National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001

BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects.     

Prenatal diagnosis, pregnancy terminations and prevalence of Down syndrome in Atlanta

BACKGROUND: The impact of prenatal diagnosis on the live birth prevalence of Down syndrome (trisomy 21) has been described. This study examines the prevalence of Down syndrome before (1990-1993) and after inclusion of prenatally diagnosed cases (1994-1999) in a population-based registry of birth defects in metropolitan Atlanta. METHODS: We identified infants and spontaneous fetal deaths with Down syndrome (n = 387), and pregnancies electively terminated after a prenatal diagnosis of Down syndrome (n = 139) from 1990 to 1999 among residents of metropolitan Atlanta from a population-based registry of birth defects, the Metropolitan Atlanta Congenital Defects Program (MACDP). Only diagnoses of full trisomy 21 were included. Denominator information on live births was derived from State of Georgia birth certificate data. We compared the prevalence of Down syndrome by calendar period (1990-1993, 1994-1999), maternal age (<35 years, 35+ years), and race/ethnicity (White, Black, other), using chi-square and Fisher's exact tests. RESULTS: During the period when case ascertainment was based only on hospitals (1990-1993), the prevalence of Down syndrome was 8.4 per 10,000 live births when pregnancy terminations were excluded and 8.8 per 10,000 when terminations were included. When case ascertainment also included perinatal offices (1994-1999), the prevalence of Down syndrome was 10.1 per 10,000 when terminations were excluded and 15.3 when terminations were included. During 1990-1993, the prevalence of Down syndrome was 24.7 per 10,000 among offspring to women 35+ years of age compared to 6.8 per 10,000 among offspring to women <35 years of age (rate ratio [RR] = 3.65, 95% confidence interval [CI] = 2.53-5.28). During 1994-1999, the prevalence of Down syndrome was 55.3 per 10,000 among offspring to women 35+ years compared to 8.5 per 10,000 among offspring to women <35 years (RR = 6.55, 95% CI = 5.36-7.99). There was no statistically significant variation in the prevalence of Down syndrome by race/ethnicity within maternal age and period of birth strata. During 1994-1999, the proportion of cases that were electively terminated was greater for women 35+ years compared to women <35 years (RR = 5.10, 95% CI = 3.14-8.28), and lower for Blacks compared to Whites among women 35+ years of age (RR = 0.33, 95% CI = 0.16-0.66). CONCLUSIONS: In recent years, perinatal offices have become an important source of cases of Down syndrome for MACDP, contributing at least 34% of cases among pregnancies in women 35+ years of age. Variation in the prevalence of Down syndrome by race/ethnicity, before or after inclusion of cases ascertained from perinatal offices, was not statistically significant. Among Down syndrome pregnancies in mothers 35+ years we found a lower proportion of elective termination among Black women compared to White women. We suggest that future reports on the prevalence of Down syndrome by race/ethnicity take into account possible variations in the frequency of prenatal diagnosis or elective termination by race/ethnicity.     

Legislative Time Again

The incidence of retrolental fibroplasia in a general hospital for the period January 1952 to January 1955 was reviewed and it was noted that a sharp decrease in incidence was associated with a reduction in the intensity of oxygen therapy. Retrolental fibroplasia developed most frequently in the smallest premature infants and no cases occurred in infants weighing more than 2,000 gm. at birth.     

The physical stature and bmi values of US Army personnel in 1988

The US Army's 1988 Anthropometric Survey (ANSUR) data set is analysed in order to estimate the secular trend of their physical stature and body mass index while controlling for ethnic composition as well as place of birth of their parents. Separate analysis for blacks and whites stratified by gender is presented. The stature of the American population remained constant during most of the period considered, and no substantial ethnic or spatial effects were found. These results add further support to trends based on the National Health and Nutrition Examination Surveys and imply that the stagnation in height found in those data sets is most probably not biased by the omitted variables pertaining to own ethnicity or second-generation effects of parents' ethnicity or foreign birth.     

