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PubMed1990

Fatal malformations in Jamaica.

Babies with major malformations were identified during the Jamaica Perinatal Morbidity and Mortality Survey. They were found in 96 (8.6%) of 1112 perinatal and neonatal deaths coming to necropsy and in 28 (2.6%) of 1085 no so examined. The central nervous system was most commonly affected, followed by the renal, gastrointestinal, and cardiovascular systems in decreasing order of frequency. Many infants had abnormalities in more than one system and 10 malformation syndromes/sequences were identified. Although at the present time, major malformations make only a small contribution to perinatal and neonatal mortality in Jamaica, their importance will increase when deaths from other causes, such as birth asphyxia, decline. The type of malformation currently fatal in a particular population is relevant when planning diagnostic and surgical services for neonates and infants. It is also important to any discussions about provision of prenatal diagnostic services.

Abnormalities, Multiple↗
PubMed1998

Frequency and nature of structural anomalies in fetuses with single umbilical arteries.

Published studies differ concerning the rate of anomalies occurring in the presence of a single umbilical artery and the significance of the single umbilical artery as an isolated sonographic finding. We assessed the frequency, nature, and sonographic detection of structural anomalies in fetuses with a single umbilical artery. We identified all cases in which prenatal sonography diagnosed a single umbilical artery. Cases were excluded if postnatal physical or pathologic examination demonstrated a three-vessel cord, yielding a study population of 167 cases. For each case, we recorded the gestational age at diagnosis of single umbilical artery and the findings of the sonographic fetal anatomic survey. We recorded postnatal clinical and pathologic information when available. Gestational age at time of diagnosis ranged from 16.8 to 41.1 weeks (mean, 29.2 +/- 6.5 weeks). Twenty of the 167 fetuses (12%) were twins, and the remainder were singletons. Among 118 cases with postnatal information, 37 (31%) had structural abnormalities, often involving multiple organs. The most common organ systems involved were the heart (19 cases) and the gastrointestinal (14 cases) and central nervous systems (nine cases). Five of the anomalous fetuses had abnormal karyotypes. The sonographic survey was abnormal in 31 of the 37 anomalous fetuses (84%). Among 85 cases with apparently isolated single umbilical artery at sonography and known fetal outcome, six (7%) proved to be anomalous at birth. We had two sonographic false-positive results (mild hydronephrosis, suspected skeletal dysplasia). In summary, approximately one third of fetuses with single umbilical artery have structural anomalies, most often cardiac. Even when the single umbilical artery is an apparently isolated sonographic finding, the likelihood that the neonate will prove to have structural anomalies is considerable (7% in our series).

Cardiovascular Abnormalities↗
PubMed1975

Congenital malformations in twins: epidemiologic survey.

Among 1195 twins born in the Collaborative Perinatal Project, for whom information was available, 219 (18.33%) were found to have malformations, 179 (14.98%) single and 40 (3.35%) multiple. The frequency of malformations and malformed individuals was significantly higher in twins than in singletons from the same population but the difference was entirely contributed by MZ twins. This held true for both major and minor malformations. There was no significant difference in the frequency of multiple malformations. Negro twins were more frequently malformed than white, and male twins were more frequently malformed than female. Twins had a significant, more than two-fold, increase of cardiovascular and alimentary tract malformations, and smaller increases of central nervous system, musculoskeletal, ear, and respiratory malformations over singletons. Significantly increased among specific malformations were macrocephaly, encephalocele, cleft lip and palate, anomalies of the diaphragm, cardiac septal defects, tracheoesophageal fistula, malformations of the alimentary tract, inguinal and umbilical hernias, and cystic kidney. A significant increase of malformations in twins over singletons occurred only in live births who survived to one year. There was a small but not significant increase of malformations in twin fetal deaths and deaths beyond the neonatal period; but among neonatal deaths, twins were less frequently malformed than singletons. Monoamniotic twins had higher mortality, more complications of delivery, and significantly more congenital malformations than diamniotic twins. One of the 9 pairs of MA twins in the study was a conjoined thoracopagus twin pair with multiple cardiovascular, alimentary, and other malformations. The case is interesting because of the medical history of the mother before and during pregnancy, and its possible bearing on the cause of MZ twinning and of congenital malformations. There was no difference in the frequency of malformations among first- and second-born twins. Concordance rates were significantly higher among MZ than among DZ twins for any malformation as well as for the categories of major, minor, single and multiple malformations. In the majority of cases, the twins were concordant for the same malformation. Concordance rates of MZ twins were consistently higher than those of DZ for all systems, but the difference was significant only for the musculoskeletal system, comprising mostly clubfoot. Because of the small numbers involved, the results of the concordance analysis should be interpreted with caution.

