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Results 401 - 450 of 1012
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Forrester M B - - 2001
This investigation evaluated the impact of collecting data on early fetal deaths (less than 20 weeks' gestation) on a birth defects surveillance system. Data were obtained from the Hawaii Birth Defects Program (HBDP), a statewide registry for Hawaii with active case ascertainment methodology. In 1986 through 1997, 257 early fetal ...
Reddy V M - - 2001
Congenital heart defects in low birth weight infants are typically managed with supportive therapy or palliative surgery and definitive repair is delayed. However, the morbidity of this approach has been shown to be high. At the University of California San Francisco, our approach to these infants has been one of ...
Rasmussen S A - - 2001
Effective coding is critical to data collected by birth defects surveillance programs because subsequent use of the data depends on storage and retrieval of cases using codes. Hence, careful consideration needs to be given to the coding process. The primary goal of coding is to accurately, completely, and concisely represent ...
Subramanyan R - - 2000
We analysed the incidence and spectrum of congenital heart disease (CHD) in the Sultanate of Oman from 1994 to 1996. CHD was detected in 992 of 139,707 live births (incidence 7.1/1000 live births). The common CHDs were ventricular septal defect (24.9%), atrial septal defect (14.4%) and patent ductus arteriosus (10.3%). ...
Felix J F - - 2000
This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association between birth defects and newborn encephalopathy was found ...
Caksen H - - 2000
Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is presented. The patient was hospitalized and ...
Hernández-Díaz S - - 2000
BACKGROUND: Multivitamin supplementation in pregnant women may reduce the risks of cardiovascular defects, oral clefts, and urinary tract defects in their infants. We evaluated whether the folic acid component of multivitamins is responsible for the reduction in risk by examining the associations between maternal use of folic acid antagonists and ...
Martínez-Frías M L - - 2000
Anal atresia (AA) is observed per se or as part of different Mendelian or chromosomal syndromes, and as part of the VACTERL primary developmental field, CHARGE association, cloacal extrophy, in a mitochondrial cytopathy, and other multiple congenital anomaly patterns. There are only a few studies on the defects associated with ...
Meberg A - - 2000
In a population-based study including 35,218 infants born alive during the 15-y period 1982-96, 360 (1%) were diagnosed as having a congenital heart defect (CHD). At a follow-up 3-18 y after birth (median 9.5 y) 154 patients (42.8%) were spontaneously cured; of these, 142 (92.2%) had ventricular septal defects (VSDs). ...
Waller D K - - 2000
BACKGROUND: Estimates of the proportion of birth defects diagnosed before birth exist for only a few types of birth defects and for a few geographic regions in the United States. This population-based study examines rates of prenatal diagnosis for previously unstudied birth defects in a new geographic region. METHODS: Active ...
Kitchanan S - - 2000
OBJECTIVE: To study neonatal outcomes associated with gastroschisis and exomphalos in a regional neonatal unit. METHODS: A retrospective (1988-97) data analysis to study the effect of the type of defect/surgery, mode/place of delivery and associated anomalies on time to start and reach full feeds, duration of total parental nutrition (TPN) ...
Strom C M - - 2000
CONTEXT: Our center developed the technique of preimplantation genetic diagnosis (PGD) by sequential polar body removal (PBR) for the diagnosis of Mendelian disorders and aneuploidies. This study examines the obstetric and neonatal outcome of the first 109 live births after PGD by PBR. OBJECTIVE: To determine if there were any ...
Araneta M R - - 2000
BACKGROUND: Gulf War veterans (GWVs) have expressed concern about possible teratogenic exposures. However, epidemiologic studies on birth defects prevalence among their progeny have been limited to military hospitals, anomalies diagnosed among newborns, or self-reported data. To measure the prevalence of selected birth defects among infants of GWVs and nondeployed veterans ...
Stevenson R E - - 2000
OBJECTIVES: To conduct surveillance for neural tube defects (NTDs) in a high-risk region of the United States and to prevent occurrence and recurrence of NTDs through the periconceptional use of folic acid supplements. DESIGN: Active and passive methods were used for surveillance of NTD-affected pregnancies and births during a 6-year ...
Dame C - - 2000
The story of the developmental changes in erythropoiesis is the history of oxygenation in the developing organism. The individual components of the switch from embryonic to adult erythropoiesis are developmentally regulated, and their interaction with one another is complex. Basic defects, such as absence of Epo production, lead to early ...
Martínez-Frías M L - - 2000
Stenosis, atresia, or absence of part of the duodenum, jejunum, or ileum are generally considered small intestinal atresias (SIAs). SIAs occur as isolated defects, in combination with other unrelated congenital anomalies, or as part of syndromes. We performed an epidemiological study of infants with isolated SIAs using data from two ...
