bluuebunny/crossref_metadata_2025 huggingface dataset:
15-Lipoxygenase in Glomerular Inflammation
Authors: Montero Angel , Badr Kamal F.
Published: April 2003

Glomerulonephritis is a significant factor fueling the rapid increase in the population of patients with end-stage renal disease. Novel therapeutic strategies targeting specific mechanisms of glomerular destruction are the most reasonable approaches to arrest ongoing injury. In this review, we summarize some of our results obtained in our effort to characterize the role of 15-lipoxygenase activation as one of the mechansisms operative during the early, prefibrotic stage of glomerular immune injury. We also summarize the effects of cytokines released during these processes, as well as the activation by aspirin of the synthesis of 15-R-HETE (see text). Finally, we will propose a clinical approach to this group of disorders, based on emerging concepts of the pathophysiology of glomerulonephritis from our work and that of several other investigators.
Treatment with Mycophenolate Mofetil Attenuates the Development of Heymann Nephritis
Authors: Luca Mariken E. , Paul Leendert C. , van der Wal Annemieke M. , Bruijn Jan. A. , de Heer Emile
Published: April 2003

Active Heymann nephritis in the rat is a model of idiopathic membranous glomerulopathy in man. The autoimmune response is directed to gp330, a large epithelial glycoprotein that is expressed on the tubular and the glomerular epithelium. Characteristic of the disease is the presence of immune complexes and complement in the glomerulus and proteinuria. We studied the effect of a new xenobiotic immunosuppressive agent, mycophenolate mofetil, on active Heymann nephritis. Mycophenolate mofetil significantly reduced the production of autoantibodies against gp330 in rats with Heymann nephritis. Glomerular deposition of IgG was not significantly lower in the treated groups than in the untreated groups with active Heymann nephritis, as detected by immunofluorescence staining. Glomerular complement component C3, however, was significantly lower in the mycophenolate mofetil treated rats. Treatment did not completely prevent the disease, but the percentage of rats that developed proteinuria in the treated groups was significantly lower than in untreated Heymann rats. The results of this study show that mycophenolate mofetil influences the T-cell-mediated humoral autoimmune response in active Heymann nephritis and results in a decreased severity of the disease.
The Molecular Basis of Cystinuria: An Update
Authors: Goodyer Paul , Boutros Marylise , Rozen Rima
Published: April 2003

Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal proximal tubule and small intestine. In 1992, a cDNA (rBAT) was isolated from kidney which induced high-affinity, sodium-independent uptake of cystine and dibasic amino acids when expressed in Xenopus oocytes. The rBAT gene was mapped to a region of chromosome 2p known to contain a cystinuria locus, and rBAT expression was demonstrated in the straight (S3) portion of renal proximal tubule and small intestine. Over 30 distinct rBAT mutations have been described in patients who inherit two fully recessive (type I) cystinuria genes. Recently, the second cystinuria gene (SLC7A9) on chromosome 19q was identified; SLC7A9 mutations were shown to cause the incompletely recessive form of cystinuria (types II and III). Patients who inherit two mutant SLC7A9 genes have recurrent nephrolithiasis comparable to those with two rBAT mutations. In some cystinuria families, patients inherit a fully recessive allele from one parent and an incompletely recessive allele from the other parent; patients with this ‘mixed type’ of cystinuria have somewhat milder disease. It is not yet clear whether this form of cystinuria involves rBAT as well as SLC7A9 mutations. Current evidence suggests that the transmembrane channel mediating uptake of cystine and dibasic amino acids at the luminal surface is encoded by SLC7A9; the smaller rBAT protein forms a heterodimeric complex with this channel and is critical for its targetting to the luminal membrane.
Endotoxin-Induced Renal Failure
Authors: Heyman Samuel N. , Rosen Seymour , Darmon David , Goldfarb Marina , Bitz Helena , Shina Ahuva , Brezis Mayer
Published: April 2003

Endotoxin-induced hypotension and altered renal microcirculation could lead to tubular injury, particularly at the physiologically hypoxic outer medulla. We explored this hypothesis in isolated perfused kidneys and in vivo in rats subjected to endotoxemia. Rat kidneys were removed 15 min after endotoxin injection in vivo (from Escherichia coli 0127:B8, 1 mg/kg i.p.) and perfused with oxygenated medium supplemented with 20 amino acids and endotoxin. Glomerular filtration rate and filtration fraction markedly declined (0.4 ± 0.1 ml/min and 1.1 ± 0.1, respectively) as compared with control kidneys (0.7 ± 0.1 ml/min and 1.8 ± 0.1, n = 8–12 per group; p < 0.05). Hypoxic injury to medullary thick ascending limbs in the innermost outer medulla increased (47 ± 9% of tubules vs. 16 ± 8% in controls, p < 0.05). When rats were preconditioned with an additional endotoxin injection 16 h earlier (a manipulation that markedly reduces cortical and medullary blood flow), glomerular filtration rate and filtration fraction further declined to 0.1 ± 0.0 ml/min and 0.4 ± 0.1, respectively (p < 0.01), and tubular sodium reabsorption fell to 81 ± 12 vs 98 ± 0% in controls (p < 0.05). Tubular damage, however, did not increase (20 ± 7%), probably reflecting a decline in reabsorptive workload and oxygen requirement. In rats subjected to a single or two repeated daily doses of endotoxin (1 mg/kg i.p.) plasma creatinine comparably rose 41% on the average over 24 h, creatinine clearance fell by 27% (p < 0.0001), but tubular damage was absent. By contrast, in rats preconditioned with indomethacin and the nitric oxide synthase inhibitor NG-nitro-L-arginine methyl ester (10 mg/kg), the addition of endotoxin markedly augmented outer medullary hypoxic tubular damage both in S3 segments (27 ± 10 vs 1 ± 1%) and in medullary thick ascending limbs (38 ± 11 vs. 10 ± 5%, n = 7–8; p < 0.05). It is concluded that under special conditions, such as altered medullary oxygen balance or defective nitric oxide or prostaglandin synthesis, endotoxin may predispose to hypoxic outer medullary tubular damage.
Effects of Antenatal Thyrotropin-Releasing Hormone on Fetal Heart Rate and Breathing Movements
Authors: Peek Michael J. , Bajoria Rekha , Talbert David , Fisk Nicholas M.
Published: April 2003

