Development of a semi-automated tool to measure fetal abdominal wall thickness during ultrasound at 20 weeks' gestation.

OBJECTIVES: To develop a semi-automated tool for measuring fetal abdominal wall thickness (AWT). To validate the software using images captured by other centers and create a nomogram for fetal AWT between 18 and 20 weeks. METHODS: A semiautomated tool that measured AWT was developed using images captured at the routine 20-week morphology scan. The software was developed using digital images captured routinely during scans of low-risk women. Inter- and intraobserver reliability was assessed between manual and semi-automated measures. The tool was validated using images acquired from other centers. Linear regression and quadratic polynomials were used to create a nomogram for AWT. RESULTS: The semi-automated tool was able to measure AWT in all images. Interoperator reliability was 0.90 and 0.97 (P < 0.05) for manual and semi-automated methods, respectively. Measurement agreement varied between three operators from moderate to excellent (0.77, 0.87, 0.92), with overall agreement being good (0.85). The tool could be successfully applied to 89% of images from other centers. A nomogram was generated for AWT measurements of fetuses at 18-20 weeks in normal, low risk mothers. CONCLUSION: Semi-automated measurement of AWT was feasible using images captured during the routine 20-week scan. This approach had lower inter- and intraobserver variability compared to manual measurement.

Validation of the first-trimester machine learning model for predicting pre-eclampsia in an Asian population.

OBJECTIVES: To evaluate the performance of an artificial intelligence (AI) and machine learning (ML) model for first-trimester screening for pre-eclampsia in a large Asian population. METHODS: This was a secondary analysis of a multicenter prospective cohort study in 10 935 participants with singleton pregnancies attending for routine pregnancy care at 11-13+6 weeks of gestation in seven regions in Asia between December 2016 and June 2018. We applied the AI+ML model for the first-trimester prediction of preterm pre-eclampsia (<37 weeks), term pre-eclampsia (≥37 weeks), and any pre-eclampsia, which was derived and tested in a cohort of pregnant participants in the UK (Model 1). This model comprises maternal factors with measurements of mean arterial pressure, uterine artery pulsatility index, and serum placental growth factor (PlGF). The model was further retrained with adjustments for analyzers used for biochemical testing (Model 2). Discrimination was assessed by area under the receiver operating characteristic curve (AUC). The Delong test was used to compare the AUC of Model 1, Model 2, and the Fetal Medicine Foundation (FMF) competing risk model. RESULTS: The predictive performance of Model 1 was significantly lower than that of the FMF competing risk model in the prediction of preterm pre-eclampsia (0.82, 95% confidence interval [CI] 0.77-0.87 vs. 0.86, 95% CI 0.811-0.91, P = 0.019), term pre-eclampsia (0.75, 95% CI 0.71-0.80 vs. 0.79, 95% CI 0.75-0.83, P = 0.006), and any pre-eclampsia (0.78, 95% CI 0.74-0.81 vs. 0.82, 95% CI 0.79-0.84, P < 0.001). Following the retraining of the data with adjustments for the PlGF analyzers, the performance of Model 2 for predicting preterm pre-eclampsia, term pre-eclampsia, and any pre-eclampsia was improved with the AUC values increased to 0.84 (95% CI 0.80-0.89), 0.77 (95% CI 0.73-0.81), and 0.80 (95% CI 0.76-0.83), respectively. There were no differences in AUCs between Model 2 and the FMF competing risk model in the prediction of preterm pre-eclampsia (P = 0.135) and term pre-eclampsia (P = 0.084). However, Model 2 was inferior to the FMF competing risk model in predicting any pre-eclampsia (P = 0.024). CONCLUSION: This study has demonstrated that following adjustment for the biochemical marker analyzers, the predictive performance of the AI+ML prediction model for pre-eclampsia in the first trimester was comparable to that of the FMF competing risk model in an Asian population.

Imaging spectrum of posterior fossa anomalies on foetal magnetic resonance imaging with an algorithmic approach to diagnosis.

