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Background: Cytomorphological distinction between hepatocellular carcinoma and metastatic tumors to the liver may be difficult, especially when these have poor differentiation. The present study was done to assess the diagnostic utility of hepatocyte paraffin-1 (HepPar-1), CD10, and CD34 in differentiating hepatocellular carcinoma from metastatic carcinoma. Materials and Methods: Ultrasound-guided fine-needle aspiration was performed on 50 patients with space-occupying lesions of liver suspicious for malignancy on clinical/radiologic findings. The cytological assessment was done on smears stained with May-Grünwald-Giemsa and hematoxylin and eosin. Cell blocks were prepared, and immunostaining for HepPar-1, CD10, and CD34 was done. Results: In these 50 patients, hepatocellular carcinoma was diagnosed in 7 and metastatic tumors in 43 cases. The sensitivity of smears in diagnosing hepatocellular carcinoma was 100% and the specificity was 95.3%, while the sensitivity and specificity of cell block were 100%. A canalicular pattern of CD10 immunoreactivity had a 100% positive predictive value for diagnosing hepatocellular carcinoma. CD10 had a sensitivity of 57.1% and 41.9% in identification of HCC and metastatic tumors, respectively. For the diagnosis of hepatocellular carcinoma, the sensitivity of CD34 was 85.7% and the specificity of sinusoidal pattern of immunoreactivity was 100%. The sensitivity and specificity of granular cytoplasmic staining pattern of HepPar-1 were 100% in hepatocellular carcinoma. Conclusions: The staining patterns of HepPar-1, CD10, and CD34 are highly specific in distinguishing hepatocellular carcinoma from metastasis. These three immunomarkers should be included in the immunocytochemical panel for differentiating hepatocellular carcinoma from metastatic carcinoma to the liver.
Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Humans , Liver Neoplasms/pathology , Carcinoma, Hepatocellular/pathology , Paraffin , Immunohistochemistry , Biomarkers, Tumor , Diagnosis, Differential , Antigens, CD34 , Hepatocytes/pathology , Cell Adhesion MoleculesABSTRACT
Most cases of retinoblastoma are diagnosed before the age of 5 years. The cases in older age groups can have variable presentations leading to misdiagnosis and management challenges. We report a case of retinoblastoma in an 8-year-old female who was primarily referred as a case of sympathetic ophthalmia due to a co-incidental misleading history of penetrating eye injury to other eye 3 weeks prior. The patient complained of decreased vision in the left eye after 3 weeks of repair of the corneo-scleral laceration in the right eye. Visual acuity in the right and left eye was 3/60 and light perception respectively. The anterior segment examination showed moderate sized keratic precipitates, intense inflammatory cellular reaction with large fluffy cells, hypopyon and dense vitreous exudates. Ultrasonography showed abundant hyperechoic contents within the vitreous cavity in the left globe. The retino-choroid was thickened. The possibility of endophthalmitis and sympathetic ophthalmia was considered. Diagnostic vitrectomy was planned. Intraoperatively, after clearing the exudates, a yellowish white mass lesion was seen superiorly. Post- operatively contrast-enhanced MRI scan confirmed the presence of an enhancing mass lesion in the globe consistent with the diagnosis of intraocular retinoblastoma. Enucleation of left globe was done after chemotherapy. Thus, a high risk of suspicion has to be kept for this malignant tumour in children with unexplained visual loss.
Subject(s)
Retinal Neoplasms , Retinoblastoma , Child , Eye Injuries, Penetrating/diagnosis , Female , Humans , Retinal Neoplasms/diagnosis , Retinoblastoma/diagnosis , Retrospective Studies , VitrectomyABSTRACT
INTRODUCTION: Dearth in the literature pertaining to natural history of acute pancreatitis (AP) necessitates further studies to evaluate the outcome of local pancreatic complications using the revised Atlanta classification. OBJECTIVE: To evaluate the outcomes of local pancreatic complications after first episode of AP, risk factors for their development and predictors of need for intervention. METHODOLOGY: A prospective study was carried out on 50 consecutive cases of AP who developed local pancreatic complications from January 2015 to July 2016. After imaging, they were categorised into acute pancreatic fluid collection (APFC) and acute necrotic collection (ANC). The risk factors for their development and the need for intervention were assessed. RESULTS: Of 50 patients, 20 developed APFC and 30 ANC. Of ANC cases, 27 progressed into walled-off necrosis (WON), of which 4 were managed conservatively and 18 collections were drained percutaneously, 3 underwent endotherapy (transmural drainage and endoscopic necrosectomy) and 2 died following percutaneous drainage (PCD) and surgery. Ten WON collections persisted at the end of 3rd month. Collections resolved in 6 of 20 APFC patients, 14 formed pseudocysts, of which 10 showed resolution with or without intervention and only 4 of them persisted at the end of study. Size of collection ≥6 cm was independent predictor of intervention irrespective of type of collections while in cases of ANC, extensive necrosis (>30%) and multiple collections were more likely to require intervention. CONCLUSION: Incidence of ANC is more common than APFC when local pancreatic fluid collections develop most of which develop WON and require intervention.