Objective: To determine the effect of maternally administered thyrotropin-releasing hormone (TRH) on fetal heart rate (FHR) pattern and fetal breathing movements (FBM). Methods: Prospective observational study of 75 pregnant women between 26 and 34 weeks’ gestation in whom pharmacological fetal lung maturation was clinically indicated. Forty-minute recordings were made of FBM or FHR patterns before and after drug administration. Twenty-five received TRH 400 µg as an intravenous bolus, 25 TRH 400 µg in 50 ml 0.9% saline as an intraveous infusion, and 25 acted as controls. Recordings were processed digitally to calculate the change in FHR (n = 45) and FBM parameters (n = 30). The main outcome measures for FHR were number of accelerations and decelerations, baseline rate, overall and short-term variation and duration of high and low variability, while for FBM they were rate, breath-to-breath interval and incidence. Results between groups were compared by analysis of variance. Results: There was no significant change in FHR, accelerations or variation in any of the groups. Similarly, there was no change in the incidence of FBM. TRH administered as a bolus produced a small statistically but not clinically significant increase in breathing rate (mean Δ = 35 breaths/h, p = 0.004), which was not seen in the TRH infusion and control groups. Conclusions: Maternally administered TRH as used to enhance fetal lung maturation has no clinically significant direct effect on FHR or FBM patterns.
Ventriculomegaly Diagnosed by Prenatal Ultrasound and Mental Development of the Children
Authors: Wilhelm C. , Keck C. , Hess S. , Korinthenberg R. , Breckwoldt M.
Published: April 2003

During the last 8 years in our department, fetal ventriculomegaly was diagnosed by prenatal ultrasound in 105 cases. Ventriculomegaly was detected at 25 ± 6 weeks of gestation. In 96 of 105 cases follow-up examinations have been performed both during pregnancy and after delivery. In 47 cases termination of pregnancy, late spontaneous abortion or intrauterine death occurred. 49 cases resulted in live births. Of these, 28 children could be followed up to the age of 36 months, a few children even longer. Myelomeningocele was the most frequent cause of ventriculomegaly (17 cases = 61%). Insertion of ventricular shunt systems was performed in 26 children at a median of 21 days of life. Analysis of postnatal development was performed by the Kaufmann Assessment Battery for Children, or the Munich Functional Development Test. Correlation analysis was performed between parameters of prenatal findings and postnatal development. It could be shown that results of single prenatal ultrasound examinations did not correlate with postnatal development whereas progression of ventriculomegaly was negatively correlated with mental development.
Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in Twins
Authors: Milunsky Jeff , Maher Thomas , Lebo Roger , Milunsky Aubrey
Published: April 2003

We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.
Chromosomal Anomalies in Abnormal Human Pregnancies
Authors: Brajenović-Milić Bojana , Petrović Oleg , Krašević Maja , Ristić Smiljana , Kapović Miljenko
Published: April 2003

Objective: The aim of this study was to describe the cytogenetic observations on abnormal human pregnancies (anembryonic pregnancy, early fetal loss, and hydatidiform moles), and to detect the most frequent or typical chromosomal aberration for anembryonic pregnancy and early fetal loss. Study Design: Abnormal pregnancies were divided into three clinical and morphological groups: (a) anembryonic pregnancy; (b) early fetal loss, and (c) hydatidiform mole. Of the 119 karyotyped tissue samples, 42 (35%) were from anembryonic pregnancies, 64 (54%) from early fetal losses, and 13 (11%) were from hydatidiform moles (6 complete and 7 partial moles). Long-term cultures of chorionic villi and GTG-banding techniques were used for chromosome analysis. Results and Conclusion: The overall frequency of chromosome anomalies among the 119 karyotyped spontaneous abortions was found to be 37.8%. Trisomy (double trisomy included) accounted for 35.6% of all aberrations, followed by polyploidy (33.3%), mosaicism (11.1%), tructural abnormalities (4.4%), and monosomy X (2.2%). Although the difference was not statistically significant, single trisomy was the predominant chromosome abnormality found in anembryonic pregnancies (64.3%) while in cases of early fetal loss, trisomy (double trisomy included) (38.9%) and triploidy (27.8%) were quite frequently present. The frequency of triploidy among all chromosomal abnormalities was 28.9%, and 53.8% of them were found in partial hydatidiform mole. The rest of them were almost exclusively found in early fetal losses. Complete hydatidiform moles (androgenetic in origin) were present in 13.3% of all aberrations, of which 83.3% had a 46,XX, and the rest of them had a 46,XY karyotype.
Successful Management of Severe Idiopathic Thrombocytopenia in the Second Trimester of Pregnancy
Authors: Antsaklis A. , Papageorgiu I. , Sindos M. , Katsimanis E. , Karaiskakis P. , Michalas S.
Published: April 2003