Posterior fossa abnormalities are one of the most common indications for performing foetal magnetic resonance imaging (FMRI). Ultrasonography is the initial imaging modality for assessment of foetal posterior fossa. Abnormal findings on ultrasonography warrant further evaluation with FMRI because it offers excellent soft-tissue contrast resolution and multiplanar capabilities. The neurological prognosis of different posterior fossa anomalies varies widely. FMRI plays a crucial role in confirming the diagnosis, assessing the prognosis, and counselling patients regarding continuation of pregnancy and possible post-natal developmental outcome. In this review we present the imaging spectrum of posterior fossa anomalies that readers can encounter in practice, highlight salient points in favour of each diagnosis, and provide a simplified algorithmic approach to reach the final diagnosis.

Evaluation of a hospital-based surveillance system for birth defects in Chennai, India.

The Birth Defects Registry of India-Chennai (BDRI-C) was created in 2001 to monitor birth defects and provide timely referrals. Using established guidelines to evaluate surveillance systems, we examined the following attributes of BDRI-C to help strengthen the registry: simplicity, flexibility, data quality, representativeness, acceptability, timeliness, and stability. We reviewed BDRI-C documents, including reporting forms; interviewed key informants; and calculated data completeness, coverage, and reporting time. BDRI-C captured 14% of the births in Chennai April 2013 - March 2014. About 7% of institutions in Chennai registered in BDRI-C, and of those registered, 37% provided data in 2013. Median reporting time was 44 days after birth in 2013. BDRI-C is a useful, simple, flexible, and timely passive birth defects surveillance system; however, improvements can be made to ensure BDRI-C is representative of Chennai, data processing and quality checks are on-going, and the system is acceptable for member institutions and stable.

Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

Intrafetal laser for midtrimester TRAP sequence-experience from a single center.

OBJECTIVE: To report our experience and evaluate outcomes in monochorionic pregnancies with Twin Reversed Arterial Perfusion sequence with intrafetal laser therapy. METHODS: Retrospective review of records of all pregnancies with TRAP sequence treated by intrafetal laser therapy between 2011 January and 2015 December that were retrieved and analysed. RESULTS: Electronic search of the scan database retrieved 57 cases of TRAP sequence during the study period, 7 triplets and 50 monochorionic twins. Intrafetal laser was done in 27 cases, 22 cases of twins and 5 cases of triplets. In the twins group, median gestational age at intervention was 22.5 weeks, the earliest done at 16.3 weeks. The median gestational age at delivery and birth weight was 37 weeks and 2.5 Kgs. The median procedure and delivery interval was 14 weeks. Live birth rate was 17/22 (77%) the pump survival rate was 16/22 (73%). Pregnancies with non-surviving pump were 5 in numbers (5/22). A repeat procedure was warranted in one case. In the triplet group, median gestational age at intervention, delivery and procedure delivery interval was 18, 35 and 17 weeks. CONCLUSION: Intrafetal laser is simple, effective and the treatment of choice to interrupt the vascular supply to acardiac twin.

ARTSENS® Pen-portable easy-to-use device for carotid stiffness measurement: technology validation and clinical-utility assessment.

OBJECTIVE: The conventional medical imaging modalities used for arterial stiffness measurement are non-scalable and unviable for field-level vascular screening. The need for an affordable, easy-to-operate automated non-invasive technologies remains unmet. To address this need, we present a portable image-free ultrasound device-ARTSENS® Pen, that uses a single-element ultrasound transducer for carotid stiffness evaluation. APPROACH: The performance of the device was clinically validated on a cohort of 523 subjects. A clinical-grade B-mode ultrasound imaging system (ALOKA eTracking) was used as the reference. Carotid stiffness measurements were taken using the ARTSENS® Pen in sitting posture emulating field scenarios. MAIN RESULTS: A statistically significant correlation (r > 0.80, p < 0.0001) with a non-significant bias was observed between the measurements obtained from the two devices. The ARTSENS® Pen device could perform highly repeatable measurements (with variation smaller than 10%) on a relatively larger percentage of the population when compared to the ALOKA system. The study results also revealed the sensitivity of ARTSENS® Pen to detect changes in arterial stiffness with age. SIGNIFICANCE: The easy-to-use technology and the automated algorithms of the ARTSENS® Pen make it suitable for cardiovascular risk assessment in resource-constrained settings.

