scholarly journals P059: Antenatal surveillance of fetal abnormalities?the importance of a population based Birth Defect Registry

2003 ◽  
Vol 22 (S1) ◽  
pp. 87-87
Author(s):  
J. V. K. Tan ◽  
K. K. H. Tan ◽  
G. S. H. Yeo
Keyword(s):  
Birth Defect ◽  
Population Based ◽  
Fetal Abnormalities ◽  
Birth Defect Registry

Pregnancy Experience after Delivery of a Child with a Major Birth Defect: A Population Study

PEDIATRICS ◽  
1995 ◽  
Vol 95 (1) ◽  
pp. 59-65
Author(s):  
Margarett K. Davis ◽  
Muin J. Khoury ◽  
J. David Erickson
Keyword(s):  
Birth Defects ◽  
Reproductive Behavior ◽  
Birth Defect ◽  
Large Population ◽  
Population Based ◽  
Subsequent Pregnancy ◽  
Pregnancy Rates ◽  
Wide Range ◽  
First Year Of Life ◽  
And Control

Objective. Data from a large population-based, case-control study were analyzed to determine whether women giving birth to children with major birth defects have different subsequent pregnancy patterns than those giving birth to live-born babies without defects. Other studies examining this phenomenon have been smaller, have not been population-based, or have not addressed the different effects that a wide range of major defects might have on mothers' subsequent pregnancy rates. Methods. Mothers of 4918 infants with major birth defects born from 1968 through 1980 in metropolitan Atlanta were compared with mothers of 3029 control infants, frequency-matched on birth year, birth hospital, and race. Results. The pregnancy rate in the first 3 years after the index birth was higher among case mothers (36%) than among control mothers (30%, P < .0001). This excess was seen for mothers of stillborn case infants (64%) and mothers of case infants who died in infancy (58%), but not for mothers of case infants who survived the first year of life (31%). Pregnancy rates varied by birth defect type. Maternal and infant factors varied among case and control subjects and influenced subsequent pregnancy rates. Conclusion. The reproductive behavior observed in this study supports the theory that mothers of nonsurviving children with birth defects compensate by acting to "replace" the lost child. Reproductive behavior was also strongly associated with having completed a previous pregnancy and by the type of birth defect.

Population-based birth-defect and risk-factor surveillance: data from the Northern Netherlands

1996 ◽  
Vol 8 (3) ◽  
pp. 197-209 ◽  
Author(s):  
Martina C. Cornel ◽  
J. David Erickson ◽  
Muin J. Khoury ◽  
Levy M. James ◽  
Yecai Liu
Keyword(s):  
Risk Factor ◽  
Birth Defect ◽  
Population Based ◽  
Surveillance Data ◽  
Risk Factor Surveillance

scholarly journals Sex differences in the prevalence of neural tube defects and preventive effects of folic acid (FA) supplementation among five counties in northern China: results from a population-based birth defect surveillance programme

BMJ Open ◽  
2018 ◽  
Vol 8 (11) ◽  
pp. e022565 ◽  
Author(s):  
Jufen Liu ◽  
Jing Xie ◽  
Zhiwen Li ◽  
Nicholas D E Greene ◽  
Aiguo Ren
Keyword(s):  
Sex Differences ◽  
Folic Acid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
Birth Defect ◽  
Northern China ◽  
Population Based ◽  
Secondary Outcome ◽  
Surveillance Programme

ObjectivesSex differences in prevalence of neural tube defects (NTDs) have previously been recognised; however, the different susceptibility of men and women have not been examined in relation to the effects of folic acid (FA) supplementation. We hypothesised that FA may have a disproportionate effect that alters the sex-specific prevalence of NTDs.SettingData from two time points, before (2003–2004) and after (2011–2016) the start of the supplementation programme, were obtained from a population-based birth defect surveillance programme among five counties in northern China. All live births (28 or more complete gestational weeks), all stillbirths of at least 20 weeks’ gestational age and pregnancy terminations at any gestational age following the prenatal diagnosis of NTDs were included.ParticipantsA total of 25 249 and 83 996 births before and after the programme were included respectively.Primary and secondary outcome measuresThe prevalence of NTDs by sex and subtype, Male:female rate ratios and their 95% CI were calculated.ResultsOverall, NTDs were less prevalent among men than among women (rate ratio (RR) 0.92; 95% CI 0.90 to 0.94), so was anencephaly (RR 0.77; 95% CI 0.73 to 0.81) and encephalocele (RR 0.75; 95% CI 0.61 to 0.92), while spina bifida showed a male predominance (RR 1.10; 95% CI 1.05 to 1.15). The overall prevalence of NTDs decreased by 78/10 000 in men and 108.7/10 000 in women from 2003 to 2004 to 2011 to 2016. There was a significant sex difference in the magnitude of reduction, being greater in women than men, particularly for anencephaly.ConclusionsThe prevalence of NTDs decreased in both sexes after the implementation of a massive FA supplementation programme. While female predominance was observed in open NTDs and total NTDs, they also had a greater rate of decrease in NTDs after the supplementation programme.

