Abstract:
:Carbamoyl phosphate synthetase deficiency is a type of an inborn error of metabolism with a poor prognosis. Carbamoyl phosphate synthetase is a liver-specific enzyme, and its deficiency can only be diagnosed by enzyme assay using liver biopsy specimens. A pregnant woman at risk for carbamoyl phosphate synthetase deficiency was evaluated for the purpose of prenatal diagnosis of the condition. Fetal liver biopsy was performed at the 22nd week of gestation. The results of enzyme assays on fetal liver biopsy revealed normal enzymatic activity and the diagnosis of carbamoyl phosphate synthetase deficiency was ruled out prenatally. Methods and safety of fetal liver biopsy are discussed. Measurements of activity of liver-specific enzymes were evaluated with respect to methodology and manner of assessment. Prenatal diagnosis of deficiencies in liver-specific enzymes, which have hitherto been considered difficult to detect before birth, has now become possible.
journal_name
Am J Perinatoljournal_title
American journal of perinatologyauthors
Murotsuki J,Uehara S,Okamura K,Yajima A,Oura T,Miyabayashi Sdoi
10.1055/s-2007-994579subject
Has Abstractpub_date
1994-03-01 00:00:00pages
160-2issue
2eissn
0735-1631issn
1098-8785journal_volume
11pub_type
杂志文章,评审abstract:OBJECTIVE:The aim of this study was to evaluate obstetric outcomes in relation to the extent of donor sperm exposure with and without egg donation. MATERIALS AND METHODS:This is a retrospective cohort study in a single tertiary care center. All women with a singleton pregnancy who conceived following sperm donation (S...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1667029
更新日期:2019-01-01 00:00:00
abstract::The objective of this article is to prospectively investigate the efficacy of amnioinfusion as a means to reduce febrile morbidity in pregnancies complicated by chorioamnionitis. All laboring patients with a temperature > or =100.1 degrees F were approached for study participation. Exclusion criteria included amnionit...
journal_title:American journal of perinatology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2007-994085
更新日期:1998-01-01 00:00:00
abstract::Introduction Bronchopulmonary dysplasia (BPD) is a frequent, long-term complication in very low-birth-weight (VLBW) newborns. Its etiology is multifactorial and the oxidative stress is one of its main causes. Breast milk (BM) reduces oxidative stress and provides antioxidant protection, therefore, BM may have a protec...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0036-1586503
更新日期:2017-02-01 00:00:00
abstract::Two cases of inadvertent third trimester amniocenteses occurring during attempted spinal tap and culdocentesis are presented. These hitherto undescribed occurrences stress potential complications of these invasive diagnostic procedures in the gravid woman. ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994618
更新日期:1993-11-01 00:00:00
abstract::We determined the glycemic response to intravenous lipid infusion alone, lipid with amino acids, or amino acids alone in 15 very small premature infants receiving constant glucose infusion during early life. Infants who received lipid or lipid and amino acids demonstrated significant increases in glucose compared with...
journal_title:American journal of perinatology
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-999685
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVE: The study aims to assess the impact on neurodevelopmental outcomes of a prolonged hemodynamically significant patent ductus arteriosus (PDA) after a conservative treatment. STUDY DESIGN: This involves the study of two cohorts of preterm infants 23 to 29 weeks gestation, before (n = 29) and after (n = 54) a ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0039-1697674
更新日期:2019-10-10 00:00:00
abstract::We sought to identify prenatal predictive factors for perinatal outcome and to estimate fetal hemoglobin (Hb) levels in large fetomaternal hemorrhages (transfused blood volume [TBV] > 20 mL) by performing a case-series study ( N = 32). Perinatal outcome was favorable (F group, N = 22) and poor (P group, N = 10: four f...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0028-1103150
更新日期:2009-03-01 00:00:00
abstract::Endotracheal instillation and subsequent suctioning produces fluctuations of intracranial pressure (ICP), mean arterial pressure (MAP), and cerebral perfusion pressure (CPP) in sick preterm infants. In an attempt to observe if these fluctuations could be minimized using sedation, we studied a group of seven sick mecha...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999841
更新日期:1986-04-01 00:00:00
abstract::Four hundred sixty-four fetuses underwent real time ultrasound examination within 72 hours before birth to evaluate other factors than the weight formula itself that might influence the accuracy of ultrasound weight estimation. The results indicated that fetal sex had no effect on weight estimation accuracy, but that ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999866
更新日期:1986-07-01 00:00:00
abstract::In the present study we examined whether the vitamin D3 metabolites, 25-hydroxyvitamin D and 1-25-dihydroxycholecalciferol affected the production of the prostaglandins PGE2 and PGF2 alpha in human fetal membranes and placenta in vitro. Human amnion, chorion, decidual, and placental cells were maintained in primary mo...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999564
更新日期:1989-04-01 00:00:00
abstract::Molecular amplification of parvovirus B19 DNA in an amniotic fluid sample was used to confirm the etiologic agent of a case with fetal hydrops. The polymerase chain reaction (PCR) method used is easy and fast to perform. We have a 2-year experience on its use in clinical parvovirus B19 diagnosis. The results are avail...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994518
更新日期:1995-11-01 00:00:00
abstract::A retrospective review of placental materials (membranes, chorionic plate, umbilical cord) derived from preterm birth is reported. All those studied had intact membranes on admission and did not have spontaneous rupture. Those with preterm labor unresponsive to tocolysis, including those with brief and more prolonged ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999710
更新日期:1988-07-01 00:00:00
abstract::We report a case with spontaneous rupture of the renal pelvis during pregnancy. A 34-year-old Japanese woman was referred at 20 weeks' gestation because of sudden severe right flank pain. She had severe colic pain radiating to the right lower abdomen with percussion tenderness at the right costovertebral angle and was...