Prospective evaluation of screening performance of first-trimester prediction models for preterm preeclampsia in an Asian population.

BACKGROUND: The administration of aspirin <16 weeks gestation to women who are at high risk for preeclampsia has been shown to reduce the rate of preterm preeclampsia by 65%. The traditional approach to identify such women who are at risk is based on risk factors from maternal characteristics, obstetrics, and medical history as recommended by the American College of Obstetricians and Gynecologists and the National Institute for Health and Care Excellence. An alternative approach to screening for preeclampsia has been developed by the Fetal Medicine Foundation. This approach allows the estimation of patient-specific risks of preeclampsia that requires delivery before a specified gestational age with the use of Bayes theorem-based model. OBJECTIVE: The purpose of this study was to examine the diagnostic accuracy of the Fetal Medicine Foundation Bayes theorem-based model, the American College of Obstetricians and Gynecologists, and the National Institute for Health and Care Excellence recommendations for the prediction of preterm preeclampsia at 11-13+6 weeks gestation in a large Asian population STUDY DESIGN: This was a prospective, nonintervention, multicenter study in 10,935 singleton pregnancies at 11-13+6 weeks gestation in 11 recruiting centers across 7 regions in Asia between December 2016 and June 2018. Maternal characteristics and medical, obstetric, and drug history were recorded. Mean arterial pressure and uterine artery pulsatility indices were measured according to standardized protocols. Maternal serum placental growth factor concentrations were measured by automated analyzers. The measured values of mean arterial pressure, uterine artery pulsatility index, and placental growth factor were converted into multiples of the median. The Fetal Medicine Foundation Bayes theorem-based model was used for the calculation of patient-specific risk of preeclampsia at <37 weeks gestation (preterm preeclampsia) and at any gestation (all preeclampsia) in each participant. The performance of screening for preterm preeclampsia and all preeclampsia by a combination of maternal factors, mean arterial pressure, uterine artery pulsatility index, and placental growth factor (triple test) was evaluated with the adjustment of aspirin use. We examined the predictive performance of the model by the use of receiver operating characteristic curve and calibration by measurements of calibration slope and calibration in the large. The detection rate of screening by the Fetal Medicine Foundation Bayes theorem-based model was compared with the model that was derived from the application of American College of Obstetricians and Gynecologists and National Institute for Health and Care Excellence recommendations. RESULTS: There were 224 women (2.05%) who experienced preeclampsia, which included 73 cases (0.67%) of preterm preeclampsia. In pregnancies with preterm preeclampsia, the mean multiples of the median values of mean arterial pressure and uterine artery pulsatility index were significantly higher (mean arterial pressure, 1.099 vs 1.008 [P<.001]; uterine artery pulsatility index, 1.188 vs 1.063[P=.006]), and the mean placental growth factor multiples of the median was significantly lower (0.760 vs 1.100 [P<.001]) than in women without preeclampsia. The Fetal Medicine Foundation triple test achieved detection rates of 48.2%, 64.0%, 71.8%, and 75.8% at 5%, 10%, 15%, and 20% fixed false-positive rates, respectively, for the prediction of preterm preeclampsia. These were comparable with those of previously published data from the Fetal Medicine Foundation study. Screening that used the American College of Obstetricians and Gynecologists recommendations achieved detection rate of 54.6% at 20.4% false-positive rate. The detection rate with the use of National Institute for Health and Care Excellence guideline was 26.3% at 5.5% false-positive rate. CONCLUSION: Based on a large number of women, this study has demonstrated that the Fetal Medicine Foundation Bayes theorem-based model is effective in the prediction of preterm preeclampsia in an Asian population and that this method of screening is superior to the approach recommended by American College of Obstetricians and Gynecologists and the National Institute for Health and Care Excellence. We have also shown that the Fetal Medicine Foundation prediction model can be implemented as part of routine prenatal care through the use of the existing infrastructure of routine prenatal care.

Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.

