Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.

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 Perinatol

authors

Murotsuki J,Uehara S,Okamura K,Yajima A,Oura T,Miyabayashi S

doi

10.1055/s-2007-994579

subject

Has Abstract

pub_date

1994-03-01 00:00:00

pages

160-2

issue

2

eissn

0735-1631

issn

1098-8785

journal_volume

11

pub_type

杂志文章,评审
  • The Impact of Sperm and Egg Donation on the Risk of Pregnancy Complications.

    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

    authors: Fishel Bartal M,Sibai BM,Bart Y,Shina A,Mazaki-Tovi S,Eisen IS,Hendler I,Baum M,Schiff E

    更新日期:2019-01-01 00:00:00

  • Prophylactic amnioinfusion in preganancies complicated by chorioamnionitis: a prospective randomized trial.

    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

    authors: Parilla BV,McDermott TM

    更新日期:1998-01-01 00:00:00

  • Association between Breast Milk and Bronchopulmonary Dysplasia: A Single Center Observational Study.

    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

    authors: Fonseca LT,Senna DC,Silveira RC,Procianoy RS

    更新日期:2017-02-01 00:00:00

  • Inadvertent amniocenteses occurring during unrelated invasive diagnostic procedures in the third trimester.

    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

    authors: Sherer DM,Abramowicz JS

    更新日期:1993-11-01 00:00:00

  • Intravenous lipid and amino acids briskly increase plasma glucose concentrations in small premature infants.

    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

    authors: Savich RD,Finley SL,Ogata ES

    更新日期:1988-07-01 00:00:00

  • Neurodevelopmental Impairment at Two Years in Premature Infants with Prolonged Patency of Ductus Arteriosus after a Conservative Approach.

    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

    authors: Aldecoa-Bilbao V,García-Catalán MJ,Gaixa M,Clotet Caba J,Teodoro S,Figaró Voltà C

    更新日期:2019-10-10 00:00:00

  • Large fetomaternal hemorrhage: prenatal predictive factors for perinatal outcome.

    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

    authors: Huissoud C,Divry V,Dupont C,Gaspard M,Rudigoz RC

    更新日期:2009-03-01 00:00:00

  • Physiologic changes induced by endotracheal instillation and suctioning in critically ill preterm infants with and without sedation.

    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

    authors: Ninan A,O'Donnell M,Hamilton K,Tan L,Sankaran K

    更新日期:1986-04-01 00:00:00

  • Accurate ultrasonic estimation of fetal weight. Effect of head shape, growth patterns, and amniotic fluid volume.

    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

    authors: Ott WJ,Doyle S,Flamm S

    更新日期:1986-07-01 00:00:00

  • Vitamin D3 metabolites stimulate prostaglandin production by human fetal membranes and placenta in vitro.

    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

    authors: Jones SA,Schneider H,Challis JR

    更新日期:1989-04-01 00:00:00

  • A rapid and safe method to detect fetal parvovirus B19 infection in amniotic fluid by polymerase chain reaction: report of a case.

    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

    authors: Nikkari S,Ekblad U

    更新日期:1995-11-01 00:00:00

  • Histologic chorioamnionitis in pregnancies of various gestational ages. II: Implications in preterm labor.

    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

    authors: Perkins RP,Zhou SM,Butler C,Skipper BJ

    更新日期:1988-07-01 00:00:00

  • Spontaneous rupture of the renal pelvis during pregnancy: a case report and review of the literature.

    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

    authors: Satoh S,Okuma A,Fujita Y,Tamaka M,Nakano H

    更新日期:2002-05-01 00:00:00

  • The very low birthweight infant: incidence and significance of low Apgar scores, "asphyxia," and morbidity. Findings at delivery.

    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

    authors: Perkins RP,Papile LA

    更新日期:1985-04-01 00:00:00

  • Glycemic Control and Pregnancy Outcomes in Women with Type 2 Diabetes Treated with Oral Hypoglycemic Agents.