Trends in the postfortification prevalence of spina bifida and anencephaly in the United States

BACKGROUND: The prevalence of NTDs in the US declined significantly after mandatory folic acid fortification; however, it is not known if the prevalence of NTDs has continued to decrease in recent years relative to the period immediately following the fortification mandate. METHODS: Population‐based data from 21 birth defects surveillance systems were used to examine trends in the birth prevalence of spina bifida and anencephaly during 1999–2000, 2001–2002, and 2003–2004. Prevalence data were stratified by non‐Hispanic White, non‐Hispanic Black, and Hispanic race or ethnicity. Prevalence ratios were calculated by dividing the birth prevalences during the later time periods (2001–2002 and 2003–2004) by the birth prevalences during 1999–2000. RESULTS: During 1999–2004, 3,311 cases of spina bifida and 2,116 cases of anencephaly were reported. Hispanic infants had the highest prevalences of NTDs for all years. For all infants, the combined birth prevalences of spina bifida and anencephaly decreased 10% from the 1999–2000 period to the 2003–2004 period. The decline in spina bifida (3%) was not significant; however the decline in anencephaly (20%) was statistically significant. CONCLUSIONS: While the prevalences of spina bifida and anencephaly in the United States have declined since folic acid fortification in the food supply began, these data suggest that reductions in the prevalence of anencephaly continued during 2001–2004 and that racial and ethnic and other disparities remain. Birth Defects Research (Part A), 2008. © 2008 Wiley‐Liss, Inc.     

Breast-feeding patterns, maternal milk output and lactational infecundity.

Breast feeding can serve as a contraceptive up to 6 months after birth with 98% effectiveness. The so-called suckling reflex arc is a sensitive mechanism conveying messages about nutritional needs of the child, stimulating the release of prolactin responsible for milk production, suppressing ovarian activity by hypothalamic beta-endorphin production leading to reduction in the pulsatile release of gonadotrophic hormones. Increased suckling produces more milk, but only in well-fed women. In Bangladesh, malnourished children required more suckling time than better-fed infants. Increasing the amounts of weaning food lowers feed urgency and suckling intensity thereby relaxing ovarian suppression. Breast-milk consumption can be measured by test weighing the infant before and after feeding, but it is subject to error, especially in developing countries where up to 20 feeds are required to deliver 800 ml of milk. Thus, weighing over 2-5 days is more accurate. The method of giving deuterium oxide tracer to the mother, and measuring its disappearance from the mother's milk and the infant's saliva for 2 weeks is precise and noninvasive. The Doppler ultrasound technique measures milk flow through an artificial teat for research purposes. Manual or mechanical pump measurement of milk transfer separates the mother from the child, thus it is not useful for normal conditions. It can be used for estimating the amount of milk left and the rate of milk secretion by using a breast pump along with oxytocin for full emptying of milk. Accurate estimation of suckling intensity and milk transfer is essential for the determination of the relationship of breast feeding and lactational infecundity.     

Child height and intergenerational transmission of health: Evidence from ethnic Indians in England

A large literature documents a widespread prevalence of small stature among Indian children as well as adults. We show that a height gap relative to a richer population such as whites in England also exists, although substantially reduced, among adult immigrants of Indian ethnicity in England. This is despite positive height selection into migration, demonstrated by ethnic Indian adults in England being on average 6–7 cm taller than in India. However, the difference between natives and ethnic Indians in England disappears among their younger sons and daughters, although it re-appears among adolescents. We estimate that, conditional on age, gender and parental height, ethnic Indian children of age 2–4 in England are 6–8% taller than in India. Such degree of catch up in one generation is remarkable, also because in England children of ethnic Indians have much smaller birthweight than whites, by about 0.4 kg on average.     

Infant response to mother call patterns in Otolemur garnettii

Garnett's greater bushbaby infants vocalize in apparent response to their mother's contact calls. However, it remains unclear whether specific vocal or behavioral patterns by a mother elicit this vocal response. We video-recorded the behaviors and vocalizations of 4 individual mother-infant groups (mother with twins), analyzed vocalizations via spectrography and documented behaviors of mothers and infants. Initial analyses of all groups revealed that short growls and short growl bouts (or chains), but not long growls, emitted by mothers, were followed by infant clicks within 5 s. Further statistical examination of 1 mother-infant group revealed that an infant's vocal response is conditional on the sequencing of the mother's short growls and somewhat conditional on the mother's behavior before or after the short growls.     

