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Animals : An Open Access Journal From... Dec 2023Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in...
Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2-C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly-anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects.
PubMed: 38136919
DOI: 10.3390/ani13243882 -
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 -
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 -
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 -
JAMA Network Open Mar 2024India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective...
IMPORTANCE
India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective pregnancy terminations, and child mortality; India contributes a large proportion of the global burden of SBA. Thirty years after folic acid was shown to be effective in reducing SBA prevalence, only about one-quarter of such births are prevented globally through cereal grain fortification.
OBJECTIVE
To determine the association of folic acid-fortified iodized salt with serum folate concentrations among nonpregnant and nonlactating women of reproductive age.
DESIGN, SETTING, AND PARTICIPANTS
This nonrandomized controlled trial using a preintervention and postintervention design was conducted in 4 rural villages in Southern India from July 1 to November 30, 2022. All households in the villages agreed to participate in the study. Preintervention and postintervention serum folate levels were analyzed among study participants at baseline and after 4 months, respectively.
INTERVENTION
Consumption of approximately 300 µg/d of folic acid using double fortified salt (folic acid plus iodine). Median serum folate concentrations were assessed at baseline and 4 months.
MAIN OUTCOMES AND MEASURES
Change in median serum folate levels between baseline and study end point as the primary outcome of the study.
RESULTS
A total of 83 nonpregnant nonlactating women aged 20 to 44 years (mean [SD] age, 30.9 [5.1] years) were eligible for the study and provided serum samples for analysis at baseline and the end point of the intervention. The median serum folate concentration increased from 14.6 (IQR, 11.2-20.6) nmol/L at baseline to 54.4 (IQR, 43.5-54.4) nmol/L at end of study, a 3.7-fold increase from baseline to study end point. Two-tailed Wilcoxon signed rank test showed the median difference in preintervention and postintervention serum folate concentrations to be highly significant (P < .001). The participants found the salt acceptable in color and taste.
CONCLUSIONS AND RELEVANCE
Use of folic acid-fortified iodized salt was associated with increased serum folate concentrations in women of reproductive age. This novel evidence can inform public health policy to accelerate SBA prevention.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT06174883.
Topics: Adult; Female; Humans; Folic Acid; Food, Fortified; Iodine; Neural Tube Defects; Sodium Chloride, Dietary; Spinal Dysraphism; Young Adult
PubMed: 38457177
DOI: 10.1001/jamanetworkopen.2024.1777 -
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 -
Archives of Gynecology and Obstetrics Dec 2023To explore pathogenic/likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations.
OBJECTIVE
To explore pathogenic/likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations.
METHODS
A cohort of 539 fetuses with CNS malformations diagnosed by ultrasound/MRI was retrospectively analyzed between January 2016 and December 2019. All fetuses were analyzed by chromosomal microarray analysis (CMA). Three cases with ROHs detected by CMA were subjected to whole-exome sequencing (WES). The fetuses were divided into two groups according to whether they had other structural abnormalities. The CNS phenotypes of the two groups were further classified as simple (one type) or complicated (≥ 2 types).
RESULTS
(1) A total of 35 cases with P/LP CNVs were found. The incidence of P/LP CNVs was higher in the extra-CNS group [18.00% (9/50)] than in the isolated group [5.32% (26/489)] (P < 0.01), while there was no significant difference between the simpletype and complicated-type groups. (2) In the simple-type group, the three most common P/LP CNV phenotypes were holoprosencephaly, Dandy-Walker syndrome, and exencephaly. There were no P/LP CNVs associated with anencephaly, microcephaly, arachnoid cysts, ependymal cysts, or intracranial hemorrhage. (3) Only four cases with ROHs were found, and there were no cases of uniparental disomy or autosomal diseases.
CONCLUSION
The P/LP CNV detection rates varied significantly among the different phenotypes of CNS malformations, although simple CNS abnormalities may also be associated with genetic abnormalities.