Subject(s)
Hospitals, Public/statistics & numerical data , Pancreas/diagnostic imaging , Pancreatic Pseudocyst/diagnostic imaging , Pancreatitis, Acute Necrotizing/diagnostic imaging , Pancreatitis/complications , Acute Disease , Adult , Female , Humans , India/epidemiology , Male , Pancreatic Pseudocyst/pathology , Pancreatitis/epidemiology , Pancreatitis, Acute Necrotizing/pathology , Prospective Studies , Tomography, X-Ray Computed , UltrasonographySubject(s)
Antineoplastic Agents , Drug-Related Side Effects and Adverse Reactions , Retinal Neoplasms , Retinoblastoma , Antineoplastic Agents/therapeutic use , Antineoplastic Combined Chemotherapy Protocols , Humans , Intravitreal Injections , Retinal Neoplasms/drug therapy , Retinoblastoma/drug therapy , Topotecan/adverse effectsABSTRACT
OBJECTIVE: To evaluate the clinical profile and outcome of arterial pseudoaneurysms (PSA) associated with acute and chronic pancreatitis (CP). METHODS: Records of all patients of pancreatitis from 2010 to 2016 were analyzed retrospectively for the development PSAs; clinical profile and outcome parameters were compared between PSAs associated with acute and CP. RESULTS: Of the 980 patients, 46 (all males, age 39.70 ± 11.78 years) developed PSAs, including 19 of 600 of acute pancreatitis (AP) and 27 of 380 of CP. The most common clinical presentation was bleeding (37, 80.4%). The majority of patients was managed nonsurgically, with endovascular embolization in 31 (67.4%) and percutaneous thrombin injection in 9 (19.6%) patients. Pseudoaneurysms in patients with AP were associated more often with fluid collections (94.7% vs. 55.6%, P = 0.004) with more requirement of surgery compared to patients with CP (15.8% vs. 3.7%, P = 0.033). The pattern of arteries involved with PSAs and outcome was similar in AP and CP patients. CONCLUSION: Arterial PSAs were more commonly associated with CP compared to AP with similar presentations. Associated fluid collections and requirement of surgical intervention were higher in PSAs in patients with AP compared to patients with CP.
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Corrosive ingestion is a common form of poisoning. Corrosive agents cause severe damage to the gastrointestinal (GI) tract. The most severe forms of injury can lead to mortality; however, the major concern with this type of injury is life-long morbidity. Upper GI endoscopy is the test of choice for assessing severity in the acute phase of the disease. The long-term management is based on the site, length, number, location, and tightness of the stricture. This information is best provided by the barium contrast studies. In this pictorial review, a spectrum of findings in patients with corrosive injuries of the esophagus and stomach is illustrated. The role of various imaging modalities including barium studies, endoscopic ultrasound, computed tomography, and magnetic resonance imaging is discussed.