Ferry R J RJ - - 2000
To identify infants with hyperinsulinism caused by defects of the beta-cell adenosine triphosphate-dependent potassium channel complex and to distinguish focal and diffuse forms of hyperinsulinism caused by these mutations. The acute insulin response to intravenous calcium stimulation (CaAIR) was determined in 9 patients <20 years with diffuse hyperinsulinism caused by ...
Forrester M B - - 2000
Neural tube defects (NTDs) in Hawaii between 1986 and 1997 were examined using data from a statewide birth defects surveillance system. The prevalence increased significantly over the twelve-year period. NTD prevalence did not appear to vary by place of residence. The relationship of type of defect, maternal age, and infant/fetus ...
Rosano A - - 2000
Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We ...
Ogunyemi D - - 2000
OBJECTIVE: To determine the accuracy of anomalies detection and to evaluate the role of maternal-fetal medicine (MFM) specialists. METHODS: This was a retrospective study of birth defects. Patients were divided into: 1) if ultrasound was reviewed by MFM specialists; 2) Others, if reviewed by other ultrasonologists. Fisher's exact test or ...
Zheng C J - - 2000
The offspring of older parents are at a higher risk of suffering low birth weights and congenital birth defects that result from mutations and chromosomal anomalies. When the defect is paternal in origin, it often can be shown that the primary lesion arose during mitotic proliferation of the spermatogonial germ ...
Engel L S - - 2000
OBJECTIVES: This study examined the association between maternal occupational exposure to agricultural chemicals and the risk of limb defects among offspring. METHODS: A retrospective cohort study was conducted using Washington State birth records for the years 1980 through 1993. The exposed group, consisting of 4466 births to mothers employed in ...
Shaw G M - - 2000
BACKGROUND: A twofold or greater risk of neural tube defect (NTD)-affected pregnancy has been associated with prepregnant obesity, where obesity was defined as body mass index (BMI) of >29 kg/m(2). Risks have been more elevated for spina bifida than for anencephaly. METHODS: We investigated whether finer phenotypic classifications of spina ...
Reynolds M - - 2000
Management strategies for infants with very low birth weight (VLBW) who have abdominal wall defects essentially are the same as for those in larger infants. The authors favor primary closure in infants with gastroschisis, and have achieved this goal in 91% of infants since 1985. Treatment of infants with omphalocele ...
Martínez-Frías M L - - 2000
The presence of body wall defects with "evisceration" of thoracic and/or abdominal organs associated with other congenital anomalies, with or without limb deficiencies, is considered to be the body wall complex (BWC). The BWC is different from gastroschisis, which is usually a small body wall defect lateral to the umbilical ...
Wren C - - 2000
OBJECTIVE: To investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare "anatomical" and "physiological" diagnostic hierarchies within a population. DESIGN: Retrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy. SETTING: The resident population of one health region. PATIENTS: All infants ...
Ecker J L - - 2000
Outcomes of pregnancies with sonographically diagnosed Dandy-Walker (DW) or Dandy-Walker variant (DWV) syndromes vary widely. We examined our own experience with these diagnoses in an effort to identify those sonographic features that best predicted neonatal outcome. We identified 50 fetuses with DW and 49 with DWV diagnosed sonographically. Eighty-six per ...
Folkerth R D - - 2000
Inborn metabolic errors causing lysosomal storage, such as beta-galactosidase deficiency (G(M1) gangliosidosis [G(M1)]), have well-recognized effects on cellular function and morphology. In some classically "neuronal" storage diseases, including G(M1), neuroradiologic observations of infants have suggested a delay in myelination on the basis of persistently "immature" signal intensities monitored over time. ...
Tongsong T - - 2000
Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because of premature labor. Sonography revealed a live fetus with ...
Carmichael S L - - 2000
We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone ...
Forrester M B - - 2000
Holoprosencephaly is a birth defect affecting the medial structures of the brain and face. This investigation examined the epidemiology of holoprosencephaly in Hawaii between 1986 and 1997, using data obtained from a birth defects registry, and compared the results with those of other population-based studies. Twenty-five cases were identified, producing ...
George E - - 2000
The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a non-consanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three ...
Suita S - - 2000
BACKGROUND/PURPOSE: The incidence of gastroschisis has increased over the past 3 decades in a number of countries. To elucidate the Japanese status of anterior abdominal wall defects, the Japanese Society of Pediatric Surgeons conducted a national survey in Japan. METHODS: Information was obtained by sending out a questionnaire to 192 ...
McDonnell R J - - 1999
STUDY OBJECTIVE: The objective of the study was to describe the epidemiology of neural tube defects (NTD) in the eastern region of Ireland using the EUROCAT register of congenital malformations. DESIGN, SETTING AND PATIENTS: EUROCAT registries monitor the prevalence of congenital anomalies in defined populations using multiple sources for case ...