Amnion↗
PubMedDate not supplied

Major congenital malformations in neonates at U.T.H. Lusaka Zambia.

The incidence of major congenital malformations in U.T.H., Lusaka during 1976 is reported. The incidence of some common major malformations are compared with the other series. Central nervous system and Alimentry system malformations were most frequent. The relative low incidence of anencephaly and cleft lip and palate in African newborns is confirmed.

Abnormalities, Multiple↗
PubMed1975

Factors affecting risks of congenital malformations. II. Effect of maternal diabetes on congenital malformations.

The effect of maternal diabetes on the risk of congenital malformations was investigated in 23,695 pregnancies of white mothers, inclucing 339 patients of the Joslin Clinic, and in 24,742 pregnancies of Negro mothers, drawn from the prospective Collaborative Perinatal Project. Of these, 372 mothers had gestational diabetes and 567 had overt diabetes (before and during pregnancy). Pregnancy outcomes studied included stillbirths and live births. Among core women (excluding the Joslin Clinic cases), the frequencies of diabetic pregnancies were 1.31% and 1.18% for white and Negro mothers, respectively; in both groups, approximately two thirds of these pregnancies had gestational diabetes. There was no increase in malformation risk in the pregnancies of mothers with gestational diabetes over that of nondiabetic mothers in either racial group. However, the risk of malformation for white mothers with overt diabetes was double that of nondiabetic mothers for both major and minor categories of malformations. The incidences of major and minor types of malformations in the pregnancies of white mothers with overt diabetes were 17.94% and 10.94%, respectively, compared to the corresponding incidences of 8.34% and 6.25% for the white nondiabetic group. In Negro mothers with overt diabetes, a smaller increase of risk was seen only in major malformations; the incidences were 13.64% and 8.45% for the diabetic and nondiabetic groups, respectively. The increased risks for malformations were distributed generally throughout the organ systems. Multiple malformations occurred more frequently in the overt diabetic than in the nondiabetic group, suggesting that maternal diabetes must act adversely an an early stage of fetal development. Two cases with the caudal regression syndrome were observed in children of diabetic mothers, whereas none was found among births from nondiabetic mothers. Insulin (or analog) therapy of diabetes neither decreased nor increased the risk of malformation in the fetus. However, duration of diabetes had a significant effect on the malformation risk: the longer the mother had the disease, the higher was the incidence of malformations in the fetus. Paternal diabetes did not contribute to increase in risk. These observations suggest that maternal diabetes per se, through its adverse effects on maternal metabolism, is the responsible factor for the increase of malformations in the offspring.

Central Nervous System↗
PubMed1995

Congenital anomalies in rural black South African neonates--a silent epidemic?

STUDY OBJECTIVE: To ascertain the incidence and spectrum of congenital anomalies in neonates born in a rural hospital. DESIGN: This was a prospective, hospital-based study, undertaken on liveborn neonates over the period 12 June 1989 - 31 December 1992. SETTING: Mankweng Hospital, Sovenga, Northern Transvaal. MAIN RESULTS: Of a total of 10,380 neonates born during this period, 7,617 (73.4%) were examined within the first 24 hours of life. On the basis of published observations, only 26.2% of severe congenital anomalies diagnosable by age 5 years are diagnosable at birth. In this South African study the finding at birth of severe, externally visible congenital anomalies in 14.97 per 1,000 livebirths could mean that by age 5 years the minimum cumulative incidence of severe congenital anomalies may involve 57.14 per 1,000 children. Extrapolating from other Third-World studies, the cumulative incidence of severe congenital anomalies in such communities may affect up to 84.85 per 1,000 children by the age of 5 years. High incidences of neural tube defects (3.55 per 1,000 livebirths) and Down syndrome (2.10 per 1,000 livebirths), both conditions which can be prevented by prenatal screening, were recorded. CONCLUSIONS: These figures indicate the necessity for inclusion of appropriate prenatal, genetic, family planning and paediatric facilities into the primary health care delivery system of rural areas, to manage such problems and to initiate programmes to reduce the incidence of selected congenital anomalies such as Down syndrome and neural tube defects.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five-year study of 20,248 newborn fetuses and infants.