AIM: Chromosome analysis of prenatal samples and products of conception (POC) has conventionally been done by karyotyping (KT). Shortcomings of KT like high turnaround time and culture failure led to technology innovations, such as the bacterial artificial chromosomes (BAC)s-on-Beads (BoBs)-based tests, Prenatal BoBs (prenatal samples) and KaryoLite BoBs (POC samples). In the present study, we validated and evaluated the utility of each test on prenatal, POC and blood samples. METHODS: Study A (n = 305; 259 prenatal + 46 blood/POC) and Study B (n = 176; 146 POC/chorionic vill + 30 blood/amniotic fluid) samples were analyzed using Prenatal and KaryoLite BoBs kits, respectively. KT, array-based Comparative Genomic Hybridization (arrayCGH) and fluorescence in situ hybridization (FISH) were used for comparison of results. Ability of KaryoLite BoBs to identify ring chromosomes was tested. RESULTS: Prenatal BoBs had zero test failure rate and results of all samples were concordant with KT results. Totally four microdeletions were identified by Prenatal BoBs but not by KT. In Study B, all but two POC samples (one triploid and one tetraploid) were concordant with KT and arrayCGH. Partial chromosomal imbalance detection rate was ~64% and KaryoLite BoBs indicated the presence of a ring chromosome in all four cases. The failure rate of KaryoLite BoBs was 3%. CONCLUSION: We conclude that Prenatal BoBs (common aneuploidies and nine microdeletions) together with KT constitutes more comprehensive prenatal testing compared to FISH and KT. KaryoLite BoBs for aneuploidies of all chromosomes is highly successful in POC analysis and the ability to indicate presence of ring chromosomes improves its clinical sensitivity. Both tests are robust and could also be used for different specimens.

Utility of Various Ultrafast Magnetic Resonance Sequences in the Detection of Fetal Intracranial Hemorrhage.

OBJECTIVE: The aim of this study is to compare the images obtained from standard ultrafast magnetic resonance (MR) imaging sequences with gradient (GRE) sequence images in identifying fetal intracranial hemorrhage (ICH). MATERIALS AND METHODS: MR images of fetal brains with ICH done between October 2012 and September 2015 were reviewed. The images obtained from four ultrafast MR sequences- Turbo Fast Low Angle Shot (Turbo FLASH) T1-weighted images, Half Fourier Acquisition single-shot turbo spin echo (HASTE) T2-weighted images, b0 images of diffusion-weighted imaging (DWI) and b800 images of DWI were compared with images obtained from GRE sequence in depicting fetal ICH. RESULTS: Out of the 212 fetuses during the study period, 15 fetuses had ICH. In the 15 fetuses with ICH as detected on GRE, Grade1 germinal matrix hemorrhage was seen in 5 fetuses, Grade 2 in 4 fetuses, Grade 3 in 3 fetuses, and Grade 4 in two fetuses. Subdural hemorrhage was seen in 1 fetus. In comparison to GRE sequence, b0 of DWI sequence was almost equal in the depiction of ICH. T2 HASTE sequence also delineated hemorrhage, although not as effectively as GRE and b0 images of images DWI. T1 Turbo FLASH and b800 images of DWI were less reliable in the depiction of fetal ICH but were useful in predicting the stage of hemorrhage. CONCLUSION: As compared to GRE sequence, b0 images of DWI followed by HASTE are the two preferred ultrafast sequences in the diagnosis of fetal ICH.

Down Syndrome Screening in India: Are We There Yet?

Down syndrome is the most common cause of intellectual disability among live born children and is amenable to prenatal detection. Screening for Down syndrome on a population basis requires a thorough understanding of the principles involved in the screening tests. We discuss the rationale behind the commonly available screening tests and the Indian scenario in this setting.

Persistent Left Superior Vena Cava in Fetuses: An Autopsy Series.

OBJECTIVE: To review fetal autopsy reports with persistent left superior vena cava (PLSVC) and identify its associations. MATERIALS AND METHODS: Autopsy reports of all fetuses diagnosed with PLSVC in our center from January 2011 to December 2015 were reviewed. Fetuses less than 15 weeks gestational age along with autolyzed and damaged hearts were excluded from the study. The study group was compared with controls during this period. RESULTS: Prenatal ultrasound detection rate of PLSVC was 13.06%. All the cases had associated anomalies of which 96% had extra cardiac anomalies and 67% had intrinsic cardiac defects among which septal defects were most common (39.6%). Anomalies of cardiovascular, respiratory, genitourinary and musculoskeletal, hypoplastic thymus and single umbilical artery were significantly higher in the study group. CONCLUSION: This study emphasizes on the importance of improving the technical skill for imaging the three-vessel view as PLSVC seems to have significant associations.

