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Fetal Malformations (fetal + malformation)

Distribution by Scientific Domains

Life Sciences	52%
Medical Sciences	47%

Selected Abstracts

Fetal Malformations and Folate Metabolism: Review of Recent Evidence

NUTRITION REVIEWS, Issue 7 2001
M.B.A., Susan Moyers M.P.H.
Although a reduction in incidence of neural tube defects is unequivocally linked to adequate folate status, evidence is also mounting associating folate with other fetal malformations. The emerging discoveries about single nucleotide polymorphisms have given new insight into folate biochemistry, enabling more precise understanding of how genetic variations influence folate-dependent pathways in embryogenesis. Findings suggest that folate status may be partly under genetic control, and may involve a "cocktail effect" resulting from interactions among genes, nutrients, and enzymes. Despite major laboratory advances, much of the human evidence comes from observational studies, and questions linger that cannot be definitively answered without randomized clinical trials. [source]

Developmental toxicity of indium: Embryotoxicity and teratogenicity in experimental animals

CONGENITAL ANOMALIES, Issue 4 2008
Mikio Nakajima
ABSTRACT Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increasingly necessary. The developmental toxicity of indium in experimental animals was summarized. The intravenous or oral administration of indium to pregnant animals causes growth inhibition and the death of embryos in hamsters, rats, and mice. The intravenous administration of indium to pregnant animals causes embryonic or fetal malformation, mainly involving digit and tail deformities, in hamsters and rats. The oral administration of indium also induces fetal malformation in rats and rabbits, but requires higher doses. No teratogenicity has been observed in mice. Caudal hypoplasia, probably due to excessive cell loss by increased apoptosis in the tailbud, in the early postimplantation stage was considered to account for indium-induced tail malformation as a possible pathogenetic mechanism. Findings from in vitro experiments indicated that the embryotoxicity of indium could have direct effects on the conceptuses. Toxicokinetic studies showed that the embryonic exposure concentration was more critical than the exposure time regarding the embryotoxicity of indium. It is considered from these findings that the risk of the developmental toxicity of indium in humans is low, unless an accidentally high level of exposure or unknown toxic interaction occurs because of possible human exposure routes and levels (i.e. oral, very low-level exposure). [source]

The teratogenic risk of antiepileptic drug polytherapy

EPILEPSIA, Issue 5 2010
Frank J. E. Vajda
Summary Purpose:, To compare the risks of fetal malformation during pregnancy associated with antiepileptic drug (AED) polytherapy and monotherapy. Methods:, Statistical analysis of malformation rate and antiepileptic drug exposure data from the Australian Register of Antiepileptic Drugs in Pregnancy, and from the literature. Results:, The calculated relative risk (RR) value for AED polytherapy compared with monotherapy was below 1.0 in only 3 of 14 literature publications. In the register, at 1 year postnatally there were fetal malformations in 5.32% of 282 AED polytherapy pregnancies, and in 7.84% of 791 AED monotherapy pregnancies, an RR of 0.68 [95% confidence interval (CI) 0.39,1.17). For pregnancies exposed to valproate, the RR of fetal malformation (0.39, 95% CI 0.20,0.89) was lower in polytherapy (7.26%) than in monotherapy (17.9%); the difference did not depend on valproate dosage. The RR values for fetal malformation were not significantly different for AED polytherapy and monotherapy when valproate was not involved. Logistic regression suggested that coadministration of lamotrigine may have reduced the malformation risk from valproate. Discussion:, The fetal hazard of AED polytherapy relative to monotherapy may depend more on the degree of exposure to valproate than on the fact of polytherapy per se. Coadministration with lamotrigine may lower the fetal risk of valproate therapy. [source]