Parental mental illness and fatal birth defects in a national birth cohort

2007 ◽  
Vol 38 (10) ◽  
pp. 1495-1503 ◽  
Author(s):  
R. T. Webb ◽  
A. R. Pickles ◽  
S. A. King-Hele ◽  
L. Appleby ◽  
P. B. Mortensen ◽  
...  
Keyword(s):  
Mental Illness ◽  
Birth Cohort ◽  
Birth Defects ◽  
Birth Defect ◽  
Population Based ◽  
Parental Mental Illness ◽  
Risk Of Death ◽  
Maternal Illness ◽  
Relative Risks ◽  
History Of

BackgroundFew large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort was created by linking Danish national registers. We identified all singleton live births during 1973–1998 (n=1.45 m), all parental psychiatric admissions from 1969 onwards, and all fatal birth defects until 1 January 1999. Linkage and case ascertainment were almost complete. Relative risks were estimated using Poisson regression.ResultsRisk of fatal birth defect was elevated in relation to history of any maternal admission and also with affective disorders specifically, although the strongest effect found was with maternal schizophrenia. The rate was more than doubled in this group compared to the general population [relative risk (RR) 2.34, 95% confidence interval (CI) 1.45–3.77], which also represented a significant excess risk compared with all other admitted maternal disorders (p=0.018). Risk of death from causes other than birth defect was no higher with schizophrenia than with other maternal conditions. There was no elevation in risk of fatal birth defect if the father was admitted with schizophrenia or any other psychiatric diagnosis.ConclusionsThere are many possible explanations for a higher risk of fatal birth defect with maternal schizophrenia and affective disorder. These include genetic effects directly linked with maternal illness, lifestyle factors (diet, smoking, alcohol and drugs), poor antenatal care, psychotropic medication toxicity, and gene–environment interactions. Further research is needed to elucidate the causal mechanisms.

scholarly journals Changes in Frequencies of Select Congenital Anomalies since the Onset of Folic Acid Fortification in a Canadian Birth Defect Registry

2008 ◽  
Vol 99 (4) ◽  
pp. 271-275 ◽  
Author(s):  
Kimberly A. Godwin ◽  
Barbara Sibbald ◽  
Tanya Bedard ◽  
Boris Kuzeljevic ◽  
R. Brian Lowry ◽  
...  
Keyword(s):  
Folic Acid ◽  
Congenital Anomalies ◽  
Birth Defect ◽  
Folic Acid Fortification ◽  
Birth Defect Registry

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

2021 ◽  
pp. 105566562110100
Author(s):  
Maria Luisa Navarro Sanchez ◽  
Renata H. Benjamin ◽  
Laura E. Mitchell ◽  
Peter H. Langlois ◽  
Mark A. Canfield ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Population Based ◽  
Orofacial Clefts ◽  
Developmental Mechanisms ◽  
Using Data ◽  
Occurrence Patterns ◽  
Population Based Registry

Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently. We calculated adjusted observed-to-expected ( O/ E) ratios to account for the known tendency of birth defects to cluster nonspecifically. Results: Among infants without a syndrome, 23% with CP and 21% with CL±P had at least 1 additional congenital anomaly. Several combinations of defects were observed much more often than expected. For example, the combination of CL±P, congenital hydrocephaly, anophthalmia, and other nose anomalies had an O/ E ratio of 605. For both CP and CL±P, co-occurrence patterns with the highest O/ E ratios involved craniofacial and brain abnormalities, and many included the skeletal, cardiovascular, and renal systems. Conclusions: The patterns of defects we observed co-occurring with clefts more often than expected may help improve our understanding of the relationships between multiple defects. Further work to better understand some of the top defect combinations could reveal new phenotypic subgroups and increase our knowledge of the developmental mechanisms that underlie the respective defects.