This paper describes a case of severe idiopathic thrombocytopenia in a primigravida. The disorder became symptomatic at 22 weeks gestation with a platelet count of 20,000/µl. The existence of chronic idiopathic thrombocytopenia under remission was strongly suspected, but could not be documented. The patient was treated with oral corticosteroids over a period of 7 weeks. During this period, she also had three cycles of high-dose intravenous globulin. This treatment produced a transient improvement, but the platelet count fell to 4,000/µl by the 29th gestational week. Caesarean section was carried out for maternal indication a week later, following a fourth intensified course of gamma-globulin, coupled with platelet transfusions and low-dose vinblastine. Splenectomy was not performed. Potentially life-threatening thrombocytopenia persisted for 6 weeks post partum. Despite the presence of circulating antiplatelet globulin in the maternal blood and the antenatal use of vinblastine, the infant was entirely unaffected and thrived.
Assessment of the Risk of Fetal Loss after the Coelocentesis Procedure Using a Baboon Model
Authors: Santolaya-Forgas J. , Vengalil S. , Kushwaha A. , Bieniarz A. , Fortman J.
Published: April 2003

Objectives: The aims of this study were to gain some insight with regard to the safety of the coelocentesis procedure and, to determine pH, pCO2, and base excess status of the extracoelomic fluid 40 days after fertilization. Methods: Twenty-eight timed-mated baboons from the breeding colony of the Biological Resource Laboratory at the University of Illinois at Chicago were studied. The initial 19 animals were used to determine the ultrasonographic relations between the different compartments of the gestational sac from 38 to 62 days of pregnancy. Under aseptic conditions, in 9 animals coelocenteses were then performed, under continuous transvaginal ultrasound guidance to avoid the amniotic or yolk sacs. Extracoelomic fluid (1–5 ml) was aspirated using 10-ml syringes. Only one attempt of sampling was performed in each of the 9 animals. Extracoelomic fluid pH, pCO2, and base excess were compared with maternal femoral venous blood. Pregnancies were followed by transabdominal ultrasound evaluations on day 3 after the procedure and weekly until day 140 after fertilization. Results: Extracoelomic fluid could be aspirated easily using a 20-gauge needle. Only one pregnancy loss was detected within 3 days after the procedure. No complications occurred in the remaining 8 pregnancies. Extracoelomic fluid pH (7.45 ± 0.01) and pCO2 (39.9 ± 2.4 mm Hg) were significantly different from maternal femoral venous blood pH (7.41 ± 0.01) and pCO2 (47.1 ± 1.4 mm Hg; p < 0.02), while base excess values were similar. Conclusions: This preliminary study performed at 40 days after fertilization in the baboon model suggests that the coelocentesis procedure is technically simple and presents a relatively low risk to mother and fetus if a 20-gauge needle is used and the amount of aspirated extracoelomic fluid is <3 cm3. At this gestational age, the extracoelomic fluid is more alkalotic than maternal femoral venous blood.
Primary Fetal Hydrothorax: A Literature Review and Proposed Antenatal Clinical Strategy
Authors: Aubard Yves , Derouineau Isabelle , Aubard Véronique , Chalifour Valerie , Preux Pierre-Marie
Published: April 2003

Objective: To investigate the prognostic factors for primitive fetal hydrothorax (PFHT) and propose a clinical strategy based on systematic literature review. Methods: We reviewed 64 articles describing 204 cases of PFHT. For each case we focused on 11 criteria. We investigated prognostic factors in the 89 cases where no in utero treatment was undertaken. We also studied the impact of different in utero treatments on the evolution of PFHT. Results: We have found 4 factors correlated with the course of PFHT: the presence of hydrops, gestational age at time of birth, the unilateral or bilateral nature of the effusion, and the occurrence of spontaneous resolution. With multivariate analysis, only hydrops remained determinant as a prognostic factor. Conclusions: Studies such as ours, reviewing case reports or series, are subject to the biases of literature underreporting of therapeutic failures or nonintervention. However (with the best available data) we propose a clinical approach to PFHT discovered in utero.
Elevated Second-Trimester Maternal Urine Free Beta-Human Chorionic Gonadotropin Levels in Asian Pregnancies with Fetal Chromosomal Abnormalities
Authors: Hsu Jenn-Jeih , Hung Tai-Ho , Liou Jui-Der , Hsieh T’sang-T’sang , Soong Yung-Kwui
Published: April 2003

Objectives: To investigate the second trimester maternal urine free beta-human chorionic gonadotropin (hCG) levels of chromosomally abnormal pregnancies in Asians. Methods: Free beta-hCG levels were analyzed from the urine samples of 110 control and 17 chromosomally abnormal pregnancies, including 11 cases of Down syndrome, 1 case of trisomy 18, and other chromosomal abnormalities (one mosaic deletion and 4 translocations) from the second trimester of pregnancy. Results were normalized to urine creatinine (Cr) concentration and converted to the multiple of the median (MOM) level for the appropriate gestation. Gestational age of all cases was determined by ultrasound parameters. Results: The median free beta-hCG MOM levels of Down syndrome (4.02 MOM) and other chromosomally abnormal pregnancies (2.03 MOM) are significantly higher than that of normal pregnancies (0.99 MOM) (p = 0.002 and p = 0.024, respectively). Nine of 11 (81.8%) Down syndrome cases, one trisomy 18 case, and 2 of 5 (40%) other chromosomally abnormal cases would be expected to be above the 95th centile of the control values (2.95 MOM cut-off). Conclusion: Urine free beta-hCG could be a potential and useful marker in the detection of fetal Down syndrome and other chromosomal abnormalities in Asians.
A Survey of Attitudes about Maternal Serum Screening for Fetal Chromosome Abnormalities in Women 35 Years of Age and Older
Authors: Phillips Owen P. , Seely Linda , Wan Jim Y. , Wachtel Stephen S. , Shulman Lee P.
Published: April 2003