Epidemiology of Down syndrome (Trisomy 21), Hawaii, 1986-97

BACKGROUND: The live birth prevalence of Down syndrome is approximately 10 per 10,000 live births in the United States. Down syndrome prevalence has been reported to change over time and to vary by selected demographic factors. METHODS: Data from a population-based birth defects registry in Hawaii involving 363 Down syndrome cases delivered during 1986-97 were used to calculate overall prevalence and to investigate secular trends and differences by selected demographic factors. RESULTS: The total (live birth, fetal death, and elective termination) prevalence was 14.74 per 10,000 live births and fetal deaths. The unadjusted live birth prevalence was 8.67 per 10,000 live births. The adjusted live birth (live births and proportion of elective terminations expected to have resulted in live births) prevalence was 12.59 per 10,000 live births. No significant secular trends were observed for either total prevalence (P = 0.688) or adjusted live birth prevalence (P = 0.604). The total Down syndrome prevalence per 10,000 live births was highest for Far East Asians (22.01), followed by whites (17.06), Filipinos (15.94), and Pacific Islanders (9.21). Prevalence per 10,000 births was higher in metropolitan Honolulu (18.57) than in the rest of Hawaii (14.15). After adjusting for maternal age, however, the differences within the demographic groups were not statistically significant. CONCLUSIONS: The live birth prevalence of Down syndrome in Hawaii during 1986-97 was lower than reported in the literature. Prevalence did not change significantly over time. Any differences in prevalence by maternal race/ethnicity and place of residence appeared to result from differences in maternal age distribution.     

Maternal and infant demographics and health status: a comparison of black, Caucasian, and Hispanic families

The relationships among ethnicity, demographics, smoking and drinking habits, and maternal and infant health were examined in a sample of 171 low-income and low-risk Black, Caucasian, and Hispanic families. Few ethnic differences in the health status of the mothers and their infants emerged when ethnic differences were directly examined; however, a latent variable analysis indicated that ethnicity was related to smoking and drinking habits such that Caucasian mothers were more likely to smoke and drink. Smoking and drinking, in turn, led to smaller infant size at birth. Demographic differences found in level of income, education, and family composition suggest that low-income families are not necessarily homogeneous.     

Playback experiment to test maternal responses of Japanese macaques (Macaca fuscata) to their own infant's call when the infants were four to six months old

Calls emitted by infants when the infant loses sight of its parents are useful to estimate the infant's requirement for parental care. When an Old World monkey infant loses sight of its mother it emits whistles. Therefore, it would be interesting to determine whether mothers could distinguish their own infant's whistles from the whistles of other infants. The response of each of seven Japanese macaque (Macaca fuscata) mothers to her own infant's whistle was compared with their responses to another infant's whistle. Matched control playback experiments were performed when the infants were four to six months old. The results showed that each mother could distinguish her own infant's whistle from that of another infant when the infants were four to six months old. Although a stricter experimental plan is required to further examine the issue, we found that the dominance rank of the infant's mother was another important factor in the female response to the infant's call. The finding suggests that females can associate a call emitted by an infant with its mother's rank, even before the infant begins to wander far from its mother.     

低出生体重儿肠道微生态构建影响因素的 动态监测

目的动态监测低出生体重儿肠道菌群,分析不同体重、不同喂养方式及疾病状态等因素对患儿肠道微生态的影响,为规范临床低出生体重儿宫外营养支持措施及治疗手段提供依据。方法应用16SrRNA荧光定量PCR技术检测正常新生儿和低出生体重儿生后第1、3、7天粪便中大肠埃希菌、肠球菌、乳杆菌及双歧杆菌的含量。结果 (1)在生后7d内,无论正常新生儿还是低出生体重儿,其粪便中大肠埃希菌、肠球菌、乳杆菌和双歧杆菌的含量均随日龄的增加而增加,且生后7d内正常新生儿的粪便中大肠埃希菌、肠球菌、乳杆菌和双歧杆菌的含量均显著高于低出生体重儿(P0.05),正常新生儿生后7d内粪便中各细菌的增长率均高于低出生体重儿。(2)体重2 000~2 500g的低出生体重儿粪便中大肠埃希菌和肠球菌在各日龄中的含量明显高于体重2 000g的新生儿(P0.05);同时其粪便中双歧杆菌和乳杆菌含量在3日龄和7日龄阶段明显高于体重2 000g的新生儿(P0.05)。(3)3日龄和7日龄母乳喂养组的低出生体重儿粪便中双歧杆菌和乳杆菌含量明显高于乳制品喂养组(P0.05);且母乳喂养组新生儿生后7日内粪便中大肠埃希菌、乳杆菌和双歧杆菌含量的增长率均高于乳制品喂养组,尤其是双歧杆菌的增长率(126.49%vs 54.81%)。(4)合并并发症的3日龄和7日龄的低出生体重儿,粪便中乳杆菌和双歧杆菌含量均明显低于无合并症的低出生体重儿(P0.05);且无并发症组的低出生体重儿其粪便中肠球菌、乳杆菌和双歧杆菌的增长率均高于有并发症组的低出生体重儿,大肠埃希菌增长率则低于有并发症组。结论低出生体重儿肠道菌群的定植时间晚且数量少,体重、喂养方式及有无并发症是影响新生儿肠道菌群丰度的重要因素。母乳喂养可促进低出生体重儿肠道中益生菌的定植。疾病因素会导致肠道菌群丰度的降低,使肠道菌群紊乱,其程度可能与病情的严重程度相关。     

