Search

Background: Deep learning (DL) is a new technology that can assist prenatal ultrasound (US) in the detection of congenital heart disease (CHD) at the prenatal stage. Hence, an economic-epidemiologic evaluation (aka Cost-Utility Analysis) is required to assist policymakers in deciding whether to adopt the new technology. Methods: The incremental cost-utility ratios (CUR), of adding DL assisted ultrasound (DL-US) to the current provision of US plus pulse oximetry (POX), was calculated by building a spreadsheet model that integrated demographic, economic epidemiological, health service utilization, screening performance, survival and lifetime quality of life data based on the standard formula: CUR = Increase in Intervention Costs - Decrease in Treatment costs Averted QALY losses of adding DL to US & POX US screening data were based on real-world operational routine reports (as opposed to research studies). The DL screening cost of 145 USD was based on Israeli US costs plus 20.54 USD for reading and recording screens. Results: The addition of DL assisted US, which is associated with increased sensitivity (95% vs 58.1%), resulted in far fewer undiagnosed infants (16 vs 102 [or 2.9% vs 15.4%] of the 560 and 659 births, respectively). Adoption of DL-US will add 1,204 QALYs. with increased screening costs 22.5 million USD largely offset by decreased treatment costs (20.4 million USD). Therefore, the new DL-US technology is considered "very cost-effective", costing only 1,720 USD per QALY. For most performance combinations (sensitivity > 80%, specificity > 90%), the adoption of DL-US is either cost effective or very cost effective. For specificities greater than 98% (with sensitivities above 94%), DL-US (& POX) is said to "dominate" US (& POX) by providing more QALYs at a lower cost. Conclusion: Our exploratory CUA calculations indicate the feasibility of DL-US as being at least cost-effective. [ABSTRACT FROM AUTHOR]

Objective: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy number variants associated with risks for adult-onset conditions. We assessed whether women's choices were associated with indications for testing or with one-on-one pretest genetic counseling.Methods: In this cross-sectional study, medical records of women who underwent invasive prenatal chromosomal microarray analysis testing (N=1,070) at Hadassah Medical Center between June 2017 and February 2018 were examined for testing indications, choices regarding chromosomal microarray analysis findings, and type of pretest genetic counseling. Multivariable analyses to assess associations with testing indication and prior genetic counseling were carried out using logistic regression models.Results: In total, 56% of women (n=593) chose to be informed of all three types of findings and 20% (n=218) chose not to be informed of any of the findings beyond high-penetrance childhood-onset pathogenic findings. Variants of uncertain clinical significance as a single choice was the least-selected finding (2.5%, n=27). Low-risk pregnancies (ie, those with normal biochemical screening and fetal ultrasound examinations) were associated with increased interest in receiving genetic information about adult-onset conditions (adjusted odds ratio [aOR] 1.7; 95% CI 1.18-2.33) and susceptibility loci (aOR 1.5; 95% CI 1.08-2.10).Conclusion: Women with both high-risk and low-risk pregnancies were generally more likely to choose to receive additional genetic information, albeit differences in preferences depend on testing indication and type of pretest counseling. [ABSTRACT FROM AUTHOR]

Objective: To examine the risk for clinically significant chromosomal microarray analysis (CMA) among fetuses with apparently isolated horseshoe kidney.Methods: Data from all CMA analyses performed due to isolated horseshoe kidney reported to the Israeli Ministry of Health between January 2013 and September 2016 were retrospectively obtained from a computerized database. Risk estimation was performed comparing the rate of abnormal CMA findings to the general population, based on a systematic review encompassing 9272 pregnancies with normal ultrasound, and local data cohort of 5541 pregnancies undergoing CMA due to maternal request.Results: Of 82 pregnancies with isolated horseshoe kidney, one loss-of-copy-number variant compatible with 16p13.11 microdeletion syndrome was demonstrated (1.2%). In addition, two variants of unknown significance (VOUS) were detected (2.4%). The relative risk for pathogenic CMA findings among pregnancies with isolated single horseshoe kidney was not significantly different from the control population (1.03-1.39%).Discussion: To our best knowledge, our study is the first report describing the rate of clinically significant CMA findings in fetuses with isolated horseshoe kidney. The detection of one pathogenic CMA findings in our cohort implies that the value of CMA analysis in such pregnancies is similar to the general population. [ABSTRACT FROM AUTHOR]