journal_title:American journal of perinatology
pub_type: 杂志文章,评审
doi:10.1055/s-2002-28489
更新日期:2002-05-01 00:00:00
abstract::Cord blood gas determinations were made on arterial and venous blood from 78 babies weighing less than 2000 gm at birth, including 52 weighing 1500 gm or less. Correlations were made with Apgar scores and intrapartum events as well as with birthweight (BW) and gestational age (GA). Significant differences were seen be...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999925
更新日期:1985-04-01 00:00:00
abstract::Objective There is limited data regarding the use of oral hypoglycemic agents (OHAs) in pregnant women with type 2 diabetes mellitus (T2DM). Study Design This was a retrospective cohort study of women with T2DM who were treated with OHA or insulin from the first trimester onward. Bivariate and multivariate logistic re...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0036-1597625
更新日期:2017-06-01 00:00:00
abstract::Progress in neonatal care has decrease morbidity and mortality due to neonatal sepsis (NS). Although diagnosis of sepsis continues to rely on blood culture, this method is too slow and limited by false-negative results. There are numerous sepsis biomarkers that have been evaluated for the early diagnosis of NS, but, t...
journal_title:American journal of perinatology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1639361
更新日期:2018-05-01 00:00:00
abstract::Infants of diabetic mothers (IDMs) are at known risk for developing a hypertrophic type of cardiomyopathy. The severity of IDM cardiomyopathy can vary from an incidental finding on echocardiography to an infant with severe symptoms of congestive heart failure. The purpose of this article is to review the pathophysiolo...
journal_title:American journal of perinatology
pub_type: 杂志文章,评审
doi:10.1055/s-2007-999722
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVE:To quantify the potential cost savings if azithromycin is substituted for erythromycin in women with preterm premature rupture of membranes (PPROM). STUDY DESIGN:Secondary analysis of a multicentered study investigating magnesium sulfate for the prevention of cerebral palsy in premature infants. All patients...
journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1055/s-0038-1667369
更新日期:2019-01-01 00:00:00
abstract::The purpose of this study was to compare the AmniSure rapid immunoassay with standard methods for diagnosing rupture of fetal membranes. Patients presenting with signs/symptoms of membrane rupture between 15 and 42 weeks of gestation were invited to participate. Standard/control methods were performed to establish a d...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2005-870896
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:Securing an arterial line to monitor continuous blood pressure (BP) is difficult in infants. We aimed to reveal the extent of discrepancies between oscillometric and direct BP. STUDY DESIGN:Infants who required continuous BP monitoring were prospectively enrolled. Direct and indirect BP were simultaneously r...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0034-1383851
更新日期:2015-02-01 00:00:00
abstract::Elevated serum transaminase levels can have many different etiologies, especially in the pregnant patient. Hypoxic hepatitis is a distinct syndrome caused by decreased hepatic blood flow that presents with a marked, but transient, increase in liver enzymes. A 28-year-old woman, gravida 3, para 2 with history of gastri...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0028-1085065
更新日期:2008-09-01 00:00:00
abstract::We evaluated the clinical significance of late decelerations (LD) of intrapartum fetal heart rate (FHR) monitoring to detect low pH (< 7.1) in low-risk pregnancies. We selected two secondary and two tertiary-level institutions where 10,030 women delivered. Among them, 5522 were low-risk pregnancies. The last 2 hours o...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2004-837272
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:Adding azithromycin to standard antibiotic prophylaxis for unscheduled cesarean delivery has been shown to reduce postcesarean infections. Because wound infection with ureaplasmas may not be overtly purulent, we assessed the hypothesis that azithromycin-based extended-spectrum antibiotic prophylaxis also redu...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0039-1679914
更新日期:2019-07-01 00:00:00
abstract::Four cases of transient polyhydramnios are reviewed. It is proposed that by taking note of changes in amniotic fluid volume, one can more accurately assess a fetal-maternal unit that is affected by a number of specific disease processes. ...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999656
更新日期:1988-01-01 00:00:00
abstract::Myocardial infarction in association with pregnancy in patients with the antiphospholipid syndrome has been reported once previously. Our patient, a 22-year-old multiparous woman, experienced a myocardial infarction in the postpartum period. She fulfilled the criteria for the diagnosis of the antiphospholipid syndrome...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994522
更新日期:1994-01-01 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::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::Presented are three cases of fetal death, all of which occurred within 3 days of a normal biophysical profile. Despite the excellent record of this antepartum test in predicting fetal well-being, there is a low incidence of false-negative tests; increasing the frequency of testing will not prevent all false-negative t...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999352
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVE: Transient tachypnoea of the newborn (TTN) is one of the most common causes of neonatal respiratory distress (RD) during the newborn period. Chest radiography (CXR) is commonly used to rule out the diagnosis, but TTN is often misdiagnosed as neonatal respiratory distress syndrome (NRDS) on the basis of CXR al...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0040-1721134
更新日期:2020-11-26 00:00:00
abstract:BACKGROUND:Obesity is associated with increased risk of stillbirth, although the mechanisms are unknown. Obesity is also associated with inflammation. Serum ferritin, C-reactive protein, white blood cell count, and histologic chorioamnionitis are all markers of inflammation. OBJECTIVE:This article determines if inflam...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0038-1639340
更新日期:2018-09-01 00:00:00