Comparison of serum total calcium, dialyzable calcium, and dialyzable magnesium in well and sick neonates

We studied the relation of serum total calcium, dialyzable calcium, and dialyzable magnesium in 61 well and sick newborn infants aged 7-76 h. The infants' serum total calcium, dialyzable calcium and magnesium concentrations (ion chromatography method) were studied in comparison with the infant's history and sickness scale. We found that serum total calcium and dialyzable magnesium were lower in sick infants compared to well infants. Both serum total and dialyzable calcium concentrations initially decreased and then increased by about 30 h of age. Serum dialyzable magnesium concentrations increased with our infants' age. Serum total calcium values correlated significantly with the infant's birth weight, gestational age, 1-min Apgar score, respiratory distress, severity of sickness, serum bilirubin and sodium concentrations.     

Causes of death and case fatality rates among infants with down syndrome in metropolitan Atlanta

BACKGROUND: There is limited population-based information on the extent of underreporting of congenital heart defects (CHD) as a cause of death among infants with Down syndrome (DS) and on the variation in case fatality by presence of CHD and age at death. METHODS: Using data from the Metropolitan Atlanta Congenital Defects Program (MACDP), we identified infants with DS born 1979-2003. We used data from Georgia death certificates and the National Death Index to determine vital status and identify causes of death. Using MACDP records as a reference, we calculated the sensitivity and positive predictive value of reports of CHD as any cause of death or contributing condition in death certificates. We calculated race-specific case fatality rate by infant's age at death and presence of CHD. RESULTS: CHD was the most frequently reported cause of death from death certificates; however, a review of causes of death and birth defects data indicated a potentially greater impact of CHD among DS infant deaths than could be determined from the reported cause of death. The case fatality rate among infants with DS was significantly higher among blacks than whites, with the greatest racial disparity observed among infants without CHD who died in the post-neonatal period. CONCLUSIONS: Efforts are needed to improve reporting of causes of death related to CHD among infants with DS that would allow for a clearer assessment of determinants of case fatality among DS infants and identification of possible ways to reduce the racial disparities.     

Do infants with major congenital anomalies have an excess of macrosomia?

BACKGROUND: Infants that develop congenital anomalies may also have an excess prevalence of macrosomia (birth weight > or =4,000 g). This may indicate that abnormalities of glycemic control play a role in the etiology of birth defects. This study was undertaken to determine whether all infants with congenital anomalies have an excess of macrosomia and whether it is confined to specific types of anomalies. METHODS: A case-control study was conducted, comparing the birth weights of 8,226 infants with congenital anomalies ascertained by the Texas Birth Defects Monitoring Division with those of 965,965 infants without birth defects. Odds ratios were calculated to determine the association between birth weight and congenital anomalies, for 45 specific defects, and for all these defects combined. RESULTS: For all 45 defects combined, a significant association occurred only in the highest birth weight category. Infants with congenital anomalies were more likely than infants without birth defects to have a birth weight > or =4,500 g (OR = 1.65; 95% CI = 1.39-1.96). Infants born with ventricular septal defects, atrial septal defects, ventricular hypertrophy, or anomalies of the great vessels were 1.5-2.5 times more likely to weigh > or =4,000 g than were infants without birth defects. Based on small numbers, a stronger excess of macrosomia was observed for infants with encephalocele, holoprosencephaly, anomalies of the corpus callosum, preaxial polydactyly, and omphalocele. CONCLUSIONS: Our data suggest that infants with specific congenital anomalies are more likely to be macrosomic than are infants without an anomaly. If these findings are confirmed, associations between macrosomia and specific types of birth defects may help to identify birth defects that are caused by alterations in glycemic control.     

