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Major Malformations (major + malformation)

Distribution by Scientific Domains

Medical Sciences	52%
Life Sciences	42%

Selected Abstracts

Maternal and neonatal outcomes and time trends of gestational diabetes mellitus in Sweden from 1991 to 2003

DIABETIC MEDICINE, Issue 4 2010
H. E. Fadl
Diabet. Med. 27, 436,441 (2010) Abstract Aims, To determine maternal and neonatal outcomes for women with gestational diabetes mellitus (GDM) in Sweden during 1991,2003, and to compare the outcomes in the two time periods. Methods, This is a population-based cohort study using the Swedish Medical Birth Register data for the period 1991,2003. There were 1 260 297 women with singleton pregnancies registered during this time, of whom 10 525 were diagnosed with GDM, based on a 75 g oral glucose tolerance test. The main diagnostic criteria were fasting capillary whole blood glucose , 6.1 mmol/l and 2 h blood glucose , 9.0 mmol/l. Results, Maternal characteristics differed significantly between the GDM and non-GDM group. Adjusted odds ratios (OR) were as follows: for pre-eclampsia, 1.81 (95% confidence interval (CI) 1.64,2.00); for shoulder dystocia, 2.74 (2.04,3.68); and for Caesarean section, 1.46 (1.38,1.54). No difference was seen in perinatal mortality, stillbirth rates, Apgar scores, fetal distress or transient tachypnoea. There was a markedly higher risk of large for gestational age, OR 3.43 (3.21,3.67), and Erb's palsy, OR 2.56 (1.96,3.32), in the GDM group, and statistically significant differences in prematurity < 37 weeks, birth weight > 4.5 kg, and major malformation, OR 1.19,1.71. No statistically significant improvement in outcomes was seen between the two study periods. Conclusions, Women with GDM have higher risks of pre-eclampsia, shoulder dystocia and Caesarean section. Their infants are often large for gestational age and have higher risks of prematurity, Erb's palsy and major malformations. These outcomes did not improve over time. [source]

Postmarketing surveillance for human teratogenicity: A model approach,

BIRTH DEFECTS RESEARCH, Issue 5 2001
Christina D. Chambers
Background Most congenital defects associated with prenatal exposures are notable for a pattern of major and minor malformations, rather than for a single major malformation. Thus, traditional epidemiological methods are not universally effective in identifying new teratogens. The purpose of this report is to outline a complementary approach that can be used in addition to other more established methods to provide the most comprehensive evaluation of prenatal exposures with respect to teratogenicity. Methods We describe a multicenter prospective cohort study design involving dysmorphological assessment of liveborn infants. This design uses the Organization of Teratology Information Services, a North American network of information providers who also collaborate for research purposes. Procedures for subject selection, methods for data collection, standard criteria for outcome classification, and the approach to analysis are detailed. Results The focused cohort study design allows for evaluation of a spectrum of adverse pregnancy outcomes ranging from spontaneous abortion to functional deficit. While sample sizes are typically inadequate to identify increased risks for single major malformations, the use of dysmorphological examinations to classify structural anomalies provides the unique advantage of screening for a pattern of malformation among exposed infants. Conclusions As the known human teratogens are generally associated with patterns of structural defects, it is only when studies of this type are used in combination with more traditional methods that we can achieve an acceptable level of confidence regarding the risk or safety of specific exposures during pregnancy. Teratology 64:252,261, 2001. © 2001 Wiley-Liss, Inc. [source]

Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation,a randomised controlled trial in 39 572 pregnancies

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 6 2006
S Saltvedt
Objective, To compare the antenatal detection rate of malformations in chromosomally normal fetuses between a strategy of offering one routine ultrasound examination at 12 gestational weeks (gws) and a strategy of offering one routine examination at 18 gws. Design, Randomised controlled trial. Setting, Multicentre trial including eight hospitals. Population, A total of 39 572 unselected pregnant women. Methods, Women were randomised either to one routine ultrasound scan at 12 (12,14) gws including nuchal translucency (NT) measurement or to one routine scan at 18 (15,22) gws. Anomaly screening was performed in both groups following a check-list. A repeat scan was offered in the 12-week scan group if the fetal anatomy could not be adequately seen at 12,14 gws or if NT was ,3.5 mm in a fetus with normal or unknown chromosomes. Main outcome measures, Antenatal detection rate of malformed fetuses. Results, The antenatal detection rate of fetuses with a major malformation was 38% (66/176) in the 12-week scan group and 47% (72/152) in the 18-week scan group (P= 0.06). The corresponding figures for detection at <22 gws were 30% (53/176) and 40% (61/152) (P= 0.07). In the 12-week scan group, 69% of fetuses with a lethal anomaly were detected at a scan at 12,14 gws. Conclusions, None of the two strategies for prenatal diagnosis is clearly superior to the other. The 12-week strategy has the advantage that most lethal malformations will be detected at <15 gws, enabling earlier pregnancy termination. The 18-week strategy seems to be associated with a slightly higher detection rate of major malformations, although the difference was not statistically significant. [source]