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PURPOSE: The aim is to study the clinical profile and outcome of patients presenting with diabetic foot infections (DFI). METHODS: This was a prospective study recruiting patients >18 years of age, with DFI. All patients underwent a detailed history and clinical examination. Patients were classified as per the International Working Group on the Diabetic Foot -IDSA classification. The patients were followed up every month for 3 months. Clinical outcome was studied regarding the rate of amputations, readmissions, and mortality. RESULTS: There were 65 patients with a mean age of 58.49 ± 11.04 years with male predilection (83.08%). Mean duration of diabetes mellitus was 12.03 ± 6.96 years. Ulcer (92.31%) and discharge (72.31%) were the most common presenting complaints. Monomicrobial growth was present in 36 patients (55.38%). Majority of isolates were Gram-negative (71.43%). The most common isolates were Escherichia coli and Staphylococcus aureus (28.57% each). Mild, moderate, and severe DFI was present in 40%, 47.69%, and 12.31% of patients, respectively. Severe DFI was associated with poor ulcer healing (P = 0.02) and higher number of major amputations (P < 0.001). Minor amputations were most commonly associated with moderate and severe DFI. Severe DFI had the highest number of readmissions (P = 0.04). Patients undergoing minor amputations had a significant association with area of ulcer (P < 0.001). CONCLUSION: This study shows the predominance of monomicrobial growth and Gram-negative organisms in diabetic foot patients. With increase in the severity of DFI, there was increased rate of hospital readmissions, amputations (major and minor), and mortality. Dimensions of ulcer may have a bearing on rate of minor amputations.
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Background and study aims There is sparse data on the endoscopic management of caustic-induced gastric outlet obstruction (GOO). The present retrospective study aimed to define the response to endoscopic balloon dilatation (EBD) in such patients and their long-term outcome. Patients and methods The data from symptomatic patients of caustic-induced GOO who underwent EBD at our tertiary care center between January 1999 and June 2014 were retrieved. EBD was performed using wire-guided balloons in an incremental manner. Procedural success and clinical success of EBD were evaluated, including complications and long-term outcome. Results A total of 138 patients were evaluated of whom 111 underwent EBD (mean age: 30.79â±â11.95 years; 65 male patients; 78 patients with isolated gastric stricture; 33 patients with both esophagus plus gastric stricture). The initial balloon diameter at the start of dilatation, and the last balloon diameter were 9.6â±â2.06âmm (6â-â15âmm) and 14.5â±â1.6âmm (6â-â15âmm), respectively. Procedural and clinical success was achieved in 95 (85.6â%) and 108 (97.3â%) patients, respectively, requiring a mean (SD) of 5.3 (2.6) and 7.21 (3.86) sessions, respectively. Patients with isolated gastric obstruction had a better response than those with combined esophagus and gastric stricture. Minor complications such as self-limited pain or bleeding were seen in 18 (16.2â%) and 16 (14.4â%), respectively. Perforation occurred in two patients. Over a follow-up period of 98 months, there were no recurrences. Conclusion Caustic-induced GOO can be successfully managed using EBD with 97.3â% clinical success.
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OBJECTIVE: Assessment of endothelial dysfunction for prediction of gestational hypertension/preeclampsia (GH/PE). METHODS: Serial assessment of flow-mediated vasodilatation (FMD) of brachial artery was done in first, second, and third trimesters, and within 6 weeks of delivery in primigravida (n = 654). Logistic regression was used to assess the predictive value of FMD for the development of GH/PE. RESULTS: Significant fall in FMD was observed from first trimester to third trimester but decrease in FMD in GH/PE group (57%) was more marked as compared to normal (39%) (p < 0.01). FMD (third trimester) was able to predict the development of GH/PE (OR = 1.303; 95% CI 1.088-1.562; p = 0.004). CONCLUSIONS: FMD can be used as a non-invasive marker to predict the development of GH/PE.
Subject(s)
Brachial Artery/physiopathology , Hypertension, Pregnancy-Induced/diagnosis , Pre-Eclampsia/diagnosis , Vasodilation/physiology , Adult , Endothelium, Vascular/physiopathology , Female , Humans , Hypertension, Pregnancy-Induced/physiopathology , Pre-Eclampsia/physiopathology , Predictive Value of Tests , Pregnancy , Young AdultABSTRACT
Split notochord syndrome represents an extremely rare and pleomorphic form of spinal dysraphism characterized by a persistent communication between the endoderm and the ectoderm, resulting in splitting or deviation of the notochord. It manifests as a cleft in the dorsal midline of the body through which intestinal loops are exteriorized and even myelomeningoceles or teratomas may occur at the site. A rare variant was diagnosed on autopsy of a 23+4-week-old fetus showing a similar dorsal enteric fistula and midline protruding intestinal loops in thoracolumbar region. The anteroposterior radiograph showed a complete midline cleft in the vertebral bodies from T11 to L5 region, and a split in the spinal cord was further confirmed by ultrasonography. Myelomeningocele was erroneously reported on antenatal ultrasound. Thus, awareness of this rare anomaly is necessary to thoroughly evaluate the cases of such spinal defects or suspected myelomeningoceles.
