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Birth Defects Research Jun 2024Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are...
BACKGROUND
Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification.
METHODS
Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied.
RESULTS
Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null.
CONCLUSIONS
Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.
Topics: Humans; Female; Drinking Water; Neural Tube Defects; Pregnancy; Maternal Exposure; Disinfection; Adult; Case-Control Studies; Disinfectants; Water Purification; Trihalomethanes; Male; Water Pollutants, Chemical; Prenatal Exposure Delayed Effects; Spinal Dysraphism
PubMed: 38888449
DOI: 10.1002/bdr2.2370 -
Acta Medica Philippina 2024We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a...
We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.
PubMed: 38846167
DOI: 10.47895/amp.vi0.6712 -
Journal of Community Genetics Jun 2024Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies...
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).
PubMed: 38822971
DOI: 10.1007/s12687-024-00714-x -
Child's Nervous System : ChNS :... Jun 2024Acalvaria, or acrania, is a rare congenital cranial vault defect with neurocranium absences, including complete or part of calvaria flat bones, dura mater, and...
BACKGROUND
Acalvaria, or acrania, is a rare congenital cranial vault defect with neurocranium absences, including complete or part of calvaria flat bones, dura mater, and associated muscles, but with a still present in the central nervous system, skull base, facial bones, and skin-covered the defect. It is a sporadic incidence without apparent genetic factors confirmed. Acalvaria is often misdiagnosed as anencephaly; the distinguishable difference is that anencephaly has an absence (partial or complete) of the brain tissue, including the skull and scalp. Acalvaria is considered a fatal anomaly with a low survival rate, and only a few cases of extended survival have been reported until now. To the best of the author's knowledge, no acalvaria case has been published in Papua, and only one reported case of the coexistence of acalvaria with schizencephaly in Brazil (2018).
CASE REPORT
Herein, we present a case of an indigenous South Papuan living newborn with primary acalvaria and open-lip schizencephaly in a frontoparietal region. A male newborn baby was born from a 39-year-old female Marind-Anim tribe patient with a 38th week of gestation, with no previous history of miscarriage, is not a consanguineous marriage, and had an unremarkable medical history during this pregnancy. Post-natal physical examinations showed an irregularly shaped head with 11.5 cm diameter concave of the right side, with a soft brain-like consistency palpable and the absence of half right frontoparietal calvarium covered with a presence of scalp and hair. Cranial 2-dimension ultrasonography shows an absence of half right frontoparietal calvaria bone with a complete presence of scalp and periosteum covering the defect with a fluid accumulation (anechoic) below the periosteum. A transverse axis view shows a complete structure but hypoplasia of brain cortex with visible slightly dysgenesis of gyrus and sulcus in both hemispheres convincing the acalvaria condition not anencephaly. A fluid accumulation above brain parenchyma of the frontoparietal region happened to be a cerebrospinal fluid coming from a wide-open cleft extending from the left lateral and fourth ventricles to the cerebral cortex, suggesting a typical condition of open-lip schizencephaly. Further health follow-ups until 6 months old showed still normal physical and behavioral development with no sign of complications.
CONCLUSIONS
No standard acalvaria treatment is being established; conservative and supportive therapy is mostly taken considering their low survival rate. With the advancement of medical technology nowadays, surgical approaches, including scalp defect closure, bone graft, and 3D-printed defect filling, are being performed and have succeeded in a few cases. Long-term follow-up is required to monitor their neuro-psychological development and complication incidences that need further intervention.
PubMed: 38822831
DOI: 10.1007/s00381-024-06473-x -
Fetal and Pediatric Pathology May 2024We describe five abnormal crania which may provide more diagnostic data for assessment of abnormal crania in newborns.
INTRODUCTION
We describe five abnormal crania which may provide more diagnostic data for assessment of abnormal crania in newborns.
