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Assessing the integrity of industrial and civil appliances has become a priority worldwide. Noteworthy, this goal requires a strong synergy between multiple tools, disciplines, and approaches to be attained via a joint hardware-software co-design of the different Structural Health Monitoring (SHM) system components. This work proposes the $\sf{MAC4PRO}$ architecture, a sensor-to-cloud monitoring platform that seamlessly integrates sensing and software technologies for accurate data measurement, transmission, and analysis. The developed solution stands out for its interoperability and versatility, making it a promising candidate for integration in the next generation of smart structures. Our platform was validated during extensive experimental campaigns targeted at various industrial scenarios. The results show that the $\sf{MAC4PRO}$ architecture can identify subtle changes, such as 1mm size leakage events in pipeline circuits, or less than 1% frequency drifts in civil buildings after seismic excitation, while ensuring more than 90% reduction in the edge-to-cloud data transfer process.

Purpose:Gaucher disease carrier screening is controversial in the medical community. The goal of this study was to explore current Gaucher disease carrier screening practices of prenatal healthcare providers.Methods:Prenatal healthcare providers were invited by email to complete an electronic-based survey.Results:A total of 1,454 prenatal healthcare providers, including 209 genetic counselors, 450 midwives, and 795 physicians, completed the study. The majority of genetic counselors (n = 208/209, >99%), physicians (n = 415/450, 92%), and midwives (n = 634/795, 80%) currently offer Jewish ancestry disease carrier screening to couples in whom one or both partners are Jewish. Of providers who offer Jewish ancestry disease screening, the majority of genetic counselors (n = 199/208, 96%) and physicians (n = 352/415, 85%) always or sometimes offer Gaucher disease screening whereas the majority of midwives (n = 357/634, 56%) never offer Gaucher disease screening.Conclusion:This study presents the first report of Gaucher disease carrier screening practices of the prenatal healthcare providers in North America. Our results indicate that Gaucher disease carrier screening is being offered at a high rate within the scope of Jewish ancestry-based carrier screening. This may highlight a need to move away from the debate as to whether Gaucher disease carrier screening should be offered and, instead, focus on how best to provide Gaucher disease carrier screening services.Genet Med 2012:14(10):844–851

Gaucher disease carrier screening is controversial in the medical community. The goal of this study was to explore current Gaucher disease carrier screening practices of prenatal healthcare providers.

The short story "Birth," by Nicholas D. Mennuti is presented.

The purpose of this study was to determine whether a lidocaine-enhanced lubricant that was used topically and instilled into the urethra decreased infants' distress that was associated with catheterization.

Presents the short story "Connected," by Nicholas D. Mennuti.

Objective: To assess practices of obstetrician-gynecologists regarding carrier screening for cystic fibrosis (CF).Methods: A questionnaire investigating practice patterns and opinions pertaining to CF screening was mailed to 1165 members of the American College of Obstetricians and Gynecologists (ACOG), of whom 565 participate in the Collaborative Ambulatory Research Network (CARN) and 600 were randomly selected.Results: Of the questionnaires, 64% were returned. Statistical analyses were limited to the 632 respondents whose primary medical specialty was gynecology (Gyn Only) or obstetrics and gynecology (ObGyn). CARN membership was not a significant factor on any nondemographic measure. Almost one-half of physicians do not ask nonpregnant patients their family history of CF or provide them with information about CF screening. The majority of ObGyns (88.7%) ask obstetric patients their family history of CF, and offer CF carrier screening. Almost two-thirds (65.8%) offer screening to all prenatal patients. Among those ObGyns who selectively offer CF screening to pregnant patients, only 27.4% utilized all of the selection criteria in the guidelines. Liability for not offering screening, familiarity with CF, and the ability to interpret a positive screening test were important physician concerns.Conclusion: The results indicate a need for minimizing the complexity of clinical guidelines for population-based genetic screening, prospective assessment of implementation and focused continuing education for providers.