Assisted reproductive technologies and birth defects

CONGENITAL ANOMALIES, Issue 2 2005
Kohei Shiota
ABSTRACT In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low birth-weight and other perinatal complications in babies conceived by ART. Further, it was recently reported that IVF and intracytoplasmic sperm injection (ICSI) are associated with imprinting disorders in the offspring such as Beckwith-Wiedemann syndrome and Angelman syndrome. Here we review the human and animal studies investigating the potential risks of ART, and discuss the need for further investigation. [source]

Valproic acid-induced congenital malformations: Clinical and experimental observations

CONGENITAL ANOMALIES, Issue 4 2000
R. Padmanabhan
ABSTRACT With a large number of epileptic women being in the childbearing age group, complications of pregnancy in epileptic patients are of concern. Epileptic women are treated with antiepileptic drugs (AED) whether they are pregnant or not. Contrary to prevailing opinion, recent data suggest that epilepsy per se contributes significantly to birth defects possibly because of the same genetic susceptibility that predisposes to epilepsy. Many of these defects closely resemble those attributed to exposure to AED. The syndromes attributed to various AED also considerably overlap with each other. Valproic acid (VPA) induces several minor and major malformations. The relative risk for spina bifida in VPA exposed pregnancies is nearly 20 times higher than that for the general population and about 10 times higher than that attributed to other anticonvulsants. Fetuses of experimental animals treated with VPA during pregnancy exhibit exencephaly unlike the human offspring in whom VPA induces spina bifida. The cranial and spinal malformations observed in humans and laboratory animals indicate that VPA has a preferentially deleterious effect on the neural crest. Several AEDs including VPA tend to lower maternal plasma folate levels. In view of the beneficial effects of periconceptional folate supplementation in prevention of neural tube defects (NTD), future research should be directed at the role of folate in the possible alleviation of VPA-induced NTD. It is also necessary to continue prospective studies to monitor the old and new AED prescribed and to evaluate the role of interactions between drugs used in combinations. [source]

Maternal and neonatal outcomes and time trends of gestational diabetes mellitus in Sweden from 1991 to 2003

Community-based, Prospective, Controlled Study of Obstetric and Neonatal Outcome of 179 Pregnancies in Women with Epilepsy

EPILEPSIA, Issue 1 2006
Katriina Viinikainen
Summary:,Purpose: This study evaluated obstetric and neonatal outcome in a community-based cohort of women with active epilepsy (WWAE) compared with the general pregnant population receiving modern obstetric care. Methods: We reviewed the total population who gave birth between January 1989 and October 2000 at Kuopio University Hospital. Obstetric, demographic, and epilepsy data were collected prospectively from 179 singleton pregnancies of women with epilepsy and from 24,778 singleton pregnancies of unaffected controls. The obstetric data from the pregnancy register was supplemented with detailed neurologic data retrieved from the medical records. The data retrieved were comprehensive because of a follow-up strategy according to a predecided protocol. Results: During pregnancy, the seizure frequency was unchanged, or the change was for the better in the majority (83%) of the patients. We found no significant differences between WWAE and controls in the incidence of preeclampsia, preterm labor, or in the rates of caesarean sections, perinatal mortality, or low birth weight. However, the rate of small-for-gestational-age infants was significantly higher, and the head circumference was significantly smaller in WWAE. Apgar score at 1 min was lower in children of WWAE, and the need for care in the neonatal ward and neonatal intensive care were increased as compared with controls. The frequency of major malformations was 4.8% (,0.6,10.2%; 95% confidence interval) in the 127 children of WWAE. Conclusions: Pregnancy course is uncomplicated and neonatal outcome is good in the majority of cases when a predecided protocol is used for the follow-up of WWAE in antenatal and neurologic care. Long-term follow-up of the neurologic and cognitive development of the children of WWAE is still needed. [source]