We asked two groups of women their opinion on prenatal diagnosis and maternal serum screening (MSS): group 1 comprised women who had undergone a prenatal diagnostic procedure (amniocentesis or chorionic villus sampling) for advanced maternal age (≥35 years) and group 2 women who had undergone MSS and were 30–34 years old. Women in group 1 were found significantly less likely to choose MSS over prenatal diagnosis than were women in group 2. The sensitivity of MSS and the age-related risk of chromosome abnormalities influenced opinions on whether to choose MSS or prenatal diagnosis. In both groups, the majority stated that they would accept MSS over prenatal diagnosis, if their obstetrician recommended it.
Screening for Down’s Syndrome and Neural Tube Defect in Croatia
Authors: Brajenović-Milić Bojana , Tišlarić Dubravka , Bačić Josip , Paravić Jadranka , Slivar Anatelo , Kapovic Miljenko , Košec Vesna , Ristic Smiljana , Rajhvajn Branko
Published: April 2003

Objective: The purpose of this study was to investigate the efficiency of second-trimester maternal serum screening for Down’s syndrome and open neural tube defects using alpha-fetoprotein and free β-human chorionic gonadotropin as serum markers. Methods: 3,188 women underwent testing between 14th and 22nd week of pregnancy. Of all tested patients, 25.4% were ≥35 years old. A cut-off risk of ≥1:250 for Down’s syndrome and MS-AFP ≥2.0 MoM for open neural tube defect were considered screen-positive. Results: The detection rate for Down’s syndrome was 77.8% (7/9) with 8.2% screen-positive rate (7.9% false-positive rate). When evaluated separately, in patients younger than 35 and in those ≥35 years old, the screen-positive rates were 3.1 and 23.3%, respectively. A total of 52 (1.6%) were found screen-positive for open neural tube defect; 2 cases of encephalocela and 1 case of gastroschisis were confirmed prenatally. Conclusion: The respectable number of cases with trisomy 21 identified in this study confirms that routine mid-trimester screening for Down’s syndrome including MS-AFP, free β-hCG and maternal age is useful in identifying pregnancies at increased risk.
Detection of Trisomy 18 by Double Screening in a Low-Risk Pregnant Population
Authors: Seppo Heinonen , Markku Ryynänen , Marko Niemimaa , Pertti Kirkinen
Published: April 2003

Objective: A combination of low concentrations of maternal serum alpha fetoprotein (MSAFP) and human chorionic gonadotropin (hCG) was used to screen for trisomy 18 in early 2nd-trimester pregnancies in a low-risk child-bearing population. Methods: Women less than 37 years of age were offered screening between 15 and 20 weeks of gestation. Those pregnancies showing low concentrations of MSAFP (<0.75 multiples of the median) and hCG (<0.5 multiples of the mean) were considered positive. If gestational age was confirmed, genetic counselling and invasive prenatal diagnosis were offered. Results: Between January 1995 and December 1996, 19,491 women were screened, of whom 252 were found to be positive (1.25%). 145 invasive procedures were carried out, and 3 cases were detected. The odds of a fetus being affected after a positive screen result were 1 in 36. Conclusions: Measurement of low concentrations of MSAFP and hCG in pregnant women less than 37 years of age is an effective screening test for Edward’s syndrome, but with regard to the natural history of this genetic condition, it can result in overuse of invasive tests which in turn can harm chromosomally normal pregnancies. This stresses the need to evaluate these pregnancies further with detailed ultrasonographic assessment and selective fetal karyotyping only.
Equalization of Amniotic Fluid Volumes after Decompression Amniocentesis for Treatment of the Twin Oligohydramnios-Polyhydramnios Sequence
Authors: Bruner JosephP. , Crean DebbieM.
Published: April 2003

Objective: To measure acute and chronic changes in the placenta and amniotic fluid associated with performance of decompression amniocentesis in pregnancies with the twin oligohydramnios-polyhydramnios sequence (TOPS). Methods: Amniotic fluid pressures, placental thickness, placental perfusion, and amniotic fluid volumes were measured in each sac of a monochorionic diamniotic twin gestation before and after decompression amniocentesis. Indigo carmine was injected into the polyhydramnic sac after decompression, and fluid from the oligohydramnic sac was sampled after equilibration. Spectrophotometric analysis of amniotic fluid specimens was performed for dye detection. Amniotic fluid volume and placental perfusion studies were repeated 1 week later. Results: Three patients with TOPS were enrolled, and decompression amniocentesis was performed in the midtrimester. After decompression, amniotic fluid volume decreased in the polyhydramnic sac, amniotic fluid pressures decreased in both sacs, placental thickness increased, and umbilical artery Doppler velocimetry was unaffected. The amniotic fluid volume increased acutely in only one oligohydramnic sac after decompression, and ultrasonographic examination, amniotic fluid spectrophotometric analysis, and placental pathologic examination all identified interfetal membrane disruption as the etiology. Conclusions: Decompression amniocentesis as a treatment for TOPS does not result in acute or chronic changes in the amniotic fluid volume of the oligohydramnic sac in the absence of interfetal membrane disruption.
Iatrogenic Monoamniotic Twin Gestation with Progressive Twin-Twin Transfusion Syndrome
Authors: Suzuki Shunji , Ishikawa Gen , Sawa Rintaro , Yoneyama Yoshio , Otsubo Yasuo , Araki Tsutomu
Published: April 2003