Objective: To assess practices of obstetrician-gynecologists regarding carrier screening for cystic fibrosis (CF).

AbstractThe aim of this study was to calculate the risk for aneuploidy in twin pregnancies between 9?14 weeks utilizing maternal age, race and dizygotic twinning rates. Using previously published risks for aneuploidy in singletons and twins at the time of amniocentesis and at term, we calculated new risk estimates for twins at 9?14 weeks gestation or at the time of chorionic villus sampling. Using these tables, the risk for trisomy 21 in at least one fetus of a twin gestation in a 32-year-old at 9?14 weeks is 1/285 for Whites and for African- Americans. This is equivalent to the risk for trisomy 21 (1/265) in a 35-year-old woman with a singleton at the same gestational age. The risks for trisomies 18 and 13 also follow similar trends. In counseling women with twin pregnancies at the time of first trimester nuchal translucency screening or chorionic villus sampling, it should be noted that the maternal age-related risk for aneuploidy for a 32-year-old is equivalent to that of a 35-year-old woman with a singleton gestation.

We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism. The mother in this family had been diagnosed previously with Robinow syndrome; subsequently, her diagnosis was reclassified. Her pregnancy was closely monitored antenatally with serial ultrasound examinations. Delayed ossification of the humerus was noted prenatally. Her son had ambiguous genitalia and similar skeletal manifestations as his mother. A comparison to other known and suspected cases of dominant omodysplasia is presented. Our observations confirm the existence of a dominant variant of omodysplasia, document genital hypoplasia as an important feature of this syndrome in males and highlight the need to differentiate this entity from Robinow syndrome. © 2002 Wiley-Liss, Inc.

Background: The simultaneous assessment of perfusion and function with the use of technetium 99m sestamibi gated single photon emission computed tomography (SPECT) is helpful for the detection of myocardial viability, but its value in comparison with more established methods is not yet defined. Methods and Results: This study compared low-dose dobutamine (LDD) nitrate-enhanced gated SPECT with LDD echocardiography for predicting recovery of regional ventricular function after revascularization in 25 patients with ischemic cardiomyopathy. In both studies, regional function (wall motion and thickening) at rest, during inotropic stimulation, and after revascularization was scored by a 4-point scale. In LDD echocardiography, the prediction of reversible dysfunction was based on the recognition of contractile reserve in asynergic (hypokinetic or a-dyskinetic) segments. In LDD gated sestamibi SPECT, reversible dysfunction was predicted on the basis of perfusion quantification (sestamibi uptake > 50%) in a-dyskinetic segments and on the basis of contractile reserve in hypokinetic segments. LDD echocardiography predicted reversible dysfunction with sensitivity, specificity, and global accuracy of 57%, 85%, and 75%, respectively. The sensitivity and specificity of LDD gated SPECT for identifying dysfunctional segments capable of functional recovery were 77% and 88%, respectively, with a diagnostic accuracy of 84% (P< .02 vs LDD echocardiography). Conclusions: The combined use of 2 different markers of viability, such as cellular integrity in a-dyskinetic segments and contractile reserve in hypokinetic segments, as permitted by LDD gated sestamibi SPECT, showed higher predictive accuracy for reversible dysfunction than the assessment of contractile reserve in all asynergic segments with LDD echocardiography. (J Nucl Cardiol 2002;9:402-6.)