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OBJECTIVE: The aim of this study is to detect breast cancer rate, nodal status, tumor size, and associated risk factors using clinical breast examination (CBE) and mammography as screening tools in women aged 40-49 years. MATERIALS AND METHODS: A total of 500 women were screened in a time period of 2 years, between the ages of 40-49 years for breast cancer. Screening tools used were CBE and mammography. Clinical history and risk factors related to breast cancer were recorded. CBE was performed to detect any breast pathology followed by mammographic screening. Breast Imaging Reporting and Data System (BI-RADS) mammographic density categories were used for reporting breast imaging on mammography. For women with dense breasts or an inconclusive mammography report, ultrasonography was performed to assess the lesion/s. Suspicious lesion was subjected to fine-needle aspiration cytology or an open surgical biopsy for a confirmatory diagnosis. Women with history of breast cancer were excluded from the study. RESULTS: CBE was normal in almost 90% of the women. Screening mammography revealed Breast Imaging Reporting and Data System (BI-RADS) I and BI-RADS II in 58.4% and 34.6% of women, respectively. Only 7% of women belonged to BI-RADS III and none in BI-RADS IV category. CONCLUSION: The study findings are in agreement with the recommendations of the World Health Organization, US preventive task force and UK guidelines that recommend screening mammography in women starting at 50 years.
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Blunt diaphragmatic rupture rarely accounts for immediate mortality and may go clinically silent until complications occur which can be life threatening. Although many imaging techniques have proven useful for the diagnosis of blunt diaphragmatic rupture, multidetector CT (MDCT) is considered to be the reference standard for the diagnosis of diaphragmatic injury. Numerous CT signs indicating blunt diaphragmatic rupture have been described in literature with variable significance. Accurate diagnosis depends upon the analysis of all the signs rather than a single sign; however, the presence of blunt diaphragmatic rupture should be considered in the presence of any of the described signs. We present a pictorial review of various CT signs used to diagnose blunt diaphragmatic injury. Multiplanar reconstruction is very useful; however, predominantly axial sections have been described in this pictorial review as the images shown are from dual-slice CT.
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Pancreatic fluid collections (PFCs) are seen in up to 50% of cases of acute pancreatitis. The Revised Atlanta classification categorized these collections on the basis of duration of disease and contents, whether liquid alone or a mixture of fluid and necrotic debris. Management of these different types of collections differs because of the variable quantity of debris; while patients with pseudocysts can be drained by straight-forward stent placement, walled-off necrosis requires multi-disciplinary approach. Differentiating these collections on the basis of clinical severity alone is not reliable, so imaging is primarily performed. Contrast-enhanced computed tomography is the commonly used modality for the diagnosis and assessment of proportion of solid contents in PFCs; however with certain limitations such as use of iodinated contrast material especially in renal failure patients and radiation exposure. Magnetic resonance imaging (MRI) performs better than computed tomography (CT) in characterization of pancreatic/peripancreatic fluid collections especially for quantification of solid debris and fat necrosis (seen as fat density globules), and is an alternative in those situations where CT is contraindicated. Also magnetic resonance cholangiopancreatography is highly sensitive for detecting pancreatic duct disruption and choledocholithiasis. Endoscopic ultrasound is an evolving technique with higher reproducibility for fluid-to-debris component estimation with the added advantage of being a single stage procedure for both diagnosis (solid debris delineation) and management (drainage of collection) in the same sitting. Recently role of diffusion weighted MRI and positron emission tomography/CT with (18)F-FDG labeled autologous leukocytes is also emerging for detection of infection noninvasively. Comparative studies between these imaging modalities are still limited. However we look forward to a time when this gap in literature will be fulfilled.