Intracardiac echogenic focus and fetal outcome

JOURNAL OF CLINICAL ULTRASOUND, Issue 9 2010
Geetika Gupta MS
Abstract Background To study the outcome of the fetuses with intracardiac echogenic focus (ICEF). Methods All patients who were found to have one or more ICEF on sonographic (US) examination at our center from January 2007 through January 2009 were included in this retrospective study. ICEF was defined as a discrete area of echogenicity noted in the left or right ventricle, which was as bright as bone. Patients were followed up to know pregnancy outcome. Results Of 762 fetuses evaluated by US, 48 (6.3%) were found to have an ICEF. Thirty-one of these 48 fetuses had an isolated ICEF; 11 had associated major malformations, and the remaining 6 had no major US abnormalities but were found to have other soft markers. Invasive prenatal testing was done in 21 cases for risk factors other than ICEF and was found to be abnormal in two cases. Seven pregnancies were terminated due to associated major malformations. Conclusion The prevalence of ICEF was 6.3%. Of 31 fetuses with an isolated ICEF, outcomes of 28 fetuses are known and all neonates were reported to be normal at birth. Thus we infer that the presence of an isolated ICEF has no adverse effect on outcome of the neonate. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound, 2010 [source]

Postmarketing surveillance of medications and pregnancy outcomes: Clarithromycin and birth malformations,

PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, Issue 7 2000
Carol R. Drinkard MPh PhD
Abstract Purpose This retrospective surveillance study used linked administrative claims data and medical records to determine the rate and types of birth malformations in infants born to women exposed to the antibiotic, clarithromycin (Biaxin®), during the first trimester of pregnancy. Methods Pharmacy and hospital claims from eight geographically diverse health plans were used to identify women who had a delivery claim within 270 days of a clarithromycin prescription over a 5-year period (1991,1995). Hospital delivery admission medical records for 143 mothers and their 149 infants were abstracted to identify birth malformations. Results Five infants were identified with major malformations, three with minor malformations, and four with undescended testicles likely to resolve with time. The observed rate of 3.4% (95% CI, 0.5, 6.3) for major malformations was not statistically significantly different compared to an expected rate of 2.8% based on earlier national data. There was no consistency across types of major malformations. Conclusions These results provide no evidence that clarithromycin is a likely major teratogen in humans. Use of claims data is one way to evaluate quickly and efficiently the safety of prescription medications in humans during pregnancy, especially when both exposure and outcome are rare. Copyright © 2000 John Wiley & Sons, Ltd. [source]

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly

PRENATAL DIAGNOSIS, Issue 3 2005
Claudio Celentano
Abstract Objective Isolated elevations in midtrimester maternal serum human chorionic gonadotrophin concentrations (MShCG) have been reported to be associated with a substantially increased likelihood of fetal congenital malformations. The reported malformations included a wide range of organ systems, originating at different embryologic developmental stages. The purpose of our study was to determine the significance of an isolated elevated MShCG (>2.5 MoM) in midtrimester for the detection of fetal structural anomalies in a large population. Methods Among 10 144 women who underwent a biochemical triple screen at 15 to 18 weeks' gestation, 463 patients, who had an elevated MShCG, but normal ,-fetoprotein (AFP) and unconjugated estriol (uE3) levels, were identified. Patients with an integrated calculated Down syndrome risk above 1:250 were excluded. Only nonsmokers, at ages <35 years, without a history of prior fetal anomalies were included. The control group consisted of 463 patients with normal serum analyte concentrations and Down syndrome risks below 1:250, who were matched for maternal age and date of biochemical screen. All patients underwent a detailed genetic sonogram in which an anatomic survey and multiple ,soft markers' for aneuploidy were looked for. Newborns were examined by a senior pediatrician trained in dysmorphology. Results MShCG levels were 3.18 ± 0.72 versus 0.99 ± 0.43 MoM (p < 0.0001) in study and control groups respectively. Sonography revealed 8 versus 6 cases of major congenital anomalies among the 463 patients of their respective groups, and 39 versus 36 sonographic ,soft markers' for aneuploidy. Fetal karyotyping and neonatal examination for dysmorphology revealed 6 chromosomal anomalies (4 Down syndrome; 2 Turner syndrome) among the 8 major malformations in the study group, but none in the controls (p < 0.0001). Three of the 39 fetuses with ,soft markers' and elevated MShCG were found to have trisomy 21. Conclusion Isolated elevation of MShCG does not confer an increased risk of fetal congenital anomalies other than chromosomal abnormalities. However, elevated MShCG levels in combination with sonographic ,soft markers' for aneuploidy were associated with a high incidence of chromosomal anomalies, despite a normal biochemical triple screen risk estimate. Copyright © 2005 John Wiley & Sons, Ltd. [source]

Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2002
Maik Urban
Abstract Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chromosome 6. In one fetus, the disorder was diagnosed incidentally by a routine amniocentesis due to advanced maternal age. The other two fetuses were hydrocephalic and had other congenital anomalies. Remarkably, the ring chromosome 6 tends to disappear in cultured amniotic fluid cells; karyotyping revealed complete or nearly complete monosomy 6. In contrast, the ring was preserved in high proportions of fetal leukocytes. Postnatal growth retardation is the only consistent finding of this chromosomal disorder. Maternal age is not significantly above average. An additional review of 20 literature cases revealed a striking tendency to hydrocephalus, either due to deficient brain growth or secondary to an aqueductal stenosis. Children with hydrocephalus and ring chromosme 6 tend to display facial dysmorphism and may have additional malformations, growth failure, eye anomalies, and seizures. In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development. In such patients at the mild end of the clinical spectrum, the phenotype is basically restricted to what Kosztolányi. [1987: Hum Genet 75:174,179] delineated as "ring syndrome," comprising "severe growth failure without major malformations, without a specific deletion syndrome, with only a few or no minor anomalies, and mild to moderate mental retardation." This "ring syndrome" is considered to occur independently of the autosome involved in the ring formation. The overall impression from our cases and from the literature review of cases with ring chromosome 6 is that the karyotype-genotype correlation is poor. This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis. © 2002 Wiley-Liss, Inc. [source]

S03.4: Associations between childhood cancer and major malformations: Analysis of 36.874 newborns of the birth registry Mainz Model

BIOMETRICAL JOURNAL, Issue S1 2004
Gabriela Stolz
No abstract is available for this article. [source]

Decongestant use during pregnancy and its association with preterm delivery

BIRTH DEFECTS RESEARCH, Issue 9 2010
Rohini K. Hernandez
Abstract BACKGROUND Despite the frequent intake of decongestants during pregnancy, only one study to date has evaluated the association of decongestants with preterm delivery, and it identified a reduced risk. We examined this association in more detail. METHODS Using a population-based random sample of 3271 Massachusetts live-born births without major malformations, we categorized decongestant exposure according to timing, frequency of use, route, and indication. Preterm birth was defined as a gestational age of <37 completed weeks. We estimated hazard ratios and examined confounding by indication by examining various strata of women and through multivariate adjustment. RESULTS Compared to nonexposed women, those who took decongestants during the second or third trimester only were less likely to experience preterm delivery (HR, 0.42; 95% CI, 0.21,0.84). This association was observed only for women without preeclampsia. CONCLUSIONS A protective association between decongestant use and preterm delivery has now been observed in two studies; however, the possibility of confounding by underlying condition remains. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source]

Is lack of morning sickness teratogenic?

BIRTH DEFECTS RESEARCH, Issue 8 2004
A prospective controlled study
BACKGROUND Case-control studies have suggested that the nausea and vomiting of pregnancy (NVP) may have a protective effect against specific malformations. These suggestions have been interpreted as if the lack of NVP may put mothers at an increased teratogenic risk. METHODS A prospective, cohort-controlled study was done comparing pregnancy outcome in women not experiencing NVP with those experiencing NVP at two levels of clinical severity. Women who called the Motherisk program about first-trimester exposure to drugs and who had not experienced NVP were included as the study group. The NVP Healthline enrolled two control groups of women with NVP treated with a doxylamine-pyridoxine combination for morning sickness. These women were exposed during the first trimester of gestation to either higher than the standard dose (5,12 tablets/day) or a standard dose (1,4 tablets/day) of doxylamine-pyridoxine. The women in all three groups were followed up four to six months after the expected date of birth to ascertain pregnancy outcomes and child health. RESULTS There were no major malformations among offspring of 130 women not experiencing NVP. There were two major malformations among 246 women experiencing NVP. The two control groups of women with NVP had similar distributions of gestational ages, birth rates, as well as rates of miscarriages and stillbirths, as in the no-NVP group. CONCLUSIONS This study did not show an association between lack of NVP and an increase in the overall rates of major malformations. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc. [source]

