Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986–2001

ABSTRACT   There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from a population-based birth defects registry in Hawaii, this study calculated the rates for 48 specific structural birth defects among the AWD and compared these rates to the expected rates. There were 60 cases of omphalocele, 96 cases of gastroschisis, and 12 161 infants and fetuses with structural birth defects excluding the AWD among deliveries during 1986–2001. For omphalocele, higher than expected rates were found for 23 (47.9%) of the defects. These involved defects of a variety of organ systems. For gastroschisis, higher than expected rates were found for 8 (16.7%) of the defects, mainly neural tube defects (NTD) and specific defects of the orofacial and gastrointestinal system and the genital and urinary system. Both omphalocele and gastroschisis had elevated rates for NTD, intestinal atresia/stenosis, malrotation of intestines, obstructive genitourinary defects and limb reduction deformities. Certain specific structural birth defects occurred more often than expected with the AWD. The associated birth defects tended to vary between omphalocele and gastroschisis, although there were a few similarities. Due to the small number of cases, further research involving larger amounts of data are warranted.     

中国围产儿出生缺陷危险因素的meta分析

目的 探讨中国围产儿出生缺陷发生的主要危险因素,为今后防治工作提供依据.方法 利用meta分析方法分析国内17篇关于围产儿出生缺陷发病危险因素的研究文献.累计病例3 099例,对照4 742例.根据齐性检验结果采用计算各危险因素合并比值比(OR)及其95%可信区间(95% CI)模型.结果 出生缺陷发生的OR值及95%CI分别为:出生缺陷家族史5.90、2.39-14.55,孕早期患病5.52、2.98-10.21,孕早期用药4.43、3.15-6.22,孕早期接触有害物质4.50、3.23-6.27,自然流产史4.05、1.86-8.82,孕期营养不良3.11、2.93-3.30,孕期接触农药6.48、3.17-13.28,不良事件刺激1.92、1.42-2.60,父亲接触噪声6.13、1.96-19.17.结论 出生缺陷家族史,孕早期患病、用药、接触有害物质,自然流产史,孕期营养不良,接触农药,不良事件刺激及父亲接触噪声是中国围产儿出生缺陷发病的主要危险因素.     

73498例新生儿出生缺陷监测分析

目的了解新生儿出生缺陷发生情况及相关危险因素。方法回顾性分析2008年1月至2014年6月出生缺陷新生儿的资料。结果研究期间共出生新生儿73 498例,其中出生缺陷新生儿777例,发生率10.6%。出生缺陷前五位依次为先天性心脏病、多指(趾)/并指(趾)、尿道下裂、唇腭裂、外耳畸形。与无出生缺陷儿相比,出生缺陷儿中男婴、早产儿、低出生体质量、双胎及多胎、常住人口比例高,差异有统计学意义(P均0.05)。影响出生缺陷的主要危险因素为服药史、孕妇自然流产史、妊娠期糖尿病和家族史。结论婚前、孕产期保健,减少早产、双胎及多胎、低出生体质量的发生,提高产前诊断技术水平,做好出生缺陷监测可减少出生缺陷的发生。     

Pattern of chromosomal inversions identified by a birth defects registry, Hawaii, 1986-2002

The aim of the investigation was to describe chromosomal inversions identified by a birth defects registry with respect to chromosomes involved, pregnancy outcome, method of diagnosis, inheritance, sex and diagnosis of major structural birth defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with chromosomal deletions delivered during 1986-2002. A total of 68 cases were identified through a statewide birth defects registry in Hawaii during 1986-2002. The chromosomes involved in the greatest proportion of inversions were chromosomes 6 (18%) and 9 (18%). Live births accounted for 62 (91%) of the cases. Diagnosis was made by amniocentesis or chorionic villus sampling in 60 (88%) of the cases. Of the 43 cases with known inheritance, the inversion was inherited in 40 (93%) and de novo in three (7%). Males accounted for 31 (46%) and females for 37 (54%) of the cases. Major structural birth defects were identified in 12 (18%) of the cases. Inversions diagnosed among infants and fetuses in Hawaii do not appear to affect all chromosomes equally. Most detected inversions occurred among live births and were inherited conditions. Infants and fetuses with inversions are not frequently associated with major structural birth defects.     

Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986-2003

The aim of the investigation was to describe the chromosomal deletions identified by a birth defects registry with respect to the chromosomes involved, pregnancy outcome, method of diagnosis, inheritance, sex, and the diagnosis of major structural birth defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with chromosomal deletions delivered during 1986-2003. A total of 71 cases were identified through a statewide birth defects registry in Hawaii during 1986-2003. The chromosomes involved in the greatest proportion of deletions were chromosomes 22 (14.1%), 4 (11.3%), and 5 (11.3%). Live births accounted for 58 (81.7%) of the cases. Diagnosis was made by amniocentesis or chorionic villus sampling in 19 (26.8%) of the cases. Of the 18 cases with known inheritance, the deletion was inherited in 5 (27.8%) and de novo in 13 (72.2%). Males accounted for 28 (39.4%) and females for 43 (60.6%) of the cases. Major structural birth defects were identified in 51 (71.8%) of the cases. Chromosomal deletions do not appear to affect all chromosomes equally. Most of the chromosomal deletions that were detected occurred among live births and were de novo conditions. Infants and fetuses with chromosomal deletions are more likely to be females and to be associated with major structural birth defects.     

Assisted reproductive technologies and birth defects

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.     

Early development of children with major birth defects requiring newborn surgery

Aim: To describe neurodevelopmental outcomes of neonates following cardiac or non‐cardiac surgery for major birth defects. Methods: From 1 June 2002 to 31 July 2004, infants born ≥33 weeks gestation who underwent major birth defect surgery were enrolled prospectively. Infants were assessed at a mean corrected age of 24 months (standard deviation (SD) = 8 months, range 18–36 months) using the Bayley Scales of Infant Development: Second Edition. Results: Of the 118 study infants, 79 (66%) were male, the mean gestation was 38.5 weeks (SD 1.9 weeks) and mean birthweight was 3194 g (SD 653 g). Forty‐five infants (47%) had undergone general surgery for non‐cardiac defects. The majority of infants (73%) performed below average in cognitive and language skills. Mental delay was found in 41% of infants; 16% were significantly delayed. Fine and gross motor skills were below average in 60% of infants. Twenty‐six percent of infants had motor delay; 9% were significantly delayed. Both the mean Mental Development Index (M = 88, SD = 19.8) and mean Psychomotor Development Index (M = 93, SD = 19.3) were significantly below the normative mean (d = 0.8, P < 0.001 and d = 0.5, P < 0.001, respectively). One in five children had global developmental delay. There was no significant difference in outcome between the cardiac and general surgery groups. Conclusions: The majority of infants performed below average on a standardised test of infant development. Our results show that infants requiring newborn surgery for major birth defects are at high risk of adverse neurodevelopmental outcomes. We recommend that follow‐up programmes include systematic multidisciplinary developmental monitoring and early intervention.     

Rates for specific birth defects among offspring of Japanese mothers, Hawaii, 1986-2002

The objective of this investigation was to identify the rates for specific birth defects among the offspring of Japanese mothers in Hawaii and compare them to rates among the offspring of white mothers. Cases were all infants and fetuses with any of 54 specific birth defects born to Japanese and white mothers identified by a population-based birth defects registry in Hawaii. The rates were calculated for both racial groups and comparisons made by calculating the rate ratio and 95% confidence interval. The rates among the offspring of Japanese mothers were substantially higher for four of the birth defects (pulmonary valve atresia and stenosis, anomalous pulmonary venous return, cleft lip with/without cleft palate, small intestinal atresia and stenosis) and substantially lower for five of the birth defects (pyloric stenosis, hypospadias and epispadias, renal agenesis and hypoplasia, obstructive genitourinary defect, syndactyly). After adjusting for maternal age, these significantly elevated or lower rates remained. Moreover, the rate was significantly higher among the offspring of Japanese mothers for anotia/microtia, tetralogy of Fallot, and persistent cloaca and significantly lower for transposition of great arteries. The rates for a number of specific birth defects differed between Japanese and white mothers in Hawaii.     

Clinical outcomes in very low birth weight infants with major congenital heart defects

Background

The combination of major congenital heart disease (CHD) and prematurity is associated with poor prognosis, but previous studies have not fully characterized morbidity and mortality in this population. We conducted a retrospective cohort study of very low birth weight (VLBW) infants with major CHD to describe outcomes, including mortality, over time.

Methods

We included all infants < 1500 g birth weight with major CHD discharged from Pediatrix Medical Group neonatal intensive care units from 1997 to 2012. We report incidences of major CHD in VLBW infants and compare mortality and morbidity by infant birth weight, type of major CHD, and time period.

Results

Of 105,539 VLBW infants, 299 (0.3%) were diagnosed with 15 different major CHDs. Coarctation of the aorta (n = 67, 22%), atrioventricular septal defect (n = 58, 19%), and tetralogy of Fallot (n = 53, 18%) were the most common major CHDs identified. Overall mortality was 163/299 (55%). Mortality was ≥ 70% for 10 lesions and < 30% for isolated aortic valve stenosis (6/30, 20%). Mortality in infants with major CHD did not significantly change over time: 76/133 (57%) in 1997–2005, 49/95 (52%) in 2006–2009, and 38/71 (54%) in 2010–2012 (p = 0.70). The majority of infants suffered ≥ 1 comorbidity or died (218/299, 73%).