Background: The role of gated single photon emission computed tomography (SPECT) in improving viability detection with the use of perfusion imaging is uncertain. This study aimed to verify whether the classification of baseline regional dysfunction with gated SPECT helps to predict functional recovery with the use of quantitative perfusion imaging. Methods and Results: Resting nitrate-enhanced sestamibi gated SPECT was performed in 31 patients with left ventricular dysfunction, who later underwent coronary revascularization. With the use of a 16-segment model, tracer activity was quantified, and wall motion and thickening were estimated with a 4-point scoring scheme. Reversible dysfunction was assessed with follow-up gated SPECT. According to receiver operating characteristic curve analysis, the best overall cutoff for predicting reversible dysfunction in asynergic segments was 50% of peak activity or greater, with 83% sensitivity, 54% specificity, and 64% accuracy. When the segments were divided according to wall motion in resting gated SPECT, the optimal activity cutoff was greater than 68% for hypokinetic and 50% or greater for adyskinetic segments. With the use of 2 thresholds, the overall sensitivity remained good (76%), whereas specificity increased to 73% (P < .0005) and accuracy to 74% (P < .02). Conclusions: Regional dysfunction assessment directly on perfusion images permits use of different activity thresholds with an improvement over a single cutoff for all asynergic segments. Therefore combining perfusion and functional data with nitrate-enhanced gated SPECT at rest appears to be a promising approach for viability detection.

Background.The role of gated single photon emission computed tomography (SPECT) in improving viability detection with the use of perfusion imaging is uncertain. This study aimed to verify whether the classification of baseline regional dysfunction with gated SPECT helps to predict functional recovery with the use of quantitative perfusion imaging. Methods and Results.Resting nitrate-enhanced sestamibi gated SPECT was performed in 31 patients with left ventricular dysfunction, who later underwent coronary revascularization. With the use of a 16-segment model, tracer activity was quantified, and wall motion and thickening were estimated with a 4-point scoring scheme. Reversible dysfunction was assessed with follow-up gated SPECT. According to receiver operating characteristic curve analysis, the best overall cutoff for predicting reversible dysfunction in asynergic segments was 50% of peak activity or greater, with 83% sensitivity, 54% specificity, and 64% accuracy. When the segments were divided according to wall motion in resting gated SPECT, the optimal activity cutoff was greater than 68% for hypokinetic and 50% or greater for adyskinetic segments. With the use of 2 thresholds, the overall sensitivity remained good (76%), whereas specificity increased to 73% (P< .0005) and accuracy to 74% (P< .02). Conclusions.Regional dysfunction assessment directly on perfusion images permits use of different activity thresholds with an improvement over a single cutoff for all asynergic segments. Therefore combining perfusion and functional data with nitrate-enhanced gated SPECT at rest appears to be a promising approach for viability detection. (J Nucl Cardiol 2001;8:555-60.)

We report the mid‐trimester prenatal diagnosis of Neu–Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid‐trimester. Growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS. Copyright © 2001 John Wiley & Sons, Ltd.

We report the mid-trimester prenatal diagnosis of Neu–Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. Growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS. Copyright © 2001 John Wiley & Sons, Ltd.

Background: The value of gated single photon emission computed tomography (SPECT) in the assessment of wall motion (WM) in patients with severe perfusion defects and in the evaluation of low-dose dobutamine (LDD)-induced changes is not yet established. In patients with chronic coronary artery disease who have left ventricular (LV) dysfunction, the results of nitrate-enhanced technetium 99m sestamibi (sestamibi) gated SPECT for the evaluation of resting and LDD WM were compared with those of baseline and LDD echocardiography (LDDE). Methods and Results: Thirty-seven patients underwent echocardiography and nitrateenhanced sestamibi gated SPECT within 1 week at rest and during LDD infusion. WM was scored from 1 (normal) to 4 (dyskinetic) by using a 16-segment model. Segments with sestamibi uptake less than 30% were considered unsuitable for WM analysis (36 of 592 segments). Echocardiography was technically unreliable in 10 of 592 segments. The precise agreement between echocardiography and gated SPECT for baseline regional WM was 68.4% (kappa = 0.54), without significant differences for the involved coronary artery territory. The agreement for ± 1 WM scoring was 96.5% (kappa = 0.94). Contractile reserve during LDD was detected by means of echocardiography in 36% and by means of sestamibi gated SPECT in 33% of baseline asynergic segments. Agreement for detection of WM improvement in response to LDD was 74% (kappa = 0.41). The overall and ± 1 WM score agreement for LDD WM was 67.5% (kappa = 0.50) and 94.7% (kappa = 0.91), respectively. A significant correlation between echocardiography and gated SPECT was observed for both baseline (ρ= 0.78) and LDD (ρ= 0.74) WM score index. Conclusions: In patients with coronary artery disease who have LV dysfunction, nitrateenhanced sestamibi gated SPECT allows a reliable WM evaluation, both at rest and during LDD infusion, in almost all segments and provides results in agreement with LDDE. (J Nucl Cardiol 2000;7:426–31.)