Population Prevalence Rates of Birth Defects: A Data Management and Epidemiological Perspective

2005 ◽  
Vol 34 (3) ◽  
pp. 94-99 ◽  
Author(s):  
Merilyn Riley
Keyword(s):  
Data Management ◽  
Birth Defects ◽  
Prevalence Rate ◽  
Surveillance System ◽  
Birth Defect ◽  
Population Based ◽  
Prevalence Rates ◽  
Accuracy Rate ◽  
Defect Rate ◽  
Population Prevalence

The Victorian Birth Defects Register (VBDR) is a population-based surveillance system with a primary function of monitoring trends in birth defects. This paper outlines the processes undertaken in Victoria, Australia, to obtain population prevalence rates of birth defects and investigates the effect on the prevalence rates of variations in collection and processing tasks. It includes all birth defects that were notified to the VBDR by 31 December 2004. The overall prevalence rate of birth defects in Victoria for 2003 was 4.0%, with an overall accuracy rate of 88%. However, this proportion varied according to what birth defects were included, the age by which birth defects were diagnosed, changes to sources of ascertainment, inclusion of terminations of pregnancy, or reporting by cases rate (infants affected) or birth defect rate (individual birth defects). Taking all of these factors into consideration, we are confident that 4.0% is an accurate population prevalence rate of birth defects in Victoria for 2003.

FETAL DYSMORPHOLOGY

2012 ◽  
Vol 23 (1) ◽  
pp. 52-70
Author(s):  
JILL CLAYTON-SMITH
Keyword(s):  
Standard Procedure ◽  
Population Based ◽  
European Population ◽  
Fetal Abnormality ◽  
Fetal Autopsy ◽  
Fetal Abnormalities ◽  
Live Births ◽  
Non Invasive ◽  
Dysmorphic Features ◽  
The Uk

Congenital malformations are common, occurring in around 1 in 40 pregnancies. Analysis of data from European population-based congenital anomaly registers reported a malformation rate of 29.3 per 1000 births. Eighty percent of these were in live births whereas 17% were observed in fetuses terminated after ultrasound diagnosis of fetal abnormality. The remainder were stillborn or fetal deaths in utero. Fetal autopsy is still regarded as the gold standard procedure for identification of fetal abnormalities but assessment of the fetus by a clinical geneticist or other specialist with expertise in dysmorphology may also be informative. When coupled with other investigations which are non-invasive or involve only sampling of blood or other body fluids, examination for external malformations and dysmorphic features may complement autopsy findings or provide important information as to the causation of fetal abnormalities when autopsy is not possible. This situation is now becoming more common as rates of fetal autopsy have dropped significantly in the UK in recent years.

scholarly journals Birth defects surveillance after assisted reproductive technology in Beijing: a whole of population-based cohort study

BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e044385
Author(s):  
Lu Zhang ◽  
Wen Zhang ◽  
Hongyan Xu ◽  
Kaibo Liu
Keyword(s):  
Cohort Study ◽  
Assisted Reproductive Technology ◽  
Birth Defects ◽  
Birth Defect ◽  
Chromosomal Abnormalities ◽  
Circulatory System ◽  
Population Based ◽  
Reproductive Technology ◽  
Confounding Factors ◽  
Increased Risk

ObjectivesTo compare the differences in the prevalence of birth defects among offspring conceived by assisted reproductive technology (ART) and conceived spontaneously (non-ART), and assess the contribution of ART to birth defects.DesignA population-based retrospective cohort study.SettingBeijing.ParticipantsPregnant women whose expected date of childbirth was verified as occurring between October 2014 and September 2015, and were registered on the Beijing Maternal and Child Health Information Network System, were the recorded pregnancy outcomes. 2699 ART offspring and 191 368 non-ART offspring (live births, stillbirths and medical terminations) were included in our study.InterventionsNone.Outcome measuresRisk ratios (RR) for birth defects were calculated among ART conceptions and non-ART conceptions with confounding factors by using logistic regression models.Results194 067 offspring were included in the present study, and 2699 (1.4%) were conceived using ART. Among all the births, the prevalence of any birth defect in the ART offspring (5.5%) was significantly higher than in the non-ART offspring (3.8%) (crude RR, 1.49, 95% CI 1.26 to 1.76). After adjusting for confounding factors, ART use was still associated with an increased risk of any birth defect (5.4% vs 3.5% in ART and non-ART group, adjusted RR (aRR), 1.43, 95% CI 1.08 to 1.90), especially for chromosomal abnormalities (0.5% vs 0.2% in ART and non-ART group, aRR, 3.11, 95% CI 1.28 to 7.58), in singleton births to mothers <35 years. Circulatory system malformations and musculoskeletal system malformations were observed to have a non-significant increase in offspring conceived by ART. However, the associations between ART and birth defects were not detected in multiple births or mothers ≥35 years.ConclusionsThis study confirmed a small but significant association between ART and birth defects. However, the risk tends to be non-significant under the conditions of advanced maternal age or multiple pregnancies.

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