METHODS
Five malformed perinatal crania from the Saxtorphian Collection are described using published prenatal abnormal cranial development criteria. These malformations were compared to normal cranial development arising from the migration of neural crest cells. Visual and photographic investigations were performed.
RESULTS
The malformed crania were occipital encephalocele, holoprosencephaly, anencephaly, and two without a recognizable diagnosis. The anthropological crania were malformed in the same regions as formerly observed in fetal pathology. These regions were comparable to fields formed during normal cell migration from the neural crest. This has seemingly not previously been demonstrated. One undiagnosed cranium may represent a Treacher Collins syndrome (Case 3). The other undiagnosed cranium (Case 4) could be from a scaphocephalic specimen.
DISCUSSION
Sharp borderlines between malformed and non-malformed regions in cranial syndromes may enable improvement in diagnostics.
PubMed: 38817107
DOI: 10.1080/15513815.2024.2338434 -
Contraception May 2024To determine how obstetrician-gynecologists categorize pregnancy-ending interventions in the setting of lethal fetal anomalies.
OBJECTIVES
To determine how obstetrician-gynecologists categorize pregnancy-ending interventions in the setting of lethal fetal anomalies.
STUDY DESIGN
We conducted a sequential explanatory mixed-methods study of U.S. obstetrician-gynecologists from May to July 2021. We distributed a cross-sectional online survey via email and social media and completed qualitative telephone interviews with a nested group of participants. We assessed institutional classification as induced abortion versus indicated delivery for six scenarios of ending a pregnancy with lethal anomalies after 24 weeks, comparing classification using McNemar chi-square tests with Benjamini-Hochberg correction for multiple comparisons with a false discovery rate of 0.05. We performed the thematic analysis of qualitative data and then performed a mixed-methods analysis.
RESULTS
We included 205 respondents; most were female (84.4%), had provided abortion care (80.2%), and were general OB/GYNs (59.3%), with broad representation across pre-Dobbs state and institutional abortion policies. Twenty-one qualitative participants had similar characteristics to the whole sample. All scenarios were classified as induced abortion by the majority of respondents, ranging from 53.2% for 32-week induction for anencephaly, to 82.9% for feticidal injection with 24-week induction for anencephaly. Mixed-methods analysis revealed the relevance of gestational age (later interventions less likely to be considered induced abortion) and procedure method and setting (dilation and evacuation, feticidal injection, and freestanding facility all increasing classification as induced abortion).
CONCLUSIONS
There is wide variation in the classification of pregnancy-ending interventions for lethal fetal anomalies, even among trained obstetrician-gynecologists. Method, timing, and location of ending a nonviable pregnancy influence classification, though the perinatal outcome is unchanged.
IMPLICATIONS
The classification of pregnancy-ending interventions for lethal fetal anomalies after 24 weeks as indicated delivery versus induced abortion is reflective of sociopolitical regulatory factors as opposed to medical science. The regulatory requirement for classification negatively impacts access to care, especially in environments where induced abortion is legally restricted.
PubMed: 38763276
DOI: 10.1016/j.contraception.2024.110492 -
BMJ Open May 2024To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube...
OBJECTIVE
To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions.
DESIGN
A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data.
SETTING
The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively.
PARTICIPANTS
All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled.
RESULTS
The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable.
CONCLUSION
This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities.
TRIAL REGISTRATION NUMBER
CTRI/2021/06/034487.
Topics: Humans; Cross-Sectional Studies; Female; India; Pregnancy; Adult; Neural Tube Defects; Prevalence; Young Adult; Adolescent; Middle Aged; Ultrasonography, Prenatal; Anencephaly; Encephalocele; Spinal Dysraphism
PubMed: 38760039
DOI: 10.1136/bmjopen-2023-083057 -
Radiology Case Reports Jul 2024Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet...
Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.
PubMed: 38689815
DOI: 10.1016/j.radcr.2024.03.063 -
Birth Defects Research May 2024Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA)....
