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"Lethal anomalies"

Xuan-Hong Tomai, Thanh-Xuan Jasmine, Thanh-Hai Phan
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype...
May 2017: Ultrasound: Journal of the British Medical Ultrasound Society
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
Patricia Bellows, Utsavi Shah, Lauren Hawley, Kathleen Drexler, Manisha Gandhi, Haleh Sangi-Haghpeykar, Christina Davidson
OBJECTIVE: To evaluate maternal-neonatal morbidity for women undergoing trial of labor after cesarean (TOLAC) following clinical practice changes based upon ACOG's 2010 VBAC guideline. STUDY DESIGN: Four-year retrospective cohort analysis around implementation of a hospital guideline in women undergoing TOLAC with a live, cephalic, singleton without lethal anomaly ≥24 weeks and ≥1 prior cesarean. Maternal-neonatal outcomes pre- and post-guideline implementation were compared...
September 2017: Journal of Maternal-fetal & Neonatal Medicine
A V Desai, Sudha Rao, P R Shanbhag, M Rupani
Tracheal agenesis is an extremely rare congenital anomaly involving the respiratory system. It is generally associated with anomalies of other systems. Antenatal diagnosis of this condition is difficult; therefore, it presents as a medical emergency in the labor room. Intubation in these babies is difficult. As many of these babies are born prematurely, respiratory distress syndrome (RDS) adds to the management difficulties. Here, we describe two babies with this lethal anomaly and RDS where esophageal intubation and surfactant therapy proved beneficial...
July 2016: Journal of Postgraduate Medicine
André Kidszun, Jennifer Linebarger, Jennifer K Walter, Norbert W Paul, Anja Fruth, Eva Mildenberger, John D Lantos
Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant's symptoms may be less severe or more severe than anticipated based on prenatal assessment...
May 2016: Pediatrics
David W Kays, James L Talbert, Saleem Islam, Shawn D Larson, Janice A Taylor, Joy Perkins
BACKGROUND: Delayed repair of congenital diaphragmatic hernia (CDH) for days or longer has become standard, allowing improved stabilization for many, but potentially complicating treatment in severely affected infants who require extracorporeal membrane oxygenation (ECMO) and arrive unrepaired. Survival in left liver-up CDH, the most severe anatomic subset, averages 45% in published studies, with deaths often occurring in patients who failed to improve on ECMO and are repaired late, or not at all...
April 2016: Journal of the American College of Surgeons
Kristen Kelley, Kristen O'Dillon Goerg, Jessica Rhinehart-Ventura, Catherine Eppes, Haleh Sangi-Haghpeykar, Christina Davidson
OBJECTIVES: To assess short-term neonatal respiratory morbidity from inductions of labor (IOL) in well-dated (WD) pregnancies (dating ultrasound [US] <20 0/7 weeks) versus non-well-dated (NWD) pregnancies when applying National Institutes of Health/Society for Maternal-Fetal Medicine/American College of Obstetricians and Gynecologists delivery recommendations at ≥34 0/7 weeks. METHODS: Ours was a 1-year retrospective cohort of women with medically indicated IOL between 34 0/7 and 40 6/7 weeks with a live, cephalic, singleton gestation and no lethal anomaly...
March 2016: Southern Medical Journal
Rosemarie Anne Boland, Peter Graham Davis, Jennifer Anne Dawson, Lex William Doyle
BACKGROUND: Parent counselling and decision-making regarding the management of preterm labour and birth are influenced by information provided by healthcare professionals regarding potential infant outcomes. AIM: The aim of this study was to determine whether perinatal healthcare providers had accurate perceptions of survival and major neurosensory disability rates of very preterm infants born in non-tertiary hospitals ('outborn') and tertiary perinatal centres ('inborn')...
June 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
Natasha L Swier, Bernadette Richards, Clifford L Cua, Susan K Lynch, Han Yin, Leif D Nelin, Charles V Smith, Carl H Backes
Objectives Pulmonary vein stenosis (PVS) is a rare, often lethal anomaly associated with poor outcomes. Given the association between bronchopulmonary dysplasia (BPD) and cardiovascular complications, we tested the hypotheses that (1) a subgroup of neonates with severe BPD develop PVS (BPD-PVS) and have worse outcomes than do neonates with severe BPD alone (BPD); (2) among a cohort of neonates with severe BPD-associated pulmonary hypertension (BPD-PH), PVS is an additional risk factor for adverse outcomes and mortality...
June 2016: American Journal of Perinatology
Ayla Buyukkaya, Guven Tekbas, Ramazan Buyukkaya
Twin reversed arterial perfusion (TRAP) sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence...
July 2015: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
Enrico Danzer, Nina H Thomas, Allison Thomas, Karen B Friedman, Marsha Gerdes, Jamie Koh, N Scott Adzick, Mark P Johnson
BACKGROUND: Myelomeningocele (MMC) represents the first nonlethal anomaly to be treated by prenatal intervention. Case series and a prospective, randomized study show that fetal surgery for MMC before 26 weeks' gestation may preserve neurological function. Long-term follow-up is a fundamental component to evaluate the overall efficacy of any new medical or surgical procedure. To further delineate the long-term impact of fMMC surgery, we continued to follow children treated in our institution before the Management of Myelomeningocele Study trial by the means of parental questionnaires to assess changes in functional, developmental, and cognitive status as these unique patients grow older...
February 2016: American Journal of Obstetrics and Gynecology
David W Kays, Saleem Islam, Joy M Perkins, Shawn D Larson, Janice A Taylor, James L Talbert
PURPOSE: Centers that care for newborns with congenital diaphragmatic hernia (CDH) may impose selection criteria for offering or limiting aggressive support in those patients most severely affected. The purpose of this study was to analyze outcomes in newborns with highly severe CDH uniformly treated for survival. METHODS: We reviewed 172 consecutive inborn patients without associated lethal anomalies treated at a single institution with a dedicated CDH program...