Conclusion

Major CHD is associated with high morbidity and mortality. While mortality varies by lesion, overall survival and incidence of major morbidity have not improved over time.     

Patterns and risk factors of birth defects in rural areas of south‐eastern Gabon

Within the context of high neonatal mortality in sub‐Saharan Africa, a retrospective study was conducted on the prevalence of congenital malformations and the association between maternal risk factors and birth defects in rural populations of south‐eastern Gabon. Two populations were studied: a group of 3500 births recorded in rural area (Koula‐Moutou) and a second group of 4212 births in a semi‐rural area (Franceville) in Gabon. Our data showed an increasing prevalence in congenital anomalies from rural to urban areas (P < 0.001). Maternal risk factors such as age > 35 years, multiparity and employment status were significantly associated with the levels of stillbirth. Together with abortions and stillbirths, congenital malformations require strong monitoring in rural and urban areas of sub‐Saharan Africa.     

极低出生体质量儿视网膜病变筛查和高危因素分析

目的研究出生体质量≤1500g的早产儿视网膜病(ROP)发生率和临床高危因素,探讨预防小早产儿视网膜病的有效措施。方法回顾性分析2006年8月1日—2008年7月31日期间,在新生儿重症监护室住院的107例出生体质量≤1500g早产儿ROP筛查的结果,以发病组为观察组,非ROP为对照组,进行统计学分析。结果早产儿ROP的发生率为33.64%,Ⅰ期11例,Ⅱ期13例,Ⅲ期12例,检出时间为(245.36±12.85)d。妊娠并发症胎盘早剥和严重的早产儿并发症,增加了ROP的发病率;ROP的发生率与胎龄及出生体质量成反比,双胎及多胎妊娠不影响ROP的发生;对ROP的病因进行单因素分析发现,胎龄、出生体质量、抗生素使用时间、吸氧时间、血氧分压、肺表面活性物质的使用、支气管肺发育不良、机械通气、呼吸暂停与ROP有关(P<0.05);通过Logistic回归分析发现呼吸暂停、血氧分压和出生体质量是高危因素(P均<0.05)。结论呼吸暂停、血氧分压和出生体质量是ROP的高危因素,避免血氧波动有助于降低ROP的发生率。     

新生儿临床风险指数在早产低出生体重儿中的应用

新生儿临床风险指数（ clinical risk index for babies,CRIB ）是一种应用于早产低出生体重儿评估最初疾病严重程度,预测死亡风险率,评估各医疗机构的自身医疗质量,以及对各医疗机构之间进行客观医疗水平比较的评分系统,对我国日益发展的新生儿医学起着重要的作用。本文详细介绍了CRIB评分系统的来源及发展现状、具体评分细则以及CRIB的优点,对早产低出生体重儿死亡风险预测的准确性,并分析了其应用于预测早产低出生体重儿远期神经系统发育的价值。     

Consideration on the methodology of a simple and effective birth defect monitoring system

ABSTRACT In detecting changes of the occurrence of birth malformation it is important to indicate the prevalence of environmental hazards. The Tottori Monitoring System for Birth Defects (TOM) is a small regional system covering 6,000 births yearly which was started in 1974. The system is made up mainly of two projects: a monitoring system for reporting congenital malformation and an epidemiological and genetic study for neuro-developmental and genetic disorders. The former system has changed its sampling procedure four times during the past 26 years because of the difficulty in getting cooperation from local administrations and from all maternity clinics in the Tottori prefecture. We have compared those four changes in the system with the following criteria: availability, reliability, durability, operationality and confidentiality. Our conclusion is that the population-based system which received positive support from the administration and almost all obstetricians in the field was the best in quality. On the other hand, the hospital-based system organized by a small group of pediatricians and obstetricians who belong to core hospitals in the field was a simpler but useful system for maintaining durability, operationality and confidentiality. It is, however, important to note that the data collected by the hospital-based system showed a relatively lower frequency in serious malformations like anencephaly and non-emergency malformations like syndactylia as compared with those collected by the population-based system. If an inter-regional collaboration among the similar local systems in Japan could be set-up, a useful network could be developed eventually acting as an ideal population-based system.     

Toward the prevention of human birth defects: a personal perspective

ABSTRACT Twenty years ago, the late Professor Hideo Nishimura identified some unsolved problems in teratology. His prediction concerning the future advances in this research area has in part become a reality by the year of 2001, but some difficult problems have still to be solved. We neither understand the causes and initiating mechanisms of a vast majority of birth defects nor have measures that can effectively prevent the birth of malformed babies. With the remarkable advances in molecular biology, the tune has come when we have the ability to elucidate the mechanisms of abnormal development and identify procedures to prevent human birth defects.     