Topics: Pregnancy; Female; Humans; DNA Copy Number Variations; Retrospective Studies; Fetus; Nervous System Malformations; Microarray Analysis; Central Nervous System Diseases; Prenatal Diagnosis; Chromosome Aberrations
PubMed: 36464758
DOI: 10.1007/s00404-022-06866-w -
Pediatric Research Jan 2024The relationship between maternal physical activity (PA)/sitting and birth defects is largely unexplored. We examined whether pre-pregnancy PA/sitting were associated...
BACKGROUND
The relationship between maternal physical activity (PA)/sitting and birth defects is largely unexplored. We examined whether pre-pregnancy PA/sitting were associated with having a pregnancy affected by a birth defect.
METHODS
We used data from two United States population-based case-control studies: 2008-2011 deliveries from the National Birth Defects Prevention Study (NBDPS; 9 states) and 2014-2018 deliveries from the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS; 7 states). Cases with one of 12 non-cardiac birth defects (n = 3798) were identified through population-based registries. Controls (n = 2682) were live-born infants without major birth defects randomly sampled using vital/hospital records. Mothers self-reported pre-pregnancy PA/sitting. Unconditional logistic regression models estimated associations between PA/sitting categories and the 12 birth defects.
RESULTS
Mothers engaging in pre-pregnancy PA was associated with a reduced odds of five (spina bifida, cleft palate, anorectal atresia, hypospadias, transverse limb deficiency) and a higher odds of two (anencephaly, gastroschisis) birth defects. Mothers spending less time sitting in pre-pregnancy was associated with a reduced odds of two (anorectal atresia, hypospadias) and a higher odds of one (cleft lip with or without cleft palate) birth defect.
CONCLUSIONS
Reasonable next steps include replication of these findings, improved exposure assessment, and elucidation of biologic mechanisms.
IMPACT
Using data from two population-based case-control studies, we found that mothers engaging in different types of physical activity in the 3 months before pregnancy had an infant with a reduced odds of five and a higher odds of two birth defects. Mothers spending less time sitting in the 3 months before pregnancy had an infant with a reduced odds of two and a higher odds of one birth defect. Clarification and confirmation from additional studies are needed using more precise exposure measures, distinguishing occupational from leisure-time physical activity, and elucidation of mechanisms supporting these associations.
Topics: Male; Pregnancy; Female; Humans; United States; Cleft Palate; Hypospadias; Anorectal Malformations; Case-Control Studies; Exercise; Risk Factors
PubMed: 37543708
DOI: 10.1038/s41390-023-02768-y -
Child's Nervous System : ChNS :... Apr 2024Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the... (Review)
Review
UNLABELLED
Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania.
INTRODUCTION
The clinical landscape of acalvaria is scarcely populated, with the malformation often signifying a dire prognosis. Despite the embryological origin and pathogenesis remaining largely enigmatic, it has critical implications for the prenatal and postnatal therapeutic strategies. We investigate a case coupled with a comprehensive literary review to present a clearer clinical portrait and advance the alertness about this lethal anomaly among healthcare providers.
DISCUSSION
The rarity of acalvaria constrains the establishment of a definitive incidence rate or a standardized treatment protocol. Varied associations with other neurological and systemic anomalies pose a significant ambiguity regarding its etiopathogenesis. Differential diagnosis remains intricate, relying on nuanced ultrasonographic examinations and an informed interpretation of embryological developments.
CONCLUSION
Through our report of an acalvaria-affected newborn undetectable in prenatal ultrasound, we highlight the implications of rarity - the obstacle in uniform diagnosis and the resultant therapeutic challenge. The discussion fosters a need for heightened awareness and consolidating case reports to nurture clinical consensus. Furthermore, it underscores the necessity for multifaceted research efforts towards understanding etiology and optimizing treatment modalities.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Skull; Neural Tube Defects
PubMed: 38151547
DOI: 10.1007/s00381-023-06266-8 -
Genes Aug 2023In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally...
In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation.
Topics: Infant, Newborn; Humans; Cleft Palate; Face; Brain; Central Nervous System
PubMed: 37761885
DOI: 10.3390/genes14091745