Subject(s)
Diagnostic Imaging/methods , Pancreas , Pancreatic Cyst/diagnosis , Pancreatitis/diagnosis , Acute Disease , Cholangiopancreatography, Magnetic Resonance , Drainage/instrumentation , Endosonography , Humans , Multimodal Imaging , Necrosis , Pancreas/diagnostic imaging , Pancreas/pathology , Pancreatic Cyst/therapy , Pancreatic Pseudocyst/diagnosis , Pancreatic Pseudocyst/therapy , Pancreatitis/therapy , Positron-Emission Tomography , Predictive Value of Tests , Prognosis , Severity of Illness Index , Stents , Tomography, X-Ray ComputedABSTRACT
The development of the long bones at various gestational ages in the fetus has always been a subject of interest for many clinicians. Some morphometric parameters such as length, etc., are considered standard parameters for evaluation of the gestational age of the fetus. However, not much emphasis is laid upon morphometric parameters to assess the histological changes in these age groups. Therefore, the present study was undertaken to determine the histological changes occurring in a developing bone. 30 fetuses sent to the Dept. of Anatomy for routine fetal autopsy by the Dept. of Obstetrics and Gynaecology were selected for the microscopic study of the femur. Left femora were extracted, and transverse and longitudinal sections were taken and stained with hematoxylin and eosin. The epiphysis of the growing bone exhibited the formation and proliferation of different zones in different age groups. The formation and distribution of distinct cartilage canals has been evidenced as early as 13+2 weeks of gestation in the growing epiphysis. The appearance of a secondary centre of ossification in the distal femoral epiphysis was observed as early as 28+4 weeks. The diaphysis showed the formation of a cancellous bone with increasing trabeculae proliferating more on one side of the shaft. The above observations are discussed in the light of available literature
No disponible
Subject(s)
Humans , Femur/embryology , Cartilage/embryology , Bone Development , Osteogenesis/physiology , Chondrocytes , Epiphyses/embryology , Diaphyses/embryology , Fetus/anatomy & histologyABSTRACT
The aim of this study was to measure the lumbar pedicle dimensions and its angulations for the development of techniques and devices for spinal instrumentation on computed tomography (CT) scan. Fifty CT scans of lumbar vertebral column of patients belonging to North West Indian population was randomly selected. Various morphometric parameters were recorded using software. The transverse pedicle angle increased from L1 to L5 in both males and females. In males it was maximum at L5 (25.7°) and minimum at L1 (7.5°). In females it was maximum at L5 (24.0°) and minimum at L1 (7.4°). The chord length in males was maximum at L5 (51.3 mm) and minimum at L1 (48.1 mm). In female chord length was maximum at L2 (51.1 mm) and minimum at L4 (47.6) on right side and on left side it was maximum at L3 (50.9 mm) and minimum at L1 (46.7 mm). A screw of 40 mm length appeared to be safe at all lumbar levels as all the vertebrae studied had a chord length well in excess of 40 mm. The length of the pedicular screw needs to be substantially smaller for Indian population than those mentioned in Western literature. At the lower lumber levels, greater lateral inclination of the pedicle should be kept in mind. Otherwise it may lead to the breach of the medial cortex of the pedicle with resultant risk to the neural tissues (AU)
No disponible
Subject(s)
Humans , Male , Female , Adult , Lumbar Vertebrae/anatomy & histology , Lumbosacral Region/anatomy & histology , Anatomy, Cross-Sectional/methods , Anatomy, Cross-Sectional/trends , Tomography/instrumentation , TomographyABSTRACT
Better knowledge of unexpected fetal loss is the promise for better parental counseling and for prevention of recurrences. Fetal autopsy can provide a clue to ascertain cause of death in these cases. Variations in the incidence can be attributed to multiple factors. The present study was carried out to help us to develop a database concerning number of autopsies, incidence and types of congenital malformations (CMF) in the North-Western Indian population. The period of study was from January 2010 to November 2011. Autopsy was carried out on 150 fetuses following guidelines provided by a fetal autopsy protocol. Prior to autopsy, prenatal investigations such as ultrasound and radiographs were procured; a brief maternal and family history was noted. Out of a total of 150 autopsies, 87(58%) were induced abortions and 63(42%) spontaneous abortions. In total, the incidence of CMF was 104(69%) of fetal autopsies. The types of CMF were classified as central nervous system defects (CNS) in 49 (33%), gastrointestinal tract (GIT) disorders in 48 (32%), musuculoskeletal (MS) disorders in 31 (21%), genito-urinary (GU) in 25 (17%), and genetic disorders in 12 (8%). Multiple anomalies were present in 40 (27%) fetuses. Anencephaly (meroencephaly) turned out to be the most prevalent anomaly (29%). A few cases showed the occurrence of some uncommon syndromes. Major CMFs manifested very early in intra-uterine life, and could lead to termination of pregnancy (spontaneous or induced) in the 2nd trimester of gestation. Hence the presence of any CMF at the time of birth cannot provide the total percentage of CMF occurring in a given population. The above findings are discussed in the light of the available literature (AU)
No disponible
Subject(s)
Humans , Congenital Abnormalities/epidemiology , Fetal Diseases/genetics , Abnormalities, Multiple/epidemiology , Fetal Death , Autopsy , Abortion, Spontaneous/etiologyABSTRACT
A 13-year old girl presented with a decade long anemia, diffuse alveolar hemorrhage and interstistial lung disease; was eventually diagnosed as ANCA associated vasculitis. High index of suspicion is thus warranted for alternative diagnosis in chronic anemia, despite increased prevalence of infectious diseases and nutritional anemia.