Objective: Intentional puncture of the membrane has been reported to be a promising new method for the management of twin-twin transfusion syndrome. Case Report: Treatment of twin-twin transfusion syndrome with serial amniocenteses resulted in unintentional puncture of the dividing membrane at 24 weeks of gestation. Fetal growth discordance increased, and twin-twin transfusion did not improve following the puncture. Intrauterine death of both fetuses at 27 weeks of gestation occurred. Conclusion: Amniotic septostomy for the treatment of twin-twin transfusion sydnrome should be performed with serious consideration.
Antenatal Therapy of Smith-Lemli-Opitz Syndrome
Authors: Irons Mira B. , Nores Jose , Stewart Theresa L. , Craigo Sabrina D. , Bianchi Diana W. , D’Alton Mary E. , Tint G. Stephen , Salen Gerald , Bradley Linda A.
Published: April 2003

Objectives: Smith-Lemli-Opitz syndrome (SLOS) is a recessively inherited disorder caused by an inborn error of cholesterol metabolism that results in deficiency of cholesterol and accumulation of the cholesterol precursor, 7-dehydrocholesterol (DHC) and its epimer, 8-DHC. Affected patients present with congenital anomalies, growth restriction, and mental retardation. Postnatal treatment with cholesterol supplementation has been shown to improve plasma sterol levels and has resulted in improved growth and development in many patients. We hypothesized that prenatal supplementation of cholesterol could potentially arrest some of the adverse consequences of cholesterol deficiency at an earlier stage of development. Methods: SLOS was diagnosed in the third trimester in a fetus initially identified by sonography with intrauterine growth restriction and ambiguous genitalia and confirmed by elevated levels of 7- and 8-DHC in amniotic fluid. Antenatal supplementation of cholesterol was provided by fetal intravenous and intraperitoneal transfusions of fresh frozen plasma (cholesterol level = 219 mg/dl). Results: The in utero transfusions resulted in increased levels of fetal cholesterol, as measured in blood samples obtained by cordocentesis. In addition, fetal red cell mean corpuscular volume rose, which further indicated that the exogenous cholesterol was incorporated into the fetal erythrocytes. Conclusions: Antenatal treatment of SLOS by cholesterol supplementation is feasible and results in improvement in fetal plasma cholesterol levels and fetal red cell volume. SLOS may be added to the growing list of human genetic disorders for which prenatal diagnosis is available and therapeutic intervention may be possible.
Can We Suspect Fetal Down Syndrome by Heart Evaluation during the Second Half of Pregnancy?
Authors: Respondek-Liberska Maria , Nowicki Grzegorz , Krasoñ Aneta , Kaczmarek Piotr , Kociszewska Iwona , Danuta Broniarczyk
Published: April 2003

Thirty fetuses with Down syndrome, who had detailed fetal echocardiography and sonography at the tertiary center with videotape recordings, were retrospective analyzed by one observer with a specially prepared flow sheet. The mean gestational age of the fetuses at the time of the study was 31 ± 5.6 (minimum 21, maximum 39) weeks. The ‘main’ fetal abnormalities were congenital heart defect (CHD): in 13 cases (43.3%) an abnormal 4-chamber view was recorded, including 6 cases (20%) of isolated CHD and 7 (23.3%) of coexisting CHD + extracardiac malformation. Of the 13 cases of CHD, there were 12 cases of atrio-ventricular canal and 1 case of ventricular septal defect. Normal heart anatomy was recorded in 17 cases (56.7%), including 2 with tricuspid value regurgitation. From the videotape recordings also some ‘minor’ abnormalities were noticed in a few cases such as: femur length shortening; sandal gap; pericardial effusion; macroglossia; echogenic bowel; absent diastolic flow in the umbilical artery, and others. The prevalence of CHD in the study group was similar to the prevalence of CHD in the comparison group of 20 newborns with Down syndrome, born during the same period of time at the same institution, who had not had prenatal scanning at all (χ2, p > 0.05). Conclusions: (1) the main ‘major’ abnormality which might be detected in a fetus with Down syndrome after 20 weeks of pregnancy is CHD, which was presented in 43.3% of this series; (2) the presence of any extracardiac malformation should prompt the sonographer for detailed heart evaluation, and (3) fetal echocardiography may increase the accuracy of ‘genetic sonogram’ in Down syndrome.
Effect of Amnioinfusion on the Outcome of Prenatally Diagnosed Gastroschisis
Authors: Luton Dominique , de Lagausie Pascal , Guibourdenche Jean , Oury Jean-François , Sibony Olivier , Vuillard Edith , Boissinot Christine , Aigrain Yves , Beaufils François , Navarro Jean , Blot Philippe
Published: April 2003