The purpose of this study was to evaluate the prenatal characteristics of congenital nephrosis of the Finnish type (CNF). Patients presenting with elevated maternal serum and/or amniotic fluid α-fetoprotein levels, normal ultrasound examinations and normal fetal karyotypes were included.A retrospective cohort study was conducted using questionnaires sent to all board certified clinical geneticists. Perinatal outcome, including histologic verification of CNF, was obtained.Forty index cases met the above criteria. Ten cases ultimately did not have the diagnosis of CNF, with a median MSAFP level of 7.59 MoM (range 2.7-27.64 MoM) and a median AFAFP level of 10.99 MoM (range 1.47-128.6 MoM). In the affected cohort of index pregnancies, the initial median MSAFP level was 14.49 MoM (range 3.1-38.0 MoM); the median AFAFP level was 40.0 MoM (range 2.4-80.9).MSAFP and AFAFP levels may be lower than previously recognized in patients carrying fetuses with CNF. There is significant overlap between the affected and unaffected patients.

The purpose of this study was to evaluate the prenatal characteristics of congenital nephrosis of the Finnish type (CNF). Patients presenting with elevated maternal serum and/or amniotic fluid α-fetoprotein levels, normal ultrasound examinations and normal fetal karyotypes were included. A retrospective cohort study was conducted using questionnaires sent to all board certified clinical geneticists. Perinatal outcome, including histologic verification of CNF, was obtained. Forty index cases met the above criteria. Ten cases ultimately did not have the diagnosis of CNF, with a median MSAFP level of 7.59 MoM (range 2.7–27.64 MoM) and a median AFAFP level of 10.99 MoM (range 1.47–128.6 MoM). In the affected cohort of index pregnancies, the initial median MSAFP level was 14.49 MoM (range 3.1–38.0 MoM); the median AFAFP level was 40.0 MoM (range 2.4–80.9). MSAFP and AFAFP levels may be lower than previously recognized in patients carrying fetuses with CNF. There is significant overlap between the affected and unaffected patients. J. Matern.-Fetal Med. 6:164–167, 1997. © 1997 Wiley-Liss, Inc.

In view of the lack of ionizing radiation, ability to image in a variety of planes, and high contrast resolution, magnetic resonance (MR) imaging may have a role in obstetrical management. Three fetuses with severe cerebral abnormalities were studied by MR in utero. The findings were correlated with ultrasound examinations and with autopsy results. Ventricular dilatation and progression of hydrocephalus were detected by MR. Although fetal motion may affect image quality, diagnostically useful images were obtained with imaging times of 2.5 min.

During an 8-year period, we managed 42 women with 101 pregnancies with previously diagnosed but uncorrected uterine malformations referred to our institution for highrisk obstetric care. All patients were managed under the same standardized protocol requiring weekly visits and decreased physical activity. The population studied consisted of four groups of pregnancies with the following uterine anomalies unicornuate (five), bicornuate (61), septate (25), and didelphys (ten). Sixty percent of the pregnancies in the unicornuate and didelphys group reached term, 39 in the bicornuate group, and 48 in the septate group. Preterm labor requiring tocolysis occurred in 21 of the pregnancies in the bicornuate group and 15 of the pregnancies in the septate group. Cerclage was placed in 5 of the pregnancies in the bicornuate group. Before our care, the fetal survival rate for pregnancies in the bicornuate and septate groups was 52 and 53, respectively; with our management protocol, it was 58 and 65, differences that were not statistically significant. Our experience suggests that high-risk obstetric intervention does not obviate the potential benefit of metroplasty, especially for patients with a bicornuate or septate uterus. We believe that traditional indications for metroplasty should continue to be used.

