular dilatation, and 2632 had normal head ultrasounds. Progressive dilatation occurred among 119 of 815 infants; the initial intervention in 66 infants was reservoir placement and 53 had ventriculoperitoneal shunt placement. Death or impairment occurred among 68%, 39%, and 28% of infants with PHVD, hemorrhage without dilatation, and normal head ultrasound, respectively; aOR (95% CI) were 4.6 (3.8-5.7) PHVD vs normal head ultrasound scan and 2.98 (2.3-3.8) for PHVD vs hemorrhage without dilatation. Death or impairment was more frequent with intervention for progressive dilatation vs no intervention (80% vs 65%; aOR 2.2 [1.38-3.8]). Death or impairment increased with parenchymal hemorrhage, intervention for PHVD, male sex, and surgery for retinopathy; odds decreased with each additional gestational week. PHVD was associated with high rates of death or impairment among infants with gestational ages ≤26weeks; risk was further increased among those with progressive ventricular dilation requiring intervention.

Detection of copy number variants with chromosomal microarray in 10377 pregnancies at a single laboratory.

IntroductionInvasive prenatal testing with chromosomal microarray analysis may be a relevant option for all pregnant women, but there is only moderate‐quality evidence for such an offer. We intended to study the prevalence of copy number variants (CNVs) in prenatal samples using a single SNP‐array platform stratified by indication.Material and methodsA cross‐sectional study was performed based on a cohort. From January 2015 to December 2017, a total of 10 377 prenatal samples were received for prenatal single nucleotide polymorphism (SNP)‐array in the laboratory of the Genetics Generation Advancement Corporation. Indications for chromosomal microarray analysis studies included the confirmation of an abnormal karyotype, ultrasound abnormalities, advanced maternal age and parental anxiety. CNVs and region of homozygosity identified by the SNP‐array were analyzed.ResultsOf 10 377 cases, 689 had ultrasound abnormalities and 9688 were ascertained to have other indications. The overall prevalence of CNVs was 2.1% (n = 223/10 377, 95% confidence interval [CI] 1.9‐2.4), but the prevalence was 4.4% (95% CI 3.0‐6.1) for cases referred with abnormal ultrasound findings and 2.0% (95% CI 1.7‐2.3) for other indications. Of the 223 CNVs detected, 42/10 377 were pathogenic (0.4%, 95% CI 0.3‐0.6), 84 were susceptibility CNV (0.8%, 95% CI 0.6‐1.0) and 97 were variants of uncertain significance (0.9%, 95% CI 0.8‐1.1). Using an SNP‐based platform allowed for the detection of paternal uniparental disomy of chromosome 14 in a fetus with ultrasound abnormality.ConclusionsWith an indication of advanced maternal age but normal ultrasound scans, the prevalence of pathogenic CNVs was 0.4% and that of susceptibility CNV 0.7%. As CNVs are independent of maternal age, the prevalence is likely the same for younger women. Thus, this study provides further evidence that chromosomal microarray analysis should be available for all women who wish to receive diagnostic testing, as this risk is above the cut‐off of 1:300 for Down syndrome, leading to the suggestion of invasive testing. A chromosomal microarray analysis based on SNP‐array platform is preferable, as it can also detect uniparental disomy in addition to copy number variants.