Heinonen P K - - 1999
A retrospective analysis of 467 births among 255 women with uterine malformations revealed that three (0.64%) newborns had limb reduction defects. Two women had a subseptate uterus and one a complete septate uterus with a longitudinal vaginal septum. One newborn had a bilateral split hand and split foot, one had ...
Allan L D - - 1999
OBJECTIVE: I sought to study the spectrum of disease and outcome seen with atrioventricular septal defect in fetal life and to analyze the current rate of prenatal detection of this malformation. STUDY DESIGN: All cases of atrioventricular septal defect detected prenatally or in infants were ascertained between 1994 and 1998. ...
Martínez-Frías M L - - 1999
OBJECTIVE: The objective of this study was to identify maternal and infant characteristics related to alteration of amniotic fluid volume at birth. STUDY DESIGN: A series of 27,145 consecutive malformed newborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC) was analyzed. From this total, 3.01% were found to ...
Werler M M - - 1999
It is widely accepted that supplementation with folic acid, a B vitamin, reduces the risk of neural tube defects (NTDs). This case-control study tested the hypothesis that multivitamins reduce risks of selected birth defects other than NTDs. Infants with and without birth defects and aborted fetuses with birth defects were ...
Enns G M - - 1999
Cyclophosphamide (CP) is an alkylating agent widely used in treating cancer and autoimmune disease. CP is classified as a pregnancy risk factor D drug and is teratogenic in animals, but population studies have not conclusively demonstrated teratogenicity in humans. Six isolated reports of prenatally exposed infants with various congenital anomalies ...
Forrester M B - - 1999
The various types of abdominal wall defects are considered to differ in their etiologies, a hypothesis suggested by differences in their epidemiologies. This study examined the impact of selected demographic factors on abdominal wall defects (omphalocele, gastroschisis, and body stalk anomaly) included in a birth defects registry in Hawaii from ...
Honein M A - - 1999
OBJECTIVES: This study assessed the sensitivity of the Metropolitan Atlanta Congenital Defects Program (MACDP) by capitalizing on the delayed receipt of a data source. METHODS: In 1997, we reviewed the medical records of potential cases from the 1995 birth certificates that had not previously been identified by the MACDP. Capture-recapture ...
Bove K E - - 1999
Mesoblastic nephroma, a benign tumor, is the most common renal neoplasm in neonates. Wilms' tumor (WT) may occur in newborn infants, but is more common in older children. The molecular genetics of WT involves one or more genes located on Chromosome #11 and probably other locations not yet elicidated. Germline ...
Classen D A - - 1999
This report describes a healthy infant born with an isolated, truncal cutis aplasia defect in association with a fetus papyraceous. Effective healing of the cutaneous defect occurred over the course of a month. A 2-year follow-up demonstrate stable wound coverage. This rare association of aplasia cutis congenita, with a fetus ...
Rankin J - - 1999
The aim was to describe trends in prevalence, maternal age-specific prevalence, associated anomalies, clinical outcomes and the sensitivity of antenatal diagnosis of congenital anterior abdominal wall defects (in particular gastroschisis and exomphalos). Data were identified from a population-based register of major congenital abnormalities in the Northern health region of England, ...
Sands A J - - 1999
AIMS: To quantify the incidence of ventricular septal defect in "low-risk" neonates; and to define any associated risk factors. METHODS: One hundred and seventy three patients with ventricular septal defects from a scanned population of 3971 clinically normal neonates were compared with scanned controls, considered to be clinically normal. A ...
Lundell K H - - 1999
Growth retardation is common in infants with congenital heart defects. The aim of this study was to investigate whether growth retardation or type of heart defect in infants with congenital heart defects is related to disturbances in lipid metabolism. Sixteen infants with ventricular septal defects and six infants with transposition ...
Tunçbilek E - - 1999
The aim of the study was to determine the prevalence rate and risk factors relevant to neural tube defects (NTDs) in Turkey. All livebirths and stillbirths recorded at the university hospitals throughout Turkey between July 1993-June 1994 were evaluated with respect to congenital anomalies. For each birth, information was recorded ...
Martínez-Frías M L - - 1999
Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation ...
Lin A E - - 1999
Through an ongoing hospital-based active malformation surveillance program, we identified cardiovascular malformations (CVMs) in 3.3 per 1,000 liveborn and stillborn infants, and fetuses from pregnancies terminated electively during a 15-year period. We excluded the children of mothers who had planned delivery elsewhere, but were transferred for care of anomalies that ...
Lieff S - - 1999
We compared four methods of control selection to assess the effect of using infants with malformations as controls in case-control studies of birth defects. We identified cases and controls using data from the Slone Epidemiology Unit Births Defect Study for the years 1976-1992. Cases were defined as infants with cleft ...
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