June 2015: Journal of Pediatric Surgery
Deborah A Bruns
Trisomy 18 and trisomy 13 are conditions often referred to as "incompatible with life" or "lethal anomalies." If there is long-term survival, the outlook is considered "grim." Developmental status is presumed to be minimal. Yet, Baty et al. [1994; 49:189-194] described a variety of developmental skills in their sample. An additional 22 children with trisomy 18 and eight with trisomy 13 are described here. A range of developmental skills is noted with strengths in the language and communication, gross and fine motor and social-emotional domains including indicating preferences, exploration of objects and a range of voluntary mobility...
August 2015: American Journal of Medical Genetics. Part A
Christine L Roberts, Charles S Algert, Tanya A Nippita, Jennifer R Bowen, Antonia W Shand
OBJECTIVE: To examine short-term and longer-term outcomes for twins born at or near term, comparing prelabor cesarean delivery with birth after a trial of labor. METHODS: This study was conducted on a retrospective cohort of twin pregnancies delivered at 36 weeks of gestation or greater from 2000 to 2009. Pregnancies with an antenatal death, lethal anomaly, birth weight discordance 25% or more, or birth weight less than 2,000 g or more than 4,000 g were excluded...
January 2015: Obstetrics and Gynecology
Adam R Jacobs, Gillian Dean, Erika J Wasenda, Lauren M Porsch, Erin L Moshier, David A Luthy, Maureen E Paul
OBJECTIVE: The objective was to ascertain the practices and opinions of US maternal-fetal medicine specialists regarding termination of pregnancy as a management option following late diagnosis of lethal fetal anomalies. STUDY DESIGN: We conducted a cross-sectional mail survey of all US members of the Society of Maternal Fetal Medicine to ascertain how they manage pregnancies diagnosed with lethal fetal anomalies after 24 weeks of gestation. We analyzed the proportion of respondents that discuss termination of pregnancy as a management option, barriers to offering or accessing late termination services, and respondents' opinions about what anomalies are lethal and when pregnancy termination should be permitted...
January 2015: Contraception
Vitaya Titapant, Prakong Chuenwattana
AIM: The aim of this study was to explore the effects of prenatal fetal diagnoses of non-lethal anomalies on the psychological well-being of pregnant women throughout their pregnancy. MATERIALS AND METHODS: Fifty-five pregnant women were asked to complete a questionnaire (the Spielberger State-Trait Anxiety Inventory) to assess their anxiety levels at multiple follow-up visits. In-depth interviews were conducted with 20 pregnant women after completion of the questionnaire...
January 2015: Journal of Obstetrics and Gynaecology Research
Bryann Bromley, Thomas D Shipp, Jennifer Lyons, Reshama S Navathe, Yvette Groszmann, Beryl R Benacerraf
OBJECTIVES: The purpose of this study was to determine whether first-trimester aneuploidy screening sonography initially performed by credentialed sonographers was useful for detecting fetal anomalies between 11 and 14 weeks' gestation. METHODS: We conducted a retrospective cohort study of consecutive patients referred to a private ultrasound facility between January 1, 2008, and June 30, 2012, for measurement of the nuchal translucency (NT) and crown-rump length as part of a screening protocol for aneuploidy...
October 2014: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Omer L Tapisiz, Hakan Aytan, Sadiman Kiykac Altinbas, Feyza Arman, Gorkem Tuncay, Mustafa Besli, Leyla Mollamahmutoglu, Nuri Danışman
AIM: To determine factors associated with face presentation of term fetuses delivered. METHODS: Of 34,480 consecutive, term deliveries of uncomplicated pregnancies within a 3-year period, all live, singleton term fetuses with cephalic presentation in which no lethal anomalies occurred that were diagnosed with a face presentation were studied. Factors that may have contributed to the etiology of the presentation including age, parity and fetal size were evaluated...
June 2014: Journal of Obstetrics and Gynaecology Research
Irving J Zamora, Fariha Sheikh, Oluyinka O Olutoye, Christopher I Cassady, Timothy C Lee, Rodrigo Ruano, Darrell L Cass
PURPOSE: The purpose of this study was to review the unique imaging characteristics, prenatal course, and outcomes for fetuses with mainstem bronchial atresia (MBA). METHODS: The records of all patients referred for a fetal lung malformation from 2001 to 2012 and the medical literature were reviewed to identify cases of MBA. RESULTS: Of 129 fetuses evaluated, 3 were diagnosed prenatally with right-sided MBA. The first had a CCAM-volume ratio (CVR) of 9, hydrops, mirror syndrome, and preterm delivery of a nonviable fetus...
May 2014: Journal of Pediatric Surgery
Mert Turğal, Ozgür Ozyüncü, Aslıhan Yazıcıoğlu, Lütfü Sabri Onderoğlu
Amniotic band syndrome is a rare disorder which is thought to be caused by early rupture of the amniotic membrane. The extent of the disease may vary from minor digital amputations to severe lethal anomalies. For many years in routine clinical practice, this syndrome has been diagnosed with two-dimensional ultrasonography. Evolving imaging techniques by means of three-dimensional ultrasonography gives the chance of early and accurate diagnosis of this devastating anomaly. By integrating three-dimensional ultrasonography to the suspected findings diagnosed in the two-dimensional ultrasonography allows us to predict possible outcomes and provides convenience in counselling...
2014: Journal of the Turkish German Gynecological Association
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