Objective: Following recent data showing that an inflammatory response exists in the amniotic fluid of gastroschisis-affected fetuses, we hypothesized that amniotic fluid exchange or amnioinfusion would improve the prognosis of prenatally diagnosed gastroschisis. Methods: We compared the outcome of prenatally amnioinfused fetuses with gastroschisis to non-amnioinfused fetuses with gastroschisis. 10 patients undergoing this procedure were matched with 10 patients of our previous study. Comparisons were done on data including surgical procedure, follow-up in the NICU and the gastro-pediatric unit. Results: Our results show that gastroschisis-affected fetuses undergoing amnioinfusion had a lower duration of curarization after surgery (2.2 ± 1.9 vs. 6.8 ± 6.9 days, p = 0.019), a shorter delay before full oral feeding (49.7 ± 21.5 vs. 72.3 ± 56.6 days, NS), and a shorter overall length of hospitalization (59.5 ± 19.7 vs. 88.5 ± 73.6 days, NS). We confirmed our previous data showing that amniotic fluid displays a chronic inflammation profile. Conclusion: Our data suggest that amnioinfusion could improve the outcome of gastroschisis affected fetuses. The hypothesis by which this improvement could be due to a reduction of an inflammatory response remains to be proved.
Comparison of Unstimulated and Stimulated Behaviour in Human Fetuses with Congenital Abnormalities
Authors: Vindla Srini , James David , Sahota Daljit
Published: April 2003

Unstimulated (passive) and stimulated behaviour [fetal heart rate (FHR) and movements (FA)] was studied in 32 normal fetuses and 10 fetuses with congenital abnormalities (CA). FHR and FA were recorded using a single 1.5-MHz ultrasound transducer and analysed by computer. A 5-second vibroacoustic stimulus (VAS) (‘electronic artificial larynx’) was used for the stimulation studies. Thus, passive and stimulated behaviour could be studied in a group of fetuses with known pathologies. One hour was used as the recording time for the passive studies and 20 min for the stimulation studies (10 min pre- and 10 min post-VAS). All CA fetuses had abnormalities of FHR and/or FA on recording passive behaviour compared to normal fetuses. However, 4 of the 10 fetuses with CA had responses to VAS that were within the normal range for both FHR and FA. We do not feel that computerised assessment of stimulated behaviour in fetuses with CA confers any advantage over analysis of passive behaviour.
Distribution of Neural Tube Defects as a Function of Maternal Weight:No Apparent Correlation
Authors: Feldman Baruch , Yaron Yuval , Critchfield Gregory , Leon Jorge , O’Brien Joseph E. , Johnson Mark P. , Evans Mark I.
Published: April 2003

Objectives: Maternal nutritional deficiency is an important predisposing factor to congenital neural tube defects (NTDs). It was hypothesized that obese women may have an increased risk for NTDs. The aim of the present study was to address this question in a large cohort. Methods: A total of 72,915 consecutive cases of biochemical screening that had documented maternal weights and pregnancy outcomes were identified from the Quest Diagnostic Laboratories database. Patients were divided into five ranges of maternal weights, and the incidence of NTDs was calculated for each group. Based on the different definitions of maternal overweight, the data were also analyzed based on 2 groups only, obese and nonobese, using three cutoff points. Results: Seventy-nine pregnancies were complicated by NTDs (incidence of 1.08 per 1,000 pregnancies). Differences between maternal weights ranges were not found to be statistically significant (χ2 = 5.997, p = 0.19, power = 0.99). Differences between obese and nonobese mothers were not found to be statistically significant for all three analyses as well. Conclusions: Our present results do not support an association between maternal obesity and NTDs.
Ontogeny of Recurrent Hydrocephalus: Presentation in Three Fetuses in One Consanguineous Family
Authors: Brady Teresa B. , Kramer Ralph L. , Qureshi Faisal , Feldman Baruch , Kupsky William J. , Johnson Mark P. , Evans Mark I.
Published: April 2003

A consanguineous couple had 3 pregnancies in which prenatally diagnosed hydrocephalus was observed (in 1 female and 2 male fetuses). This case appears to represent an autosomal recessive form of hydrocephalus, given the consanguinity, affected sibs of both genders, and no evidence for intrauterine infection, chromosome abnormality, or neural tube defect.
Preterm Premature Rupture of Membranes in a Patient with the Hypermobility Type of the Ehlers-Danlos Syndrome
Authors: De Vos M. , Nuytinck L. , Verellen C. , De Paepe A.
Published: April 2003

Objectives: This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. Pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. Case: A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks’ gestation. Premature rupture of membranes occurred at 23 weeks’ gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus’ skin, which were compatible with the diagnosis of EDS. Conclusions: Patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician’s alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients.
A Rare Cause of Fetal Ascites: A Case Report of Günther’s Disease
Authors: Lienhardt A. , Aubard Y. , Laroche C. , Gilbert B. , Bernard Ph. , Masseri G. , Bouleisteix J.
Published: April 2003

Despite an arsenal of ever-improving diagnostic tools, determining the precise etiology of fetal ascites is not always possible. We report a case history where moderately-severe fetal ascites was retrospectively determined to be due to Günther’s disease (congenital erythropoietic porphyria). The infant was found to carry the mutation associated with the most severe disease phenotype in which fetal hydrops has been described.
Extrasystoles in the Fetal CTG during Labour Might Be a First Sign of Fetal-Neonatal Sepsis
Authors: van Kordelaar L.S. , Nijdam W. , Eskes T.K.A.B.
Published: April 2003

A case of extrasystoles in the fetal electrocardiogram during labour is presented as a possible early sign of fetal-neonatal sepsis. Colleagues are invited to respond similar experience.
Lung Development in Diamniotic Twins Discordant for Complete Urinary Tract Obstruction
Authors: Holden D.P. , Schwarzler P. , De Tayrac R. , Senat M.V. , Ville Y.
Published: April 2003