Fetal eyeball volume: relationship to gestational age and biparietal diameter

PRENATAL DIAGNOSIS, Issue 8 2009
Marwan Odeh
Abstract Objective To measure and determine normal values of the fetal eyeball volume between 14 and 40 weeks of gestation. Methods The volume of the fetal eyeball was measured with three-dimensional ultrasound between 14 and 40 weeks of gestation using the VOCAL software. Only singleton pregnancies without fetal growth restriction, diabetes mellitus, hypertension or major fetal malformation were included. Results Over all, 203 women were studied. In 125 both eyeballs were measured while in 78 only one eyeball was measured. The volume of the eyeball correlated strongly with gestational age (right: R = 0.946, P < 0.001, n = 171. left: R = 0.945, P < 0.001, n = 156), and with the biparietal diameter (BPD) (right: R = 0.949, P < 0.001, n = 171. left: R = 0.953, P < 0.001, n = 156). Using regression analysis the best correlation between eyeball volume and the BPD were: square of right eyeball = ,0.180 + 0.187 BPD, square of left eyeball = ,0.182 + 0.187 BPD. Conclusions The volume of the eyeball has strong positive correlations with gestational age and BPD. Our data may be helpful in fetuses suspected of having eye anomalies. Copyright © 2009 John Wiley & Sons, Ltd. [source]

CGH in the detection of confined placental mosaicism (CPM) in placentas of abnormal pregnancies

PRENATAL DIAGNOSIS, Issue 9 2002
A. Amiel
Abstract Comparative genomic hybridization (CGH) was applied to samples taken from various sites of placentas originating from complicated pregnancies: 24 with intrauterine growth restriction (IUGR), one with multiple fetal malformation, one with toxemia, one with hydrocephalus and two with undetectable maternal serum alpha-fetoprotein (MSAFP). One of the most common aberrations in the IUGR cases was the addition of a whole or part of the X chromosome. Other aberrations such as additional Y chromosome or of 13(q22) or loss of chromosome 17 also appeared in different cases. In one IUGR case trisomy 8 (in one site) and 47,XXY (in all sites) were detected. In the two cases with undetectable MSAFP monosomy 16 was found. Some of the results were also confirmed by the FISH technique. In all the control cases (six normal and five with aneuploidy) CGH concurred with the known karyotype. Our results demonstrate the usefulness of the CGH technique in the genetic evaluation of fresh and paraffin embedded placentas in problematic pregnancies even when morphology is normal. However, it is very important to take multiple samples from different sites of the placenta. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype

PRENATAL DIAGNOSIS, Issue 5 2002
M. V. Senat
Abstract Objective This study was conducted to evaluate pregnancy outcome and mid- and long-term prognosis of cases with nuchal translucency ,4,mm and normal karyotype. Methods Retrospective analysis of 160 cases who presented with a nuchal translucency ,4,mm when the CRL was between 45 and 84,mm was undertaken. Cystic hygromas were excluded. When the karyotype was normal a detailed anomaly scan was performed at 20 to 24 weeks followed by serial ultrasound examination. Clinical examination of the neonates was performed by a paediatrician. Long-term follow-up was completed through a questionnaire filled in by parents, GPs and paediatricians. Results 160 fetuses had an NT ,4,mm. 44.3% had an abnormal karyotype. Of the 55.7% with normal karyotypes, 74 % did not show any abnormalities on follow-up ultrasound scan. Mid- and long-term outcome was known in 91% of the cases. 6.4% had a malformation diagnosed only at birth. Among the normal neonates, 11.1% are considered to have a significant neurological handicap or orthopaedic problems at 12 to 72 months of age. Conclusion In an unselected population, NT ,4,mm is associated with a high incidence of chromosomal and non chromosomal abnormalities. Even when the fetal karyotype and serial ultrasound examinations are considered to be normal, the risk of fetal malformation and developmental delay should not be underestimated. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Antiandrogenic effects of dibutyl phthalate and its metabolite, monobutyl phthalate, in rats