    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

    authors: Feghali MN,Caritis SN,Catov JM,Scifres CM

    更新日期:2017-06-01 00:00:00

  • New Diagnostic Possibilities for Neonatal Sepsis.

    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

    authors: Tzialla C,Manzoni P,Achille C,Bollani L,Stronati M,Borghesi A

    更新日期:2018-05-01 00:00:00

  • Hypertrophic cardiomyopathy in infants of diabetic mothers: an update.

    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

    authors: Reller MD,Kaplan S

    更新日期:1988-10-01 00:00:00

  • Cost Analysis of Azithromycin versus Erythromycin in Pregnancies Complicated by Preterm Premature Rupture of Membranes.

    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

    authors: Finneran MM,Smith DD,Buhimschi CS

    更新日期:2019-01-01 00:00:00

  • AmniSure placental alpha microglobulin-1 rapid immunoassay versus standard diagnostic methods for detection of rupture of membranes.

    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

    authors: Cousins LM,Smok DP,Lovett SM,Poeltler DM

    更新日期:2005-08-01 00:00:00

  • Oscillometric and intra-arterial blood pressure in preterm and term infants: extent of discrepancy and factors associated with inaccuracy.

    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

    authors: Shimokaze T,Akaba K,Saito E

    更新日期:2015-02-01 00:00:00

  • Hypoxic hepatitis in a pregnant patient: a complication of gastric bypass surgery.

    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

    authors: Kummer N,Cackovic M,Paidas M,Funai E

    更新日期:2008-09-01 00:00:00

  • Predictive value of late decelerations for fetal acidemia in unselective low-risk pregnancies.

    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

    authors: Sameshima H,Ikenoue T

    更新日期:2005-01-01 00:00:00

  • Impact of Azithromycin-Based Extended-Spectrum Antibiotic Prophylaxis on Noninfectious Cesarean Wound Complications.

    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

    authors: Ausbeck EB,Jauk VC,Boggess KA,Saade GR,Longo S,Clark EAS,Esplin S,Cleary K,Wapner R,Letson K,Owens M,Abramovici A,Ambalavanan N,Szychowski JM,Andrews W,Tita ATN,Cesarean Section Optimal Antibiotic Prophylaxis Trial Consor

    更新日期:2019-07-01 00:00:00

  • Resolving polyhydramnios. A sign of improved fetal status.

    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

    authors: Hill LM

    更新日期:1988-01-01 00:00:00

  • Postpartum myocardial infarction in a patient with antiphospholipid syndrome.

    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

    authors: Thorp JM Jr,Chescheir NC,Fann B

    更新日期:1994-01-01 00:00:00

  • Plasma homocysteine in late pregnancies complicated with preeclampsia and in newborns.

    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

    authors: Baksu A,Taskin M,Goker N,Baksu B,Uluocak A

    更新日期:2006-01-01 00:00:00

  • Use of a PCR-based assay for fetal Cw antigen genotyping in a patient with a history of moderately severe hemolytic disease of the newborn due to anti-Cw.

    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

    authors: Reiner AP,Teramura G,Aramaki KM

    更新日期:1999-01-01 00:00:00

  • Fetal death after normal biophysical profile.

    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

    authors: Watson WJ,Katz VL,Bowes WA Jr

    更新日期:1991-03-01 00:00:00

  • Accuracy and Reliability of Lung Ultrasound to Diagnose Transient Tachypnoea of the Newborn: Evidence from a Meta-analysis and Systematic Review.

    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

    authors: Ma HR,Liu J,Yan WK

    更新日期:2020-11-26 00:00:00

  • Stillbirth, Inflammatory Markers, and Obesity: Results from the Stillbirth Collaborative Research Network.

    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

    authors: Harrison MS,Thorsten VR,Dudley DJ,Parker CB,Koch MA,Hogue CJR,Stoll BJ,Silver RM,Varner MW,Pinar MH,Coustan DR,Saade GR,Bukowski RK,Conway DL,Willinger M,Reddy UM,Goldenberg RL

    更新日期:2018-09-01 00:00:00