To evaluate quantitative hCG measurements and transvaginal ultrasound in the diagnosis of ectopic pregnancy in patients presenting to the emergency department.

Periconceptional folic acid supplementation has been shown to decrease the first occurrence of isolated neural tube defects (NTDs) by as much as 50%, and to decrease the recurrence risk for NTDs by more than 70%. The possible mechanisms of vitamin supplementation in the prevention of NTDs are discussed, as are the current recommendations for reproductive-age women. Further, the limitations of dietary and pharmacological recommendations with regard to patient compliance as well as the possibility of grain fortification are reviewed.

Objective: This study examined the mean nursing time spent providing discharge planning and home care to women who delivered by unplanned cesarean birth and examined differences in nursing time required by women with and without morbidity.

The nature and origins of amniotic fluid ALP activity Were investigated early (14 to 22 weeks) and late (25 to 44 weeks) in pregnancy. The lotal enzyme activities for both stages were significantly different and considerable changes in the activities of individual enzyme components occurred. Early activity consists of intestinal (81%.}, bone/liver/kidney (15%), and placental (4%) ALP. In late fluids, the values are 5%, 69%, and 27%, respectively. The intestinai enzyme is shown to be of fetal origin, presumably arising from the direct entry of deSquamated Intestinal mucosal cells into the amniotic fluid. The bone/liver/kidney enzyme is mostly of maternal serum origin early with an increased fetal contribution toward term. Early in pregnancy, the placental ALP activity is probably derived both directly from the placenta and from the placental activity in maternal serum. The latter source contributes more toward term.

The frequency of and indications for primary cesarean section delivery of infants with trisomy 18 was evaluated retrospectively by reviewing the obstetric records of the 48 cases of trisomy 18 diagnosed over a 10-year period by three Genetic Centers in Philadelphia. From June, 1969, to June, 1974, four of 20 infants with trisomy 18 were delivered by primary cesarean section (20%). From June, 1974, to June, 1979, the primary cesarean section rate for trisomy 18 rose to 55.6% (15/28). These rates are considerably higher than those for the State of Pennsylvania during the same time intervals (6.10% and 10.00%, respectively). In the latter 5-year interval, 13 of 15 primary cesarean sections were performed for fetal indications, and “fetal distress” was diagnosed in 11 of the 13. The obstetric features of these pregnancies are reviewed. The basis for a clinical suspicion of trisomy 18 during the third trimester and the possible benefit of late-pregnancy prenatal cytogenetic diagnosis in selected cases are discussed.

Ninety-seven amniotic fluid (AF) specimens, 67 with male fetuses and 30 with female fetuses, were obtained by amniocentesis at 14 to 18 weeks of gestation for analysis of free and protein-bound estrone (E 1), estradiol (E 2), androstenedione (A), testosterone (T), and progesterone (P). Ten maternal plasma (MP) samples of comparable gestational age were analyzed for the same free and protein-bound steroids. Significantly lower total E 1, E 2, A, and T, but not P, levels were found in AF when compared to MP. The percentage of free steroids was higher in AF than in MP, while the percentage of specific protein-bound steroids was lower in the AF than in MP. Free (unbound) steroid levels of E 1and P were higher in AF than in MP, whereas levels of E 2were lower in AF than in MP. The free A and T levels in MP were lower than in AF with male fetuses, yet higher than in AF with female fetuses. Possible biologic activity of steroids in this fluid may depend on the dynamic balance between the free, the specific protein-bound, and the nonspecific protein-bound steroids.