Antenatal ultrasound screening for birth defects is increasingly becoming a routine procedure of prenatal care. Prenatal detection of malformations and subsequent adjustment of obstetric management are essential for secondary prevention. It is unknown whether ultrasound screening is effective in all pregnant women, or should only be performed in high risk populations. From 1990-1994, 20,248 livebirths, stillbirths and abortions underwent physical and sonographic examinations and anamnestic data were collected. To identify the high risk group, case control analyses of births with one of the 23 selected major malformations (controls) were performed with respect to anamnestic risk factors. All women had at least three routine ultrasound scans. The selected malformations were diagnosed in 298 children; 95 (30.3 per cent) were diagnosed antenatally. Detection rates were: CNS (68.6 per cent), gastro-intestinal tract (42.3 per cent), urinary system (24.1) per cent), heart (5.9 per cent). Complications during pregnancy were calculated as indicators of congenital anomalies: premature labour (< 28 week) OR 4.7 (3.8-5.9), placental insufficiency OR 1.9 (1.1-2.7) and vaginal bleeding OR 1.5 (1.2-1.8), etc. Antenatal routine ultrasound screening is not effective risk populations. Anamnestic risk factors risk factors during pregnancy may be essential indicators for identifying high risk populations. We propose screening of the described high risk pregnancies (about 22 per cent of all pregnancies) to be performed by specially trained and highly experienced ultrasonographers to increase sensitivity rates and benefit cost effectiveness.

Central Nervous System↗
PubMed1988

Duplications of the alimentary tract. Clinical characteristics, preferred treatment, and associated malformations.

Duplications of the alimentary tract are unusual congenital anomalies that frequently present a diagnostic as well as therapeutic challenge to the surgeon. Because these lesions occur so infrequently, they are often not suspected until encountered intraoperatively. Due to the complicated anatomy and common blood supply shared between the duplication and associated native bowel, appropriate management requires a familiarity with the anatomy and clinical characteristics of this entity. To better define the range of patient characteristics, clinical presentation, and preferred therapy, 20 enteric duplications were reviewed in 17 patients treated at the Children's Hospital Medical Center from 1956 to 1986. Ages of patients ranged from 1 day to 11 years; 60% were less than 2 years of age at initial presentation. Seven duplications in six patients involved alimentary tract structures of foregut derivation (esophagus, stomach, and Parts I and II of duodenum), with a predominance of girls (4 of 6). Most of these patients (67%) presented with moderate to severe acute respiratory distress and a mass present on chest radiograph. In 67% of the patients, the correct diagnosis was established before operation. None required emergency operative intervention. By contrast, 13 duplications in 11 patients were of midgut or hindgut derivation (Parts III and IV of the duodenum, jejunum, ileum, and colon). In this group of patients, 62% of the duplications involved the cecum, 23% involved the ileum, and 16%, the jejunum. Seventy-eight per cent of the patients were boys. The most common symptoms were nausea and vomiting, and the most common sign was a palpable abdominal mass. Emergency operative intervention was required of eight of 11 patients with duplications involving the small bowel and colon. Three patients presented with an intussusception, four with signs and symptoms consistent with acute appendicitis, one with a small bowel obstruction, and two with gastrointestinal hemorrhage due to the presence of ectopic gastric mucosa within the duplication. It was found that two important points must be considered in regard to the management of enteric duplications: (1) the common blood supply shared between the duplication and native bowel must be carefully protected to avoid undue sacrifice of normal bowel, and (2) the presence of heterotopic gastric mucosa in 35% of patients negates internal drainage.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