Establishing Prenatal Surgery for Myelomeningocele in Asia: The Singapore Consensus.

OBJECTIVES: The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia. MATERIAL AND METHODS: A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session. The practice suggestions in this statement were from a targeted literature review and expert opinion. RESULTS: A high prevalence of MMC in Asia supports an effort to adopt the procedure, but only in established FTCs with good maternal and neonatal ancillary supports. The falling incidence of MMCs may affect case volume and maintenance of skill. A regional approach was recommended. Fetal benefits have to be weighed against maternal risks, with a consideration of recent outcome data from the endoscopic approach. Responsible FTCs need standardized diagnosis and management, with their long-term outcome data available for an audit. CONCLUSIONS: It is envisaged that the information presented by this multidisciplinary team would be useful for FTCs in Asia or elsewhere that plan to establish more advanced fetal care in the future.

Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.

Blomstrand osteochondrodysplasia (BOCD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by accelerated chondrocyte differentiation. In this article, we discuss three cases where lethal skeletal dysplasia was suspected and Blomstrand dysplasia was diagnosed by autopsy. Antenatal ultrasound findings include increased nuchal translucency, tetramicromelia and polyhydramnios. Radiological hallmark is advanced skeletal maturation and bone sclerosis. Histology of long bones revealed narrow cartilagenous cap and changes in the physeal growth zone which showed severe hypoplasia and disorganization of proliferative phase and hypertrophic phase. Homozygous and compound heterozygous mutations in PTHR1 gene have been implicated in the pathogenesis of this chondrodysplasia.

Increased fetal adiposity prior to diagnosis of gestational diabetes in South Asians: more evidence for the 'thin-fat' baby.

AIMS/HYPOTHESIS: Gestational diabetes mellitus (GDM) is associated with an increased future risk of obesity in the offspring. Increased adiposity has been observed in the newborns of women with GDM. Our aim was to examine early fetal adiposity in women with GDM. METHODS: Obstetric and sonographic data was collated for 153 women with GDM and 178 controls from a single centre in Chennai, India. Fetal head circumference (HC), abdominal circumference (AC), femur length (FL) and biparietal diameter (BPD) were recorded at 11, 20 and 32 weeks. Anterior abdominal wall thickness (AAWT) as a marker of abdominal adiposity at 20 and 32 weeks was compared between groups. Adjustments were made for maternal age, BMI, parity, gestational weight gain, fetal sex and gestational age. RESULTS: Fetuses of women with GDM had significantly higher AAWT at 20 weeks (ß 0.26 [95% CI 0.15, 0.37] mm, p < 0.0001) despite lower measures of HC, FL, BPD and AC. AAWT remained higher in the fetuses of women with GDM at 32 weeks (ß 0.48 [0.30, 0.65] mm, p < 0.0001) despite similar measures for HC, FL, BPD and AC between groups. Both groups had similar birthweights at term. There was an independent relationship between fasting plasma glucose levels and AAWT after adjustment as described above. CONCLUSIONS/INTERPRETATION: A 'thin but fat' phenotype signifying a disproportionate increase in adiposity despite smaller or similar lean body mass was observed in the fetuses of mothers with GDM, even at 20 weeks, thus pre-dating the biochemical diagnosis of GDM. Increased AAWT may serve as an early marker of GDM.

Development of a training phantom for compression breast elastography-comparison of various elastography systems and numerical simulations.