Maternal risk factors associated with low birth weight

Maternal factors comprising of social, obstetric and anthropometric are fund to influence LBW. The present study had found association between obstetricrisk factors like age of the mother, parity and gravida with LBW. Similar association was also observed between maternal height, and maternal weight with LBW. However, social factors were not found to be associated with LBW. This could probably be due to RUHSA’s intervention which requires a further inquiry.     

新生儿危重病例评分与临床危险指数评分预测极低出生体重儿死亡风险的比较

目的探讨新生儿危重病例评分(NCIS)与新生儿临床危险指数(CRIB)评分对极低出生体重儿死亡风险评估的价值。方法对93例早产儿按不同胎龄、体重分组进行NCIS,其中42例胎龄<31周或出生体重<1.5kg者再进行CRIB评分,将两种评分结果进行比较。结果①胎龄越小、体重越轻,疾病危重评分分值越低,胎龄<31周或出生体重<1.5kg者明显低于≥31周或出生体重≥1.5kg者,其差异有显著性(P均<0.05雪;②死亡病例NCIS明显低于非死亡病例,CRIB评分明显高于非死亡病例,差异有显著性(P均<0.05雪;③NCIS与新生儿CRIB评分两者间呈负相关,r=-0.383,P<0.01。结论NCIS与CRIB评分均可较好地判断极低出生体重儿的疾病危重度,预测死亡风险,且两者相关性好。     

Neurodevelopmental outcomes of very low birth weight and extremely low birth weight infants at 18 months of corrected age associated with prenatal risk factors

Background

Very premature infants occasionally have neurodevelopmental disabilities. However, there have been quite limited data on prenatal risk factors associated with their neurodevelopmental outcomes.

Aim

To clarify the relationship between prenatal risk factors and neurodevelopmental outcomes of very premature infants.

Study design

The study design is a retrospective review.

Subjects

One hundred seventy Japanese women with a singleton pregnancy and their infants whose birth weight being less than 1500 g were included. We classified those infants into 118 appropriate for gestational age (AGA) and 52 small for gestational age (SGA) infants.

Outcome measures

Infants' neurodevelopmental outcomes at 18 months of corrected age were evaluated by the Kyoto Scale of Psychological Development 2001 (KSPD). We analyzed and compared the infants' outcomes and prenatal risk factors between two groups.

Results

Mortality and rate of infants unevaluable by KSPD because of severe impairment were not significantly different between those groups. However, the developmental quotient score of the cognitive-adaptive area in SGA infants born between 25 and 31 weeks of gestation was significantly lower than that in AGA infants randomly selected as gestation-matched controls. More advanced gestational age and heavier birth weight protected against adverse neurodevelopmental outcomes in both groups. Moreover, male infants were related to the excess risk of adverse neurodevelopmental outcomes in the SGA group.

Conclusion

In view of the neurodevelopment of the infants, it seems that the most efficient obstetric strategy for improving prognosis of premature infants should be targeted to prolong the pregnancy period as long as the reassuring fetal status and maternal stable health condition are being confirmed.     

极低/超低出生体重儿迟发型败血症发生情况及其危险因素分析

目的探讨新生儿重症监护病房(NICU)极低/超低出生体重儿迟发型败血症(LOS)的发生情况及危险因素。方法收集2011年1月至2013年12月入住NICU的极低或超低出生体重儿的临床资料,根据是否合并LOS分为两组:LOS组和无LOS组。回顾性分析LOS的发生率、病死率、常见病原菌及危险因素。结果纳入的226例极低/超低出生体重儿中,117例(51.8%)发生了LOS,其中45例为确诊LOS,72例为临床诊断LOS。LOS组患儿病死率为13.7%(16/117),明显高于无LOS组(5/109,4.6%),差异有统计学意义(P0.05)。共培养出51株病原菌,其中32株(63%)为革兰阴性细菌,16株(31%)为革兰阳性细菌,3株(6%)为真菌。多因素logistic回归分析显示,胎龄、小于胎龄儿、肠外营养持续时间、经外周静脉穿刺中心静脉置管(PICC)、机械通气是极低/超低出生体重儿LOS发生的独立影响因素(OR分别为:0.84、1.59、1.34、3.11、4.55,均P0.05)。结论极低/超低出生体重儿LOS的发生率及病死率较高。LOS常见病原菌为革兰阴性细菌。胎龄低、肠外营养持续时间长、小于胎龄儿、PICC或机械通气的极低/超低出生体重儿LOS的发生危险可能增加。