Objectives: To investigate the effect of anhydramnios on the lung development of 1 twin in the presence of a normal amniotic fluid volume in its diamniotic co-twin. Methods: Three sets of diamniotic twins, discordant for complete urinary tract obstruction and anhydramnios, were followed prospectively with regular ultrasound scans and after delivery. Results: All 3 twins with complete urinary tract obstruction and anhydramnios died within 2 days after birth, with confirmed severe pulmonary hypoplasia. In every case the twin with a normal amount of surrounding amniotic fluid had a normal postnatal outcome. Conclusions: The observation that a normal amniotic fluid volume in one sac does not protect the anhydramniotic twin from pulmonary hypoplasia has important implications for the aetiology of the condition and for the possibility of therapeutic septostomy. These results are discussed in relation to previous human and animal studies.
Diagnosis of Arachnoid Cysts on Prenatal Ultrasound
Authors: Barjot Philippe , von Theobald Peter , Refahi Nasser , Delautre Vincent , Herlicoviez Michel
Published: April 2003

The aetiology and physiology of congenital arachnoid cysts are a source of controversy. We report a case where fetal cerebral ultrasonography shows an extraventricular sonolucent cystic formation after 20 weeks of pregnancy. Ultrasonography provides its topographic relations with adjacent brain structures and is also used to diagnose possible associated malformations. MRI confirms the ultrasonographic findings by investigating cerebral gyri. The rest of the examination involves detection of extracerebral anomalies and a karyotype study. Other differential diagnoses will be considered as a function of the embryological origin and topography of arachnoid cysts. The outcome of these arachnoid cysts depends on the age at the time of diagnosis, their size and their topography. The problem is that hydrocephalus, due to compression of the cerebrospinal fluid drainage pathways, may develop. Treatment, if necessary, is nearly always surgical.
Prenatal Ultrasound Diagnosis of a Femur-Fibula-Ulna Complex during the First Half of Pregnancy
Authors: Florio Ivrea , Wisser Josef , Huch Renate , Huch Albert
Published: April 2003

A case of fetal femur-fibula-ulna (FFU) complex diagnosed by ultrasound is presented. Ultrasonographic features of a fetus displaying bilateral femoral hypoplasia, aplasia of the right forearm and the right hand, ray defects of the left hand are described. The importance of an early diagnosis of this malformation is emphasized with respect to parental counselling concerning prognosis and further prenatal management.
Course of Maternal Serum Magnesium Levels in Low-Risk Gestations and in Preterm Labor and Delivery
Authors: Arikan Gürkan M. , Panzitt Thomas , Gücer Fatih , Scholz Heinz S. , Reinisch Sabine , Haas Josef , Weiss Peter A.M.
Published: April 2003

Objectives: To describe the course of total and ionized magnesium and total calcium levels in maternal serum during low-risk pregnancies and to compare women who developed preterm labor and delivery with those who delivered at term. Methods: 209 women with low-risk pregnancies were enrolled in a prospective trial before the 18th week of gestation. No woman received oral magnesium supplementation. The ionized and total magnesium and total calcium levels in maternal serum were measured every 4–6 weeks. The data were grouped into 3 gestational periods (≤18, 19–27 and ≥28 weeks of gestation) for overall comparison and analyzed with the general linear model for repeated measurements and ANOVA. p values of < 0.05 were considered statistically significant. Results: 145 gestations were available for analysis. 27 women were hospitalized for preterm labor and in 16 of these preterm delivery occurred. Ionized and total magnesium and calcium levels were significantly lower after the 18th week of gestation than before. The cation levels in women with preterm labor and delivery did not differ from those with term delivery. Conclusion: Ionized and total magnesium and calcium levels decrease with increasing gestational age. Preterm labor and delivery do not seem to be related to changes in serum cation levels.
Failure of Amniotic Septostomy in the Management of 3 Subsequent Cases of Severe Previable Twin-Twin Transfusion Syndrome
Authors: Pistorius Lourens R. , Howarth Graham R.
Published: April 2003

Introduction: Amniotic septostomy has been described as a method to treat twin-twin transfusion syndrome. A case report of 3 patients treated in this way is described. Case report: Three subsequent patients, who presented with twin-twin transfusion syndrome, were treated by amniotic septostomy. All 3 showed initial improvement in the amniotic fluid volume and mobility of the donor fetus. However, all three pregnancies were lost within 5 days of the amniotic septostomy due to ruptured membranes and premature labour. Conclusion: In our experience, amniotic septostomy did not improve the pregnancy outcome in twin-twin transfusion syndrome. Possible reasons for this are discussed.
Are Bilateral Fetal Lung Masses Double Trouble?
Authors: Lipshutz Gerald S. , Lopoo John B. , Jennings Russel W. , Farrell Jody , Harrison Michael R. , Albanese Craig T.
Published: April 2003

Objectives: To examine the perinatal natural history of bilateral fetal cystic lung masses. Methods: The records of a tertiary medical center over a 3-year period were reviewed for cases of fetal bilateral pulmonary masses. Results: Three of 98 fetuses referred for evaluation over a 3-year period from September of 1995 to August of 1998 had bilateral lung lesions. Two of these cases resulted in live births, while one, associated with hydrops, resulted in death after preterm delivery. Conclusions: Similar to prenatally diagnosed unilateral lung lesions, hydropic fetuses with bilateral cystic lung lesions have a poor prognosis. Nonhydropic fetuses, however, may be asymptomatic despite persistent lesions on postnatal CT scan. These observation may prove helpful for prenatal counseling for these rare lesions.
Continuous Observation of Nitric Oxide Production in the Fetal Rat Brain during Uteroplacental Ischemia
Authors: Asakura Hirobumi , Nakai Akihito , Yokota Akishige , Sekiguchi Atsuko , Koshino Tatsuo , Araki Tsutomu
Published: April 2003