The elastic properties of tissue are related to tissue composition and pathological changes. It has been observed that many pathological processes increase the elastic modulus of soft tissue compared to normal. Ultrasound compression elastography is a method of characterization of elastic properties that has been the focus of many research efforts in the last two decades. In medical radiology, compression elastography is provided as an additional tool with ultrasound B-mode in the existing scanners, and the combined features of elastography and echography act as a promising diagnostic method in breast cancer detection. However, the full capability of the ultrasound elastography technique together with B-mode has not been utilized by novice radiologists due to the nonavailability of suitable, appropriately designed tissue-mimicking phantoms. Since different commercially available ultrasound elastographic scanners follow their own unique protocols, training novice radiologists is becoming cumbersome. The main focus of this work is to develop a tissue-like agar-based phantom, which mimics breast tissue with common abnormal lesions like fibroadenoma and invasive ductal carcinoma in a clinically perceived way and compares the sonographic and elastographic appearances using different commercially available systems. In addition, the developed phantoms are simulated using the finite-element method, and ideal strain images are generated. Strain images from experiment and simulation are compared based on image contrast parameters, namely contrast transfer efficiency (CTE) and observed strain, and they are in good agreement. The strain image contrast of malignant inclusions is significantly improved compared to benign inclusions, and the trend of CTE is similar for all elastographic scanners under investigation.

Characterization of biomechanical properties of agar based tissue mimicking phantoms for ultrasound stiffness imaging techniques.

Pathological changes of the body have been observed to change the mechanical properties of soft tissue types which can be imaged by ultrasound elastography. Though initial clinical results using ultrasound elastography in detection of tumors are promising, quantification of signal to noise ratio, resolution and strain image patterns are the best achieved under a controlled study using phantoms with similar biomechanical properties of normal and abnormal tissues. The purpose of this work is to characterize the biomechanical properties of agar based tissue mimicking phantoms by varying the agar concentration from 1.7 to 6.6% by weight and identify the optimum property to be used in classification of cancerous tissues. We performed quasi-static uniaxial compression test under a strain rate of 0.5mm/min up to 15% strain and measured Young's modulus of phantom samples which are from 50kPa to 450kPa. Phantoms show nonlinear stress-strain characteristics at finite strain which were characterized using hyperelastic parameters by fitting Neo-Hookean, Mooney Rivlin, Ogden and Veronda Westmann models. We also investigated viscoelastic parameters of the samples by conducting oscillatory shear rheometry at various precompression levels (2-5%). Loss modulus values are always less than storage modulus which represents the behavior of soft tissues. The increase in agar concentration increases the shear modulus of the samples as well as decreases the linear viscoelastic region. The results suggest that dynamic shear modul are more promising than linear and nonlinear elastic modul in differentiation of various classes of abnormal tissues.

Study of ultrasound stiffness imaging methods using tissue mimicking phantoms.

A pilot study was carried out to investigate the performance of ultrasound stiffness imaging methods namely Ultrasound Elastography Imaging (UEI) and Acoustic Radiation Force Impulse (ARFI) Imaging. Specifically their potential for characterizing different classes of solid mass lesions was analyzed using agar based tissue mimicking phantoms. Composite tissue mimicking phantom was prepared with embedded inclusions of varying stiffness from 50 kPa to 450 kPa to represent different stages of cancer. Acoustic properties such as sound speed, attenuation coefficient and acoustic impedance were characterized by pulse echo ultrasound test at 5 MHz frequency and they are ranged from (1564 ± 88 to 1671 ± 124 m/s), (0.6915 ± 0.123 to 0.8268 ± 0.755 db cm(-1)MHz(-1)) and (1.61 × 10(6) ± 0.127 to 1.76 × 10(6) ± 0.045 kg m(-2)s(-1)) respectively. The elastic property Young's Modulus of the prepared samples was measured by conducting quasi static uni axial compression test under a strain rate of 0.5mm/min upto 10 % strain, and the values are from 50 kPa to 450 kPa for a variation of agar concentration from 1.7% to 6.6% by weight. The composite phantoms were imaged by Siemens Acuson S2000 (Siemens, Erlangen, Germany) machine using linear array transducer 9L4 at 8 MHz frequency; strain and displacement images were collected by UEI and ARFI. Shear wave velocity 4.43 ± 0.35 m/s was also measured for high modulus contrast (18 dB) inclusion and X.XX m/s was found for all other inclusions. The images were pre processed and parameters such as Contrast Transfer Efficiency and lateral image profile were computed and reported. The results indicate that both ARFI and UEI represent the abnormalities better than conventional US B mode imaging whereas UEI enhances the underlying modulus contrast into improved strain contrast. The results are corroborated with literature and also with clinical patient images.

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.