BACKGROUND
Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice).
METHODS
We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid. Sixty-eight countries were eligible for analysis with complete data. Proportion of FAP SBA prevention was modeled assuming >150 mcg/day of folic acid fortification protects against FAP SBA, reducing post-fortification prevalence to a lowest achievable level of 0.5 cases per 1000 births.
RESULTS
Our analysis found that a total of 63,520 cases of FAP SBA were prevented in the year 2022 in 68 countries implementing mandatory folic acid fortification of grains with folic acid. This translated to a 23.7% prevention of all possible FAP SBA prevention globally. An excess of 204,430 cases of FAPSBA still occurred in over 100 countries where mandatory staple food fortification with folic acid is not implemented.
CONCLUSION
Our study showed that only a quarter of all FAP SBA cases were averted through mandatory folic acid fortification in the year 2022; many countries are not implementing the policy, resulting in a large proportion of FAP SBA cases that can be prevented. Fortification will help countries with achieving 2030 Sustainable Development Goals on neonatal- and under-five mortality, disability, stillbirths, and elective terminations prevention, from FAP SBA.
Topics: Humans; Folic Acid; Food, Fortified; Anencephaly; Spinal Dysraphism; Female; Global Health; Prevalence; Pregnancy; Flour; Edible Grain
PubMed: 38688860
DOI: 10.1002/bdr2.2343 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Apr 2024Objective To analyze the incidence rate of birth defects in infants born at different gestational ages and birth weights,so as to provide a basis for improving the...
Objective To analyze the incidence rate of birth defects in infants born at different gestational ages and birth weights,so as to provide a basis for improving the surveillance system and reducing the incidence of birth defects. Methods Data of all perinatal infants born at and after 28 weeks of gestation and within 7 days after delivery in all the hospitals with the obstetrical department from October 1,2003 to September 30,2015 were collected. Results From 2003 to 2015,1 236 937 perinatal infants were monitored,including 10 619 with birth defects (incidence rate of 8.59‰).Among the infants with birth defects identified by the hospital surveillance system of birth defects in Xi'an during the study period,3 306,3 473,and 224 infants showed the birth weights less than 2 500 g,the gestational age within the range of [28,37] weeks,and the gestation age≥42 weeks,respectively.The low birth weight infants showed higher incidence rate of birth defects than the normal birth weight infants (=37 097.79,<0.001).The premature infants (gestational age<37 weeks) and postterm infants (gestational age≥42 weeks) showed higher incidence rates of birth defects than infants born at normal gestational age (=24 998.24,<0.001;=196.40,<0.001).The top five birth defects of low birth weight infants were congenital hydrocephalus,spina bifida,congenital heart disease,anencephaly,and cleft lip and cleft palate.The outcomes of birth defects in normal weight infants and low weight infants were mainly live births (68.60%) and stillbirths (54.72%),respectively,which showed a significant difference (=647.59,<0.001).The main outcomes of birth defects in the infants born at normal gestation age,postterm infants,and premature infants were mainly live births (77.38%),live births (83.93%),and stillbirths (57.79%),respectively,which showed significant differences (premature infants infants born at normal gestation age: =2 025.08,<0.001;premature infants postterm infants:=245.39,<0.001;infants born at normal gestation age postterm infants:=16.28,=0.001). Conclusions Premature infants,low birth weight infants,and postterm infants showed significantly higher incidence rate of birth defects than the infants born at normal gestation age.The outcomes of birth defects had significant differences between low birth weight infants and normal birth weight infants,between premature infants and infants born at normal gestation age,between premature infants and postterm infants,and between infants born at normal gestation age and postterm infants.
Topics: Humans; Congenital Abnormalities; Infant, Newborn; Birth Weight; Female; Gestational Age; Pregnancy; Incidence; Infant, Low Birth Weight
PubMed: 38686716
DOI: 10.3881/j.issn.1000-503X.15436