Two cases of severe Rh sensitization requiring a total of six intrauterine transfusions are presented. In both cases the amniotic fluid remained free of gross contamination with blood after transfusions, and serial spectrophotometric determinations were performed for Δ OD. In both cases the cord blood studies and clinical course of the newborn correlated well with the posttransfusion amniotic fluid studies. Although it has not been generally recommended that serial amniotic fluid studies be performed after intrauterine transfusion, these cases suggest that when such studies can be performed they may be of value in assessing prognosis and perhaps in the timing of subsequent intrauterine transfusions and of delivery.

Objectives.To evaluate the costs and clinical effects of 16 alternative strategies for cystic fibrosis (CF) carrier screening in the reproductive setting; and to test the sensitivity of the results to assumptions about cost and detection rate, stakeholder perspective, DNA test specificity, chance of nonpaternity, and couples' reproductive plans. Method.Cost-effectiveness analysis. Results.A sequential screening strategy had the lowest cost per CF birth avoided. In this strategy, the first partner was screened with a standard test that identifies 85% of carriers. The second partner was screened with an expanded test if the first partner's screen was positive. This strategy identified 75% of anticipated CF births at a cost of $367,000 each. This figure does not include the lifetime medical costs of caring for a patient with CF, and it assumes that couples who identify a pregnancy at risk will choose to have prenatal diagnosis and termination of affected pregnancies. The cost per CF birth identified is approximately half this figure when couples plan two children. Conclusions.The cost-effectiveness of CF carrier screening depends greatly on couples' reproductive plans. CF carrier screening is most cost-effective when it is performed sequentially, when the information is used for more than one pregnancy, and when the intention of the couple is to identify and terminate affected pregnancies. These conclusions are important for policy considerations regarding population-based screening for CF, and may also have important implications for screening for less common diseases.

Between March 1986 and April 1990, 22 consecutive fetuses (at gestational ages of 21 to 38 weeks) with a suspected diagnosis of critical (ductus-dependent) left ventricular outflow tract obstruction on fetal echocardiogram were referred to our center for delivery and surgical treatment. Diagnoses were hypoplastic left heart syndrome (n = 16), valvular aortic stenosis (n = 2), common atrioventricular canal with subaortic stenosis (n = 3), and single ventricle with subaortic stenosis (n = 1). Postnatal echocardiography revealed that fetal echocardiography was correct in predicting left ventricular outflow tract obstruction to be critical in all but one patient, for a positive predictive value of 96%. Of the 21 patients with true, critical left ventricular outflow tract obstruction, 17 patients underwent cardiac surgery as neonates (birth to 6 days of age, median 2 days); 13 (or 77%) survived and were discharged from the hospital. In addition, one patient underwent successful balloon aortic valvotomy for critical valvular aortic stenosis but later died of sepsis. Lethal chromosomal and congenital abnormalities should be sought and are contraindications for this approach. In utero transport of fetuses with suspected critical left ventricular outflow tract obstruction to a neonatal cardiac surgical center can result in improved neonatal condition and may improve overall survival.

Summary Prenatal diagnosis in a fetus with holoprosencephaly showed a 45,X karyotype and a suspected 18p abnormality. At birth, the fetus presented with normal male genitalia. Y chromatin was not cytogenetically detectable by Q-, G-, or G11-banding. Mosaicism for a cell line containing a Y chromosome was not observed in amniocytes, lymphocytes, or skin fibroblasts. Southern blot analysis for 11 different Y-DNA loci demonstrated the presence in the patient's genome of sequences derived from the short arm, centromeric region, and proximal long arm of the Y chromosome (intervals 1–5). The distal long arm of the Y (intervals 6 and 7) was absent. In situ hybridization with the Y-derived probe pDP105 showed silver grains over the short arm of the del(18) chromosome, suggesting a Y/18 translocation with loss of 18p and distal Yq material.

Over the past decade, the ability to diagnose neural tube defects has changed from being limited to radio-graphic detection of anencephaly during later pregnancy to highly reliable diagnosis of the majority of neural tube defects during the early second trimester. Aspects of prenatal diagnosis of neural tube defects relevant to the perinatologist are discussed.