Spectrum of fetal limb anomalies.

PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. RESULTS: 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. CONCLUSION: Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.

Living with Amputation: Anxiety and Depression Correlates.

INTRODUCTION: Trauma accounts for 16% of the total burden of disease in the world, making it a leading cause of morbidity and mortality especially in the developing nations. India represents about 10% (225million) of the total world workforce in agriculture. With the evolution of new machinery and better techniques of agriculture, there has been a substantial increase in the associated injuries. Depression, anxiety and post-traumatic stress are among the predictors of poor quality of life (QOL). AIM: This study was aimed to assess and correlate of traumatic amputation on the patient's mental health in the Northern Indian rural setting. MATERIALS AND METHODS: This cross-sectional study included subjects who had undergone traumatic amputations. A pre-tested, semi-structured questionnaire was administered to each study participant after an informed verbal consent. The questionnaire had two parts. The first part gathered socio-personal and the disability related information from the patient and the second part included a Hospital Anxiety and Depression Scale (HADS). RESULTS: The mean anxiety and depression scores were 9.10±5.7 and 3.44±3.42, respectively. The length of original inpatient stay, people at hand for help, number of hospitalizations, number of follow ups per year, type of family (nuclear versus joint), pain perception, optimism, rehabilitation satisfaction and lower limb amputations correlated significantly with anxiety levels in the patients. The depression levels correlated significantly only with perception of pain. CONCLUSION: The amputees have a large number of psychosocial concerns which need to be addressed to provide a holistic care and a better QOL. It is essential to sensitize the community, the health care providers and the patient's family to the additional psychosocial needs of the amputee.

Revised guidelines on management of antenatal hydronephrosis.

Widespread antenatal screening has resulted in increased detection of anomalies of the kidneys and urinary tract. The present guidelines update the recommendations published in 2000. Antenatal hydronephrosis (ANH) is transient and resolves by the third trimester in almost one-half cases. The presence of oligohydramnios and additional renal or extrarenal anomalies suggests significant pathology. All patients with ANH should undergo postnatal ultrasonography; the intensity of subsequent evaluation depends on anteroposterior diameter (APD) of the renal pelvis and/or Society for Fetal Urology (SFU) grading. Patients with postnatal APD exceeding 10 mm and/or SFU grade 3-4 should be screened for upper or lower urinary tract obstruction and vesicoureteric reflux. Infants with vesicoureteric reflux should receive antibiotic prophylaxis through the first year of life, and their parents counseled regarding the risk of urinary tract infections. The management of patients with pelviureteric junction or vesicoureteric junction obstruction depends on clinical features and results of sequential ultrasonography and radionuclide renography. Surgery is considered in patients with increasing renal pelvic APD and/or an obstructed renogram with differential renal function <35-40% or its subsequent decline. Further studies are necessary to clarify the role of prenatal intervention, frequency of follow up investigations and indications for surgery in these patients.