Abstract:
:The findings of hyperechoic and enlarged fetal kidneys on routine antenatal ultrasonography is a non-specific finding that alerts the physician to a differential diagnosis of various genetic and non-genetic disorders, including fetal polycystic disease and Beckwith-Wiedeman syndrome. Detection of fetal or neonatal polycystic kidneys should alert the physician to the possibility of an associated lethal autosomal recessive inborn error of fatty acid metabolism known as multiple acyl-CoA-dehydrogenase defect (MADD). We report a case of fetal nephromegaly associated with rare inborn error of MADD. This case highlights the need for appropriate laboratory investigation of hyperechoic, enlarged fetal kidneys, and neonatal polycystic disease. The association of MADD with postnatally diagnosed polycystic disease of the kidney has been reported. The antenatal detection of nephromegaly followed by the subsequent postnatal diagnosis of MADD has not been previously reported. MADD should be considered in the differential diagnosis of this antenatal finding. Appropriate diagnostic procedures should be conducted, either pre- or postnatally, in order that appropriate genetic counseling may be provided for this autosomal recessively inherited disorder.
journal_name
Am J Perinatoljournal_title
American journal of perinatologyauthors
Whitfield J,Hurst D,Bennett MJ,Sherwood WG,Hogg R,Gonsoulin Wdoi
10.1055/s-2007-994309subject
Has Abstractpub_date
1996-04-01 00:00:00pages
131-4issue
3eissn
0735-1631issn
1098-8785journal_volume
13pub_type
杂志文章abstract::We tabulated the incidence of necrotizing enterocolitis (NEC) during a recent 4-year period among three neonatal intensive care units (NICUs) within a single health-care system. We then sought associations to explain differences in NEC incidence between the centers. Between January 1, 2002, and December 31, 2005, 6787...
journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究
doi:10.1055/s-2007-995220
更新日期:2008-01-01 00:00:00
abstract::A randomized clinical trial (RCT) noted that sonographic examination in the third trimester, in conjunction with delivery at term for abnormalities of fetal growth, significantly decreased the likelihood of small-for-gestational-age (SGA) neonates in uncomplicated pregnancies. We identified 15 characteristics of scree...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0032-1321497
更新日期:2013-01-01 00:00:00
abstract::Caffeine is commonly used in the treatment of apnea of prematurity. The skin of preterm infants varies considerably in its level of maturity. To understand skin absorption in low birthweight infants (less than 1500 gm) with gestational age between 26 and 34 weeks, a group of 56 preterm babies was studied after percuta...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999282
更新日期:1992-09-01 00:00:00
abstract::Placental pathology in preeclampsia (PE) and intrauterine growth retardation (IUGR) is associated with alterations of the placental epidermal growth factor receptor (EGFR). It is encoded by a single gene, which gives rise to two different full-length transcripts and one putative truncated transcript in the placenta. T...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-993890
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:To analyze outcomes after second-stage labor beyond 3 hours and determine if prolonged second stages were intentional. STUDY DESIGN:Retrospective cohort analysis of maternal and neonatal outcomes in nulliparous women based on second-stage duration. Medical records were reviewed for management decisions in wo...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0032-1314894
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:This study aimed to investigate factors that influence growth in infants with gastroschisis. STUDY DESIGN:Growth parameters at birth, discharge, 6, 12, and 18 months of age were collected from 42 infants with gastroschisis. RESULTS:The mean z-scores for weight, length, and head circumference were below norm...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0039-1693988
更新日期:2020-12-01 00:00:00
abstract::The aim of this study was to compare the pregnancy outcome and delivery complications in women 40 years or older (cases) to that of women 20 to 30 years old (controls). Over a 5-year period, 319 cases had a singleton delivery in our institution. These women were compared with 326 controls. Parity was significantly hig...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2002-20175
更新日期:2002-01-01 00:00:00
abstract::We studied the relationships between fetal hemoglobin concentration, acid base status, and lactate concentration in umbilical venous and fetal heart blood in 157 fetuses affected by blood group incompatibility who had been exposed for 214 fetal blood sampling procedures (cordocentesis in 153 and intracardiac puncture ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994524
更新日期:1994-01-01 00:00:00
abstract::There were 107 episodes of pyelonephritis associated with pregnancy or the early puerperium occurring in 103 gravidas investigated retrospectively for information concerning prematurity, low birthweight, and antibiotic susceptibility patterns in the recovered microorganisms. No difference was found in the incidence of...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999800
更新日期:1987-10-01 00:00:00
abstract::Anti-Cw is an uncommon cause of clinically significant hemolytic disease of the newborn (HDN). We report an unusually severe case of HDN due to anti-Cw that required phototherapy and exchange transfusion. We also describe a novel PCR-RFLP method for Cw typing of fetal genomic DNA that was used for prenatal diagnosis i...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-993872
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE: This study aimed to identify differences in sequential integrated screening and early ultrasound markers in monochorionic/diamniotic (MC/DA) pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) and unequal placental sharing (UPS). STUDY DESIGN: Retrospective cohort study of MC/DA pregnancies ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0040-1718371
更新日期:2020-10-08 00:00:00
abstract::Pulmonary hypoplasia is lethal in its most severe form; in less severe cases the clinical course is protracted, usually resulting in chronic lung disease. A case of unexpected survival of an infant with clinical and radiologic evidence of pulmonary hypoplasia, in whom dexamethasone was administered, is presented. Poss...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999375
更新日期:1991-05-01 00:00:00
abstract::We report a case that presents clear evidence of an intrauterine infection of twin fetuses with an enterovirus. The mother had signs and symptoms of chorioamniotitis at 34 weeks' gestation. Coxsackie virus, group B type 1 (CVB1), was cultured from amniotic fluid obtained by transabdominal amniocentesis when the membra...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994407
更新日期:1995-03-01 00:00:00
abstract::The aim of the study was to investigate the effect of individual room care in the neonatal intensive care unit (NICU) on the factors that influence mother-preterm infant interaction. Mothers in group I had hospitalization with their preterm infants in an individual room in the NICU. Mothers in group II were not hospit...
journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究
doi:10.1055/s-0028-1095186
更新日期:2009-02-01 00:00:00
abstract::Our purpose was to evaluate the impact of intravenous and oral tocolysis on prolongation of gestation for women with preterm uterine contractions and/or labor. Candidates for evaluation and treatment including women with contractions between 24 and 35 weeks. Two hundred women (group I) without cervical changes met the...
journal_title:American journal of perinatology
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-994169
更新日期:1997-08-01 00:00:00
abstract::The aim of this study was to determine the relationship between maternal serum homocysteine levels in preeclampsia and the severity of the disease, neonatal serum homocysteine levels, maternal complications, and fetal outcome. Fifty pregnant women were included in this prospective study, of which 25 were severe (group...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2005-918889
更新日期:2006-01-01 00:00:00
abstract::Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusio...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2004-835314
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:We aim to quantify the impact of obesity on maternal intensive care unit (ICU) admission. MATERIALS AND METHODS:This is a population-based, retrospective cohort study of Ohio live births from 2006 to 2012. The primary outcome was maternal ICU admission. The primary exposure was maternal body mass index (BMI)...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1660460
更新日期:2018-12-01 00:00:00
abstract::Aplasia cutis congenita (ACC) is the clinical manifestation of an uncommon group of skin disorders. One postulated etiology is disseminated intravascular coagulation from release of thrombogenic maternal arising from placental injury or fetal demise. This leads to disruption of the ectodermal blood supply responsible ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-1999-7279
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of pretreatment with obestatin (OB), an endogenous hormone also found in mother's milk, in experimental necrotizing enterocolitis (NEC). STUDY DESIGN:Pups were randomized into four groups: control, OB-control, NEC, and OB-NEC. NEC was induced by asphyxia and hypothermia in the NEC a...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1676491
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:The management of breech presentation may improve perinatal outcomes. The aim of this study was to synthesize and compare published evidence of four national guidelines on breech presentation. STUDY DESIGN:A descriptive review of four recently published national guidelines on breech presentation and external...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0039-1692391
更新日期:2020-09-01 00:00:00
abstract::Prematurity, the major cause of perinatal morbidity and mortality, results from a multifactorial interaction of medical, historic, and psychosocial conditions. Although the literature contains several reports of prematurity risk-scoring systems, the relative importance of specific risk factors may depend on the popula...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999893
更新日期:1986-10-01 00:00:00
abstract::This study was undertaken to evaluate the effect of maternal intravenous (IV) administration of glucose on fetal breathing and its associated fetal heart patterns. Sixteen healthy women at term gestation participated in the study. The outcome of each of the pregnancies was normal. Fetal breathing and fetal electrocard...
journal_title:American journal of perinatology
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-999973
更新日期:1985-10-01 00:00:00
abstract::Objectives This study aims to examine the relationship between hospital birth volume and multiple maternal morbidities among low-risk pregnancies in rural hospitals, urban non-teaching hospitals, and urban teaching hospitals, using a representative sample of U.S. hospitals. Study Design Using the 2011 Nationwide Inpat...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0035-1570380
更新日期:2016-05-01 00:00:00
abstract::The manifestations of fetal varicella syndrome usually involve several organ systems, including skin, ocular, neurologic, gastrointestinal, and genitourinary. Although ocular anomalies have been reported to be as high as 68%, manifestations limited to the eyes is extremely rare. Herein we report the case of fetal vari...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994493
更新日期:1995-09-01 00:00:00
abstract::Phototherapy is one of the most common therapeutic interventions in modern neonatal medicine. Analysis of physiological responses to phototherapy requires understanding the physical effects of incident light under different modes of environmental control. In this study, we tested the effect of initiation of photothera...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994402
更新日期:1995-01-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy of similar buccal and vaginal misoprostol doses for induction of labor. STUDY DESIGN:Retrospective chart review of 207 consecutive women undergoing term induction of labor with misoprostol. Misoprostol route and dosing were collected. Time to delivery and other labor outcomes (e.g., v...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1675219
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Postpartum higher-dose oxytocin (80 U) compared with lower dose (10 U) given in 500 mL over 1 hour does not decrease postpartum hemorrhage (PPH) requiring treatment, but reduces the risk of hematocrit decline ≥ 6% among women delivering vaginally. Our objective was to evaluate whether the duration of administ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0034-1370347
更新日期:2014-11-01 00:00:00
abstract::Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesi...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0029-1220777
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:To review developmental outcomes of neonates with mild hypoxic-ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH). STUDY DESIGN:Neonates ≥35 weeks' gestation with mild HIE/TH (TH group, n = 30) were matched with healthy term-born infants (control group, n = 30) and reviewed for the prese...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1676973
更新日期:2019-11-01 00:00:00