Objectives: An association between isolated, increased nuchal translucency thickness (NT) and pathogenic findings on chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies use a NT cut-off value of 3.5 mm. However, considering NT distribution and the commonly accepted 5% false-positive rate in maternal serum screening, NT cut-off levels should be reconsidered. The aim of this study was to assess different NT cut-off levels as indication for CMA and to determine whether CMA should be recommended for mildly increased NT of 3.0-3.4 mm.Methods: This was a retrospective, multicenter study of singleton pregnancies with CMA results and either normal NT and no other finding or with increased NT as the only medical indication for CMA at the time of an invasive procedure (increased NT was considered an isolated finding in cases of advanced maternal age). Women with normal fetal NT who underwent CMA did so at their own request. A single laboratory performed all genetic analyses. Comparative genomic hybridization microarray analysis or single nucleotide polymorphism array technology was used for CMA. If combined first-trimester screening (NT and biochemistry) indicated increased risk for common aneuploidies, the case was excluded. NT was used to divide cases into three groups (≤ 2.9 mm, 3.0-3.4 mm and ≥ 3.5 mm) and their CMA results were compared.Results: CMA results were recorded in 1588 pregnancies, among which 770 fetuses had either normal NT with no other finding or isolated increased NT. Of these, 462 had NT ≤ 2.9 mm, 170 had NT of 3.0-3.4 mm and 138 had NT ≥ 3.5 mm. Pathogenic copy number variants were found in 1.7%, 6.5% and 13.8% of cases, respectively.Conclusion: Our results suggest that CMA should be recommended when fetuses have isolated, mildly increased NT (3.0-3.4 mm). Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation.Methods: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members. At presentation at 14-17 weeks of gestation, color and pulsed Doppler imaging were performed across the four cardiac valves. We identified cases in which abnormal flow was detected, leading to suspicion of PS; in these cases, a follow-up examination was carried out at 17-19 weeks and then monthly until delivery or resolution of the finding, and postnatal echocardiography was performed at birth, 4-6 weeks thereafter, and yearly afterwards. Outcome data for suspicious cases, including postnatal diagnosis and general or specific symptoms, were collected by contacting the parents via email or telephone.Results: Among 24 185 early prenatal transvaginal ultrasound screening examinations, 23 cases of suspected PS were identified. They were classified into three groups, according to their ultrasound findings. In Group A (n = 8), the ultrasound screen was normal except for high flow velocity across the pulmonary valve. In six cases, this finding had resolved by 20-21 weeks of gestation and all were found to be normal at postnatal follow-up, one case underwent termination of pregnancy at 19 weeks and PS was confirmed at autopsy and one case was lost to follow-up. In Group B (n = 12), there was aliasing across the pulmonary valve. Two of these cases were normal postnatally and eight had mild-to-moderate PS; the remaining two cases developed hypoplastic right ventricle and pulmonary atresia at 19-20 weeks and the pregnancies were terminated. In Group C (n = 3) PS was associated with other anomalies; all three pregnancies were terminated. There were an additional six cases (Group D) not identified in early gestation, in which PS was late-onset. One had tricuspid regurgitation at the early screen, but was subsequently diagnosed with Ebstein's anomaly and pulmonary atresia, at 22 weeks, and was terminated. The other cases had completely normal early ultrasound screening examinations: one case had Ebstein's anomaly and PS was diagnosed at birth; four had isolated mild PS, of which one was diagnosed at 22 weeks' gestation and the other three were diagnosed postnatally, before 3 months of age. The sensitivity for detection of the ascertained cases of PS was 64% (11/17) and the specificity was > 99%.Conclusion: There is a diverse spectrum of presentation of fetal PS in the early mid-trimester. A possible explanation for this could be different pathophysiological pathways. Further study is needed to explain the different prenatal sonographic presentations in an unselected population. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Background: Scarce data exist about screening, diagnosis and prognosis of non-primary Cytomegalovirus (CMV) during pregnancy. We aimed to examine antenatal diagnosis of maternal non-primary CMV infection and to identify risk factors for congenial CMV disease.Methods: Retrospective cohort of 107 neonates with congenital symptomatic CMV infection, following either primary (n = 95) or non-primary (n = 12) maternal CMV infection. We compared the groups for the manifestations and severity of congenial CMV disease, as well as for possible factors associated with the risk of developing CMV related infant morbidity.Results: Disease severity is not similar in affected newborns, with a higher incidence of abnormal brain sonographic findings, following primary versus non-primary maternal CMV infection (76.8% vs. 8.3%, p < .001). Symptomatic congenital CMV disease following a non-primary infection is more frequent if gestational hypertensive disorders and/or gestational diabetes mellitus have ensued during pregnancy (33.3% vs. 9.9%, p <0.038), as well as if any medications were taken throughout gestation (50% vs. 16.8%, p <0.016). CMV-IgM demonstrates a low detection rate for non-primary maternal infection during pregnancy compared to primary infection (25% vs. 75.8%, p = 0.0008).Conclusion: Non-primary maternal CMV infection has an impact on the neonate. Although not readily diagnosed during pregnancy, knowledge of risk factors may aid in raising clinical suspicion. [ABSTRACT FROM AUTHOR]

We retrospectively assessed the yield of early postnatal ultrasound scans in neonates with documented antenatal hydronephrosis. We reviewed recording data of prenatal renal ultrasound for 178 newborn infants and the results of renal ultrasound performed during the first days of life. Of 119 infants with prenatal diagnosis of mild hydronephrosis (renal pelvic diameter <10 mm), 116 (97.5%) had postnatal ultrasound results showing normal or mild hydronephrosis. Prenatal diagnosis of severe hydronephrosis (renal pelvic diameter >20 mm; 10 infants) was correlated with high incidence (90%) of moderate and severe postnatal hydronephrosis. Prenatal diagnosis of moderate hydronephrosis (renal pelvic diameter 10 to 20 mm) resulted in moderate postnatal hydronephrosis in 20% and improvement in 80% of the newborn infants. Our evidence supports the option of delaying postnatal renal ultrasound in infants with prenatal diagnosis of mild hydronephrosis (renal pelvic diameter <10 mm). This strategy can safely reduce the number of early postnatal studies and consequently significantly decrease hospitals' inpatient workload. [ABSTRACT FROM AUTHOR]