Subject(s)
Anemia/etiology , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/blood , Adolescent , Female , HumansABSTRACT
BACKGROUND: Transpedicular stabilization of subaxial cervical spine is a very delicate procedure that requires thorough understanding of the pedicle anatomy to minimize the rate of neurovascular complications. The current study was conducted to investigate the morphometric details including dimensions and axis of typical cervical vertebrae (C3-C6) for transpedicular screw insertion surgery. METHODS: The current study was conducted on 100 sides of 50 dry and 160 sides of 80 vertebrae on computerized tomography scans of typical cervical vertebrae. Parameters that were studied bilaterally included distance between medial aspect of the pedicle and dural sac, pedicle height, pedicle width, interpedicular distance, lateral and medial cortical thickness, transverse pedicle angle and chord length. RESULTS: Distance between medial aspect of the pedicle and dural sac was found to be 2.2 ± 0.99 mm. Mean pedicle height (6.5 ± 1.1 mm) was found to be greater than pedicle width (4.9 ± 0.9 mm) in all the vertebrae. Mean transverse pedicle angle and chord length was observed to be 39.4° and 32.1 mm, respectively. Mean interpedicular distance, medial and lateral cortical thickness was observed to be 21.8 ± 1.6, 1.43 ± 0.4 and 0.79 ± 0.2 mm, respectively. CONCLUSIONS: The present study highlights a three-dimensional orientation of subaxial cervical pedicle anatomy, while emphasizing the risks involved in the view of comparatively smaller values of pedicle dimensions of subaxial cervical vertebrae. This knowledge about typical cervical vertebrae, its pedicle and their adjacent neurovascular structures may enhance the safety of transpedicular screw insertion.
Subject(s)
Cervical Vertebrae/anatomy & histology , Bone Screws , Cervical Vertebrae/diagnostic imaging , Female , Humans , Male , Orthopedic Procedures , Reference Values , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: Down syndrome (DS) has major resource implications especially in developing countries being third most important cause of mental handicap. Maternal serum screening for chromosomal aneuploidies and neural tube defects (NTDs) is practiced worldwide in many countries and has been integrated into mainstream health care, while it is gradually gaining momentum in Asian countries. METHODS: This prospective cohort study was carried out in pregnant women undergoing triple screening test between January 2007 and December 2010 after informed consent. Biomarkers alpha-fetoprotein, human-chorionic-gonadotropin and unconjugated-estriol were tested, and risk of pregnancy being affected with DS, Edward's syndrome or NTDs were calculated. Screen-positive patients were referred for detailed ultrasonography and confirmatory amniocentesis. Follow-up record was maintained until delivery. RESULTS: Of 7400 pregnant women enrolled, 419(5.7%) were screen-positive, including 339 positive for DS, two for trisomy 18, and 62 for NTDs. Total eight cases of DS were eventually diagnosed in the population (prevalence of DS = 1 : 925), seven of which were detected in utero following diagnostic evaluation for positive serum screen (DR of DS screen = 87.5%). Total five cases of NTD were observed, yielding NTD prevalence of 0.67/1000. CONCLUSIONS: Triple screening in the second trimester is reasonably effective for the detection of major chromosomal defects and NTDs, and can be implemented successfully also in India.