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congential anomaly

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https://www.readbyqxmd.com/read/28869276/amniocentesis-and-chorionic-villus-sampling-for-prenatal-diagnosis
#1
REVIEW
Zarko Alfirevic, Kate Navaratnam, Faris Mujezinovic
BACKGROUND: During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood. A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Earlier alternatives are chorionic villus sampling (CVS) and early amniocentesis, which can be performed in the first trimester of pregnancy. OBJECTIVES: The objective of this review was to compare the safety and accuracy of all types of AC (i...
September 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28390414/factors-associated-with-recovery-from-1%C3%A2-minute-apgar-score-4-in-live-singleton-term-births-an-analysis-of-malaysian-national-obstetrics-registry-data-2010-2012
#2
Ravichandran Jeganathan, Shamala D Karalasingam, Julia Hussein, Pascale Allotey, Daniel D Reidpath
BACKGROUND: The neonatal Apgar score at 5 min has been found to be a better predictor of outcomes than the Apgar score at 1 min. A baby, however, must pass through the first minute of life to reach the fifth. There has been no research looking at predictors of recovery (Apgar scores ≥7) by 5 min in neonates with 1 min Apgar scores <4. METHODS: An analysis of observational data was conducted using live, singleton, term births recorded in the Malaysian National Obstetrics Registry between 2010 and 2012...
April 8, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27433255/ultrasound-diagnosis-of-bilateral-cataracts-in-a-fetus-with-possible-cerebro-ocular-congential-muscular-dystrophy-during-the-routine-second-trimester-anomaly-scan
#3
Alexandra Drought, Ruwan Wimalasundera, Susan Holder
The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle-Eye Brain disease or Walker-Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies...
August 2015: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/25878418/primary-squamous-cell-carcinoma-of-bladder-exstrophy-in-an-adult
#4
Suresh Bhat, Manjunatha Sathyanarayanaprasad, Fredrick Paul
Exstrophy of the urinary bladder is a rare congential anomaly. The most common malignancy is an adenocarcinoma in these patients. Squamous cell carcinoma (SCC) occurring in these patients is uncommon and usually has a bad prognosis. The management of these patients is challenging and may require extensive reconstructive procedures. We report a case of SCC in a corrected bladder exstrophy patient who presented with an ulcerated mass in the lower abdomen extending to the base of the penis. Six months after extensive radical ablative surgery with reconstruction of the abdominal wall, the patient remained free of recurrence...
April 2015: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/25526433/scoliosis-in-herlyn-werner-wunderlich-syndrome-a-case-report-and-literature-review
#5
REVIEW
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
Herlyn-Werner-Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unreported scoliosis in HWWS is described. The patient is a 12-year-old Chinese female with scoliosis that underwent a posterior correction at thoracic 5-thoracic 12 (T5-T12) levels, using the Moss-SI (Johnson & Johnson, American) spinal system...
December 2014: Medicine (Baltimore)
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