Postmarketing surveillance for human teratogenicity: A model approach,

Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation,a randomised controlled trial in 39 572 pregnancies

Perinatal mortality: clinical value of postmortem magnetic resonance imaging compared with autopsy in routine obstetric practice

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 4 2003
Marianne E. Alderliesten
Objective To compare postmortem magnetic resonance imaging (MRI) with autopsy in perinatal deaths. To determine the acceptance and feasibility of postmortem perinatal MRI. Design Cohort study. Setting Large teaching hospital. Population Fetuses and neonates from 16 weeks gestational age until 28 days after birth, stillbirths as well as intrapartum and neonatal deaths. Methods MRI was performed prior to autopsy in a consecutive cohort of perinatal deaths after full parental consent. Agreement between MRI and autopsy was calculated. The consent rate for both examinations was recorded separately, as well as the time between the perinatal death and the MRI. Main outcome measure Full agreement between MRI and autopsy. Results Of 58 cases, 26 parents consented to both examinations (45%). Autopsy showed 18 major malformations, of which 10 were detected with MRI. The positive predictive value of MRI was 80% (4/5) and the negative predictive value was 65% (13/20). Additional consent for MRI was given in eight cases (14%). In 84%, the MRI could be performed within 48 hours. Conclusions MRI is of value if autopsy is refused, but diagnostic accuracy is insufficient to recommend substitution of full autopsy. The acceptance rate of MRI only is better than that of autopsy. [source]

First trimester exposure to cefuroxime: a prospective cohort study

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 2 2000
Matitiahu Berkovitch
Aims There are no published studies on the safety of cefuroxime use during pregnancy. We therefore investigated prospectively the possible teratogenic effect of intrauterine exposure to cefuroxime. Methods One hundred and six women who received cefuroxime during the first trimester of pregnancy were recruited from three teratogen information centres in Israel. Exposed women were paired for age, smoking habits and alcohol consumption with references being exposed to nonteratogenic antibiotics administered for the same indications. Results Maternal history, birthweight, gestational age at delivery, rates of live births, spontaneous abortions and fetal distress were comparable among the two groups. Rates of major malformations in the cefuroxime group (3.2%) did not differ from references (2%) (P = 0.61, relative risk = 1.56, 95% confidence interval 0.27,9.15). There was a significantly higher rate of induced abortions among the cefuroxime exposed women as compared to the references (P = 0.04, relative risk = 3.33, 95% confidence interval 0.94,11.77). Conclusions Our data may suggest that exposure to cefuroxime during the first trimester is probably not associated with an increased risk for malformations or spontaneous abortions; however, in light of the small sample size and the broad confidence limits, larger studies are needed to confirm these findings. [source]

Growth and neurodevelopment outcome of very low birth weight infants delivered by preeclamptic mothers

ACTA PAEDIATRICA, Issue 12 2007
Rita C Silveira
Abstract Aim: To investigate growth and neurodevelopment outcome of very low birth weight (VLBW) infants delivered by preeclamptic mothers. Methods: A cohort including all VLBW infants delivered between December 2003 and May 2005 was followed up to 12 and 18 months corrected age (CA). Exclusion criteria: death before 1 year corrected age, major malformations, deafness and blindness. Weight, length and head circumference were plotted on NCHS curves. Bayley Scales were performed at 12 and 18 months CA. Results: 40 infants in preeclamptic and 46 in control groups were studied. Birth weight and gestational age were 1148 g ± 236 and 1195 g ± 240, and 31.3 weeks ± 1 and 30.6 weeks ± 2 for preeclamptic and control groups, respectively. At 12 and 18 months, CA, weight for age (Z score) was significantly higher in control than in preeclamptic. PDI scores were higher in preeclamptic than in controls at 18 months CA. Conclusions: Catch-up of body weight did not occur in the first 18 months CA in preeclamptic infants. Neurodevelopment outcome was better in infants delivered by preeclamptic mothers than in controls at 18 months CA. [source]