CONGENITAL ANOMALIES, Issue 4 2002
Makoto Ema
ABSTRACT, Developmental toxicity following administration of dibutyl phthalate (DBF) and its major metabolite, monobutyl phthalate (MBuP), by gavage was determined in Wistar rats. DBF on days 0,8 of pregnancy induced an increase in the incidence of preimplantation loss at 1250 mg/kg and higher and postimplantation loss at 750 mg/kg and higher. MBuP on days 0,8 of pregnancy produced an increase in the incidence of pre-and postimplantation loss at 1000 mg/kg. DBF on days 7,15 of pregnancy caused an increase in the incidence of fetuses with malformations at 750 mg/kg. MBuP on days 7,15 of pregnancy produced an increased incidence of fetuses with malformations at 500 mg/kg and higher. DBF on days 15,17 of pregnancy resulted in a decrease in the anogenital distance (AGD) of male fetuses and increase in the incidence of fetuses with undescended testes at 500 mg/kg and higher. MBuP on days 15,17 of pregnancy caused a decreased male AGD and increased incidence of fetuses with undescended testes at 250 mg/kg and higher. No effect of DBF and MBuP on the AGD was found in female offspring. The spectrum of fetal malformations, dependence of gestational days of treatment on the manifestation of teratogenicity, and alterations in development of the male reproductive system observed after administration of DBF were in good agreement with those observed after administration of MBuP. These findings suggest that MBuP may be responsible for the induction of developmental toxic effects of DBP. The doses that produced a decrease in the AGD and undescended testes in male offspring were lower than those producing maternal toxicity, fetal malformations after administration during major organogenesis, and embryonic loss. The male reproductive system may be more susceptible than other organ systems to DBP and MBuP toxicity after maternal exposure. [source]

The teratogenic risk of antiepileptic drug polytherapy

Paternal transmission of genetic damage: findings in animals and humans

INTERNATIONAL JOURNAL OF ANDROLOGY, Issue 3 2000
Martin H. Brinkworth
The concept that mutations can be induced in the male germ-line and result in adverse effects in the offspring has achieved only limited acceptance despite considerable theoretical appeal. This is partly because fetal malformations are generally perceived to be induced solely as a result of maternally mediated events during gestation and partly because the low incidence of the end-points concerned make experimental approaches costly and time-consuming. Nonetheless, a substantial body of work relating to the hypothesis has accumulated in the last 20 years, which has never been reviewed in its entirety. A consideration of the available evidence indicates that preconceptional paternal exposure to mutagens (particularly radiation, cyclophosphamide and ethylnitrosourea) can indeed, under certain conditions, have adverse effects on offspring. The results suggest two principal mechanisms by which such effects may be induced: the induction of germ-line genomic instability or the suppression of germ cell apoptosis. [source]

Ethnicity and other factors that may affect the prevalence of echogenic intracardiac foci in the fetus

JOURNAL OF CLINICAL ULTRASOUND, Issue 7 2006
Louis Lim MD
Abstract Purpose. To study ethnicity and other possible factors that may affect the incidence of echogenic intracardiac foci (EIF) when detected via sonographic examination. Materials and Methods. Patients were referred to our institution for sonographic evaluation from a wide range of practice formats, including both private obstetric practices as well as community outpatient clinics. The study protocol included presence or absence of EIF, maternal age, ethnicity, gestational age during the examination, optimal versus suboptimal scans, presence of other fetal malformations and sonographic markers, and presence of chromosomal anomalies. Fetal outcome was ascertained in 90% of the study group. For statistical analysis, the chi-square test and the Student t -test were used. Results. The study group included 1,543 patients who had a fetal anatomy survey between 16 and 24 weeks' gestation. The prevalence of EIF was similar in all 4 ethnic groups (Asian, Hispanic, black, and white). There were 76 cases of EIF,an overall prevalence of 4.9%. Seventy-one of these cases were isolated in the left ventricle, 2 were isolated in the right ventricle, and 3 showed multiple foci. The prevalence of EIF was similar between younger and older patients, early and late gestational age at the time of sonographic examination, and optimal and suboptimal sonograms. Fetuses with EIF had significantly more congenital anomalies and other sonographic markers compared with fetuses without EIF. Conclusions. We did not find any significant difference in the prevalence of EIF among the 4 different ethnic groups. The association between congenital anomalies and other sonographic markers should be studied further. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 34:327,329, 2006 [source]