Objectives: To demonstrate real-time changes in nitric oxide (NO) production within fetal rat brain during uteroplacental ischemia and subsequent reperfusion. Methods: Using a selective microsensor for NO, changes in NO electrocurrent in the brains of 10 fetal rats at gestational day 20 were observed during and after 30 min occlusion of uterine vessels in anesthetized pregnant rats. Results: The NO electrocurrent reached 397 ± 71.0% of the control level 30 min after occlusion and increased throughout the observation (p < 0.05) until placental administration of 1 M of L-NAME. In contrast, no significant changes in NO electrocurrent were found in 7 sham operated rats. Conclusion: An NO-specific microelectric sensor detected excessive NO production by fetal rat brains in response to uteroplacental ischemia.
Multifetal Pregnancy Reduction and Selective Termination: The Canadian Experience
Authors: von Dadelszen Peter , Johnson Jo-Ann M. , Farquharson Duncan F. , Wilson R. Douglas , Seaward P. Gareth R.
Published: April 2003

Objective: To describe the experience of two Canadian referral centres with multifetal pregnancy reduction (MFPR) and selective termination (ST). Methods: Retrospective chart review of all MFPR and ST procedures during the periods from January 1, 1990, to December 31, 1997 (Vancouver), and from September 1, 1995, to December 31, 1997 (Toronto). Outstanding outcome data were obtained by telephone. All women were managed according to standard protocols. Non-parametric analysis of continuous variables and Fisher’s exact test for categorical variables were used. Results: 61 women underwent transabdominal MFPR (n = 44) or ST (n = 17). Median maternal age: MFPR and ST 33.0 years; gestational age at reduction: MFPR 11.4, ST 20.2 weeks; procedure duration: MFPR 4, ST 10 min. 89% MFPR and 12% ST cases followed assisted reproduction. 7% MFPR and 18% ST pregnancies lost <24 weeks (n.s.). 97% MFPR and 83% ST non-reduced fetuses delivered alive. Median delivery gestational age: MFPR and ST 37 weeks. Conclusions: The results are similar to published series. This procedure has increased options for Canadian couples, offering the procedure ‘close to home’, reducing costs and, more importantly, the significant psychological morbidity following these procedures.
Cerebellar Hypoplasia: Could It Be a Sonographic Finding of Abnormal Fetal Karyotype in Early Pregnancy?
Authors: Rosati Paolo , Guariglia Lorenzo
Published: April 2003

Objective: To evaluate the screening utility of early transvaginal measurement of transverse cerebellar diameter for the identification of fetuses with abnormal karyotype. Methods: We retrospectively analyzed the transverse cerebellar diameters of 56 fetuses with abnormal karyotypes (study group) and 1,892 euploid fetuses (control group) at 11–16 weeks of gestation. A nomogram with confidence intervals (10th and 90th percentile) was established for transverse cerebellar diameters versus gestational age in the control fetuses and individual values for chromosomally abnormal fetuses were plotted. A regression equation of expected transverse cerebellar diameter for each gestational age was calculated from 100 euploid fetuses chosen randomly and applied to the remaining control fetuses and to the study group fetuses. The ratio of observed to expected cerebellar diameters was calculated in the control group and compared with those obtained in single chromosome anomalies. Results: The measurements obtained in aneuploid fetuses are within the normal range for gestational age. Only in 2 of the 37 Down syndrome fetuses and in 2 of the 4 fetuses with trisomy 13 was the observed to expected measurement ratio below the 5th percentile for gestational age. Conclusion: In our experience, the measurement of transverse cerebellar diameter cannot be considered as a useful tool in the detection of aneuploidy in early pregnancy. The data concerning trisomy 13 are too small, so that caution should be exercised when supposing an association between cerebellar hypoplasia detectable by early transvaginal scan and risk of this aneuploidy.
Treatment of Heterotopic Cervical and Intrauterine Pregnancy
Authors: Carreno Carlos A. , King Mary , Johnson Mark P. , Yaron Yuval , Diamond Michael P. , Bush Dana , Evans Mark I.
Published: April 2003

Objective: To find a suitable technique to selectively terminate a cervically implanted embryo while maintaining viability of a concomitant intrauterine pregnancy. Methods: A 34-year-old patient achieved a twin pregnancy after 4 IVF attempts. Ultrasound revealed a viable intrauterine and cervical pregnancy. Given our experience with KCl injection for fetal reduction, we offered the patient an attempt to reduce the cervical pregnancy. Results: Best visualization in this case was obtained by transabdominal scanning. A 6-inch 20-gauge spinal needle was inserted transcervically and maneuvered into the thorax of the embryo. Fetal heart rate ceased even before KCl could be injected. Then 3 cm3 of saline were injected to provide better visualization of the cervical fetus, and to confirm absence of heart beat. The patient had minor vaginal bleeding for several days. The intrauterine pregnancy progressed uneventfully through 361/2 weeks with delivery of a healthy, 2,700-gram newborn. Conclusion: Cervical pregnancy is usually considered a life-threatening event. Other factors such as concomitant intrauterine pregnancy and the patient’s infertility history generally would be secondary concerns. In this case, we were able to selectively terminate the cervical pregnancy, while preserving the intrauterine one, allowing this couple to have a healthy newborn. Further cases will be necessary to appropriately define risk rates for such an approach.