Omphalocele and gastroschisis: Black-White disparity in infant survival

BACKGROUND: Racial/ethnic variations in the occurrence of abdominal wall defects have been previously noted but it remains poorly understood whether race/ethnicity is a determinant of survival among affected infants. METHODS: Study was conducted on cases of gastroschisis and omphalocele recorded for the years 1983-1999 at the New York Congenital Malformation Registry. Adjusted and unadjusted hazard ratios were generated from a Proportional Hazards Regression model to compare survival among affected Blacks, Hispanics and Whites. The major end point of analysis was differences in all cause mortality among infants with abdominal wall birth defects across different racial/ethnic groups. RESULTS: Among the three racial/ethnic groups, 1481 infants were diagnosed with either omphalocele (978 or 66%) or gastroschisis (503 or 34%). Overall infant mortality rate (IMR) was 182 per 1000, with 74% of the deaths occurring within the first 28 days of life. Omphalocele infants had significantly higher infant mortality (IMR = 215 per 1000) than infants with gastroschisis (IMR = 118 per 1000)[p < 0.0001]. Overall, Black infants with abdominal wall defects had lower mortality indices than Whites and Hispanics. However, when considered as separate disease entities, Black infants were twice as likely to survive as compared to Whites if they had omphalocele [Adjusted Hazard Ratio (AHR) = 0.52; 95% Confidence Interval (CI) = 0.37-0.74], and twice as likely to die as Whites if they had gastroschisis instead (AHR = 2.23; 95% CI = 1.16-4.28). For both defect subtypes, Hispanics have risks for infant mortality comparable to Whites. CONCLUSIONS: The natural history of omphalocele and gastroschisis co-varies with race. Black infants with gastroschisis have worse survival outcomes while those with omphalocele have better chances of survival than their White or Hispanic counterparts.     

Can mothers judge the size of their newborn? Assessing the determinants of a mother's perception of a baby's size at birth

Birth weight is known to be closely related to child health, although as many infants in developing countries are not weighed at birth and thus will not have a recorded birth weight it is difficult to use birth weight when analysing the determinants of child illness. It is common to use a proxy for birth weight instead, namely the mother's perception of the baby's size at birth. Using DHS surveys in Cambodia, Kazakhstan and Malawi the responses to this question were assessed to indicate the relationship between birth weight and mother's perception. The determinants of perception were investigated using multilevel ordinal regression to gauge if they are different for infants with and without a recorded birth weight, and to consider if there are societal or community influences on perception of size. The results indicate that mother's perception is closely linked to birth weight, although there are other influences on the classification of infants into size groups. On average, a girl of the same birth weight as a boy will be classified into a smaller size category. Likewise, infants who died by the time of the survey will be classified as smaller than similarly heavy infants who are still alive. There are significant variations in size perception between sampling districts and clusters, indicating that mothers mainly judge their child for size against a national norm. However, there is also evidence that the size of infants in the community around the newborn also has an effect on the final size perception classification. Overall the results indicate that mother's perception of size is a good proxy for birth weight in large nationally representative surveys, although care should be taken to control for societal influences on perception.     

Mother-offspring conflict and interference at mother's mating inMacaca fascicularis

Theory suggests that it is in the interest of an infant to garner more care than its mother is selected to provide and that a rival sibling would curtail care from the mother. Thus delayed conception in the mother would be of advantage to the infant. One method of achieving this result would be to interfere with the mother's potential matings. To test this theory, the conflict between mothers and their infants in relation to maximizing inclusive fitness has been studied inMacaca fascicularis and infant interference has been observed. Focal animal samples were taken on 8 mothers and their 13 infants. Interactions analyzed were those between the mother and (1) an adult male, (2) her infant, (3) an adult female, (4) her infant and an adult male, (5) her infant and an adult female. Only explicit behaviours were analyzed. The infant's interference was found to be significantly related to its mother's mating, and this produced a deterring effect on the male. Infants did not interfere with any female's matings other than those of their mother. The interference was related to the number of mother-male contacts. In mothers that did subsequently conceive, infant interference at mating increased up to the mother's conception date and decreased thereafter. By contrast to the infants direct method, mothers approached the conflict indirectly. There were significantly more contacts and mounts with males in their infant's absence, they reacted negatively to their infant only when it had interfered, they were more lenient in the presence of an adult female than with an adult male, and they avoided their infant's presence at mother-male contacts. No significant sex bias in interference or the number of contacts with mother-male pairs has been found. There are indications of a sibship pattern of interference.