Fetal Malformations and Folate Metabolism: Review of Recent Evidence

Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence

PRENATAL DIAGNOSIS, Issue 4 2006
Marek Lubusky
Abstract Objectives Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. Methods The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology. Results Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated. Conclusions The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

PRENATAL DIAGNOSIS, Issue 11 2005
Halil Aslan
Abstract We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic examination at 18 weeks' gestation because of a high risk of trisomy 21 in triple test. Prenatal ultrasonography showed tetralogy of Fallot with a diverticular dilatation of the pulmonary artery, flattened brow, complete absence of the right upper limb, hypospadias, oligodactyly (three digits) in left hand and in both feet, and hyperechogenic abdominal foci. Amniocentesis revealed a karyotype of 46,XY[4]/46,XY,,8,+ der(8),t(8;22)(q24.3;q11.21)[2]/45, XY,,22,,8,+ der(8)t(8;22)(q24.3;q11.21)[22]/45,XY,,22,,5,+ der(5)t(5;22)(q35.3;q11.21)[44]. A C-banding and FISH study with a specific centromeric probe (D14Z1/D22Z1) for chromosome 22 was made. In our case, partial monosomy for the regions 22q11.21,22pter, 8q24.3,8qter and 5q35.3,5qter may partially explain the fetal malformations. Copyright © 2005 John Wiley & Sons, Ltd. [source]

Developmental toxicity evaluation of ELF magnetic fields in Sprague,Dawley rats

BIOELECTROMAGNETICS, Issue 4 2003
Moon-Koo Chung
Abstract To identify possible effects of horizontally polarized magnetic field (MF) exposure on maintenance of pregnancy and embryo-fetal development, an MF exposure system was designed and constructed and 96 time-mated female Sprague,Dawley (SD) rats (24/group) received continuous exposure to 60 Hz MF at field strengths of 0 (sham control) and 5, 83.3, or 500 ,T (50, 833, or 5000 mG). Dams received MF or sham exposures for 22 h/day on gestational day 6,20. MF was monitored continuously throughout the study. There were no evidences of maternal toxicity or developmental toxicity in any MF exposed groups. Mean maternal body weight, organ weights, and hematological and serum biochemical parameters in groups exposed to MF did not differ from those in sham control. No exposure related differences in fetal deaths, fetal body weight, and placental weight were observed between MF exposed groups and sham control. External, visceral, and skeletal examination of fetuses demonstrated no significant differences in the incidence of fetal malformations between MF exposed and sham control groups. In conclusion, exposure of pregnant rats to 60 Hz at MF strengths up to 500 ,T during gestation day 6,20 did not produce any biologically significant effect in either dams or fetuses. Bioelectromagnetics 24:231-240, 2003. © 2003 Wiley-Liss, Inc. [source]

Deterioration in cord blood gas status during the second stage of labour is more rapid in the second twin than in the first twin

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 6 2004
Tak-Yeung Leung
Objective To compare in twin pregnancy the rate of deterioration in umbilical blood gas status during the second stage of labour, and to investigate whether the duration of the first twin's delivery has any effect on the blood gas status of the second twin. Design A retrospective study. Setting Department of Obstetrics and Gynaecology in a university teaching hospital. Population Twin pregnancies with both of the twins delivered by normal cephalic vaginal mode, at or beyond 34 weeks of gestation, over a period of seven years. Twins with any maternal or fetal complications including discordant growth, intrauterine growth restriction, intrauterine death, fetal malformations, fetal distress, pre-eclampsia and diabetes were excluded. Methods The first twins' second stage was defined as from the start of maternal pushing to his/her delivery, while the second twins' second stage started after the delivery of the first twin and ended by his/her delivery. The total duration of the second stage was the sum of the above two intervals. The correlations between the first twins' umbilical cord blood gas parameters and the duration of their own second stage, the second twins' umbilical cord blood gas parameters and the duration of their own second stage, as well as that of the total second stage, were studied. Main outcome measures The changes of umbilical arterial pH of each twin with the duration of the corresponding second stage of labour, and the difference among them. Results A total of 51 cases were reviewed. The median gestation at delivery was 37 weeks. The median duration of first twins' second stage was 10 minutes (range 1,75) while that of the second twins' was 10 minutes (range 3,26). The first twins' second stage was inversely correlated with their arterial pH, venous pH and base excess [BE] (P < 0.01). Both the second twins' second stage and the total second stage were inversely correlated with both of their arterial and venous pH and BE (P < 0.01). However, further multiple regression analysis suggested that the correlation of the total second stage with the second twins' cord blood parameters could be solely explained by their own second stage. The rate of reduction in the second twins' arterial pH was 4.95 × 10,3 per minute, and was significantly faster than that of the first twins', which was 1.55 × 10,3 per minute (P < 0.05). Conclusions During normal vaginal delivery, the umbilical cord blood gas status of both the first and the second twins deteriorated with the duration of their corresponding second stages, but the effects are greater in the latter. Furthermore, the duration of the first twins' second stage does not affect the blood gas status of the second twins'. These observations support the postulation of a diminished uteroplacental exchange function after the delivery of the first twin. Close monitoring and expeditious delivery of the second twins are important. [source]

Low incidence of hypertensive disorders of pregnancy in women treated with spiramycin for toxoplasma infection

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 3 2006
T. Todros
Aims Toxoplasma infection in pregnancy is usually treated with long-term administration of the macrolide spiramycin to prevent fetal malformations. We had empirically observed that treated patients seldom developed pregnancy-induced hypertension (PIH), a common and severe disorder of pregnancy whose aetiology and pathogenesis are still debated. Some clinical and experimental data suggest that infection could play a role in its development. Methods To test this hypothesis, we studied a cohort of 417 pregnant women treated with spiramycin because of seroconversion for Toxoplasma gondii and 353 low-risk women who did not take any antibiotic during pregnancy. PIH was defined as blood pressure >140/90 mmHg on two or more occasions, occurring after 20 weeks of gestational age. Results Seventeen (5.2%) women in the control group developed PIH compared with two (0.5%) in the case group. The odds of developing the disease were significantly lower in the treated subjects (odds ratio =,0.092, 95% confidence interval 0.021, 0.399; P < 0.001). Conclusions Our results suggest that antibiotic treatment during pregnancy can reduce the incidence of PIH, thus opening new perspectives in its prevention and therapy. [source]

Effects of 5-fluorouracil on cell cycle arrest and toxicity induced by X-irradiation in normal mammalian cells

CELL PROLIFERATION, Issue 2 2001
U. Nylén
From clinical studies in cancer patients and experimental in vitro studies, there is evidence of an increased cytotoxic effect, and even synergy, when irradiation is combined with 5-fluorouracil (5-FU). The mechanism for this is unclear. Materials and Methods: Mouse fetuses (C3H) have been exposed in vivo to X-irradiation and 5-fluorouracil (5-FU) as single agents or in combination. Cell proliferation, cell cycle progression, fetal survival and incidence of fetal malformations have been studied. Purpose: The aim of this study was to determine possible synergistic cytotoxic effects when 5-FU and ionizing radiation were combined, particularly concerning the regulation of cell cycle progression in proliferating, non malignant mammalian cells in vivo. Results: The combination of low-toxic doses of X- irradiation and 5-FU had a synergistic toxic effect in nonmalignant mouse fetuses in vivo. The cell cycle regulation was perturbed and the radiation-induced G2 -arrest was eradicated by 5-FU during the initial hours. Conclusions: The time for repair of radiation induced DNA-damage is probably reduced, which may explain the increased toxicity of this combination. [source]