Congenital Malformations and Birth Defects

1998 ◽  
pp. 70-71
Keyword(s):  
Birth Defects ◽  
Congenital Malformations

scholarly journals Differentiation of urban and rural populations of Kherson region on the frequency of congenital malformations and reproductive losses

2018 ◽  
Vol 22 (1) ◽  
pp. 10-13
Author(s):  
O.G. Lanovenko
Keyword(s):  
Birth Defects ◽  
Congenital Malformations ◽  
Rural Populations ◽  
Developmental Defects ◽  
Statistical Computation ◽  
Reproductive Losses ◽  
Hereditary Component ◽  
Regional Medical ◽  
The Impact

The problem of differential prevalence of congenital malformation and reproductive losses in Ukrainian populations becomes especially relevant in the context of increasing the impact of environmental and genetic and demographic factors that can influence their gene pool. The purpose of the study is to determine, during long-term monitoring, the statistically significant differences between the rural populations of Kherson oblast on the incidence of birth defects, involuntary miscarriages and stillbirths, in order to further identify the causes of detected heterogeneity. In calculating the frequency of these indicators in urban and rural populations, the materials of the regional medical-statistical register (medical form 21, 13, 49) are used. The statistical computation of the results obtained (calculation of confidence intervals and the reliability of the differences) was carried out using STATISTICA and Microsoft Excel 9-2000 programs. It has been established that there are significant differences between urban and rural populations in the prevalence of congenital malformations and reproductive losses. In Kherson, for the period of 2000–2013, the average incidence of developmental defects (37.8±11.3‰) and stillbirths (8.2±1.1‰) significantly exceeded similar rates in rural populations (respectively 23.9±1.4‰ and 4.8±0.6‰). However, in rural populations, the incidence of involuntary miscarriages was significantly higher (31.2 ± 1.9 ‰) than in the oblast center (18.9 ± 2.1 ‰). In addition, according to these indicators there is a significant differentiation between rural populations. The prevalence of birth defects in infants in the region is due to an increase in the frequency of “model” defects (r=0.69, p<0.05), which have a significant hereditary component. It was found that in the urban Kherson population, the relatively high frequency of postnatal violations testifies to the weakening of the “sifting” effect of natural selection. On the contrary, selection in rural populations eliminates most of the non-viable embryos in the early stages of pregnancy, as evidenced by the relatively high prevalence of involuntary miscarriages. In the long term, it is necessary to establish the correlation between the indices of the incidence of congenital and hereditary pathology in populations and the parameters of their genetic and demographic structure.

scholarly journals 16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development

2018 ◽  
Vol 115 (8) ◽  
pp. E1849-E1858 ◽  
Author(s):  
Meade Haller ◽  
Jason Au ◽  
Marisol O’Neill ◽  
Dolores J. Lamb
Keyword(s):  
Transcription Factor ◽  
Birth Defects ◽  
Copy Number ◽  
Congenital Malformations ◽  
Survival Rates ◽  
Hek293 Cells ◽  
High Morbidity ◽  
Cell Cycle Regulators ◽  
Human Embryonic Kidney Cells ◽  
Normal Bladder

Genitourinary (GU) birth defects are among the most common yet least studied congenital malformations. Congenital anomalies of the kidney and urinary tract (CAKUTs) have high morbidity and mortality rates and account for ∼30% of structural birth defects. Copy number variation (CNV) mapping revealed that 16p11.2 is a hotspot for GU development. The only gene covered collectively by all of the mapped GU-patient CNVs was MYC-associated zinc finger transcription factor (MAZ), and MAZ CNV frequency is enriched in nonsyndromic GU-abnormal patients. Knockdown of MAZ in HEK293 cells results in differential expression of several WNT morphogens required for normal GU development, including Wnt11 and Wnt4. MAZ knockdown also prevents efficient transition into S phase, affects transcription of cell-cycle regulators, and abrogates growth of human embryonic kidney cells. Murine Maz is ubiquitously expressed, and a CRISPR-Cas9 mouse model of Maz deletion results in perinatal lethality with survival rates dependent on Maz copy number. Homozygous loss of Maz results in high penetrance of CAKUTs, and Maz is haploinsufficient for normal bladder development. MAZ, once thought to be a simple housekeeping gene, encodes a dosage-sensitive transcription factor that regulates urogenital development and contributes to both nonsyndromic congenital malformations of the GU tract as well as the 16p11.2 phenotype.

scholarly journals Lessons Learned from CNV Analysis of Major Birth Defects

2020 ◽  
Vol 21 (21) ◽  
pp. 8247
Author(s):  
Alina Christine Hilger ◽  
Gabriel Clemens Dworschak ◽  
Heiko Martin Reutter
Keyword(s):  
Birth Defects ◽  
Copy Number ◽  
Congenital Malformations ◽  
De Novo ◽  
Copy Number Variations ◽  
Lessons Learned ◽  
Organ System ◽  
Molecular Karyotyping ◽  
The Past ◽  
Single Organ

The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system.

Neurotomes and birth defects: A neuroanatomic method of interpretation of multiple congenital malformations

1987 ◽  
Vol 28 (S3) ◽  
pp. 29-42 ◽  
Author(s):  
Kathryn North ◽  
Janet McCredie ◽  
John M. Opitz ◽  
Jay Bernstein
Keyword(s):  
Birth Defects ◽  
Congenital Malformations

scholarly journals Congenital Laryngeal Stenosis and Concomitant Birth Defects in a Term Newborn: A Case Report

2020 ◽  
Vol 5 (2) ◽  
pp. 1-7
Author(s):  
Patrycja Tesmer ◽  
Katarzyna Wróblewska-Seniuk ◽  
Jan Mazela ◽  
Jarosław Szydłowski
Keyword(s):  
Case Report ◽  
Respiratory Distress ◽  
Tetralogy Of Fallot ◽  
Birth Defects ◽  
Congenital Malformations ◽  
Laryngeal Stenosis ◽  
Cardiac Anomalies ◽  
Term Newborn ◽  
Life Threatening

Congenital laryngeal stenosis is a rare and unusual anomaly that usually presents in the first minutes after delivery as severe life-threatening respiratory distress. It may exist as an isolated entity or in association with other congenital malformations, in particular cardiac anomalies. In this paper, we present the case of an infant with prenatal suspicion of tetralogy of Fallot. Immediately after delivery, the patient required intubation, which proved difficult. He was eventually diagnosed with laryngeal stenosis requiring laryngological treatment.

LSD Exposure in Utero

PEDIATRICS ◽  
1970 ◽  
Vol 45 (3) ◽  
pp. 466-469
Author(s):  
Richard J. Warren ◽  
David L. Rimoin ◽  
William S. Sly
Keyword(s):  
Birth Defects ◽  
Congenital Malformations ◽  
Additional Data ◽  
In Utero ◽  
The Other ◽  
In Utero Exposure ◽  
Chromosome Damage ◽  
Limb Malformations ◽  
Teratogenic Potential ◽  
The Many

In spite of the many recent reports on the damaging effects of LSD on human chromosome in vitro1,2 and in vivo3-6 and its ability to produce congenital malformations in rodents7, the teratogenic potential of this drug in humans is still uncertain. Two infants with limb malformations who had been exposed to LSD in utero have thus far been reported8,9. On the other hand, Cohen, et al.5, reported nine children and Hulten, et al.6, one child, all of whom had been exposed to LSD in utero and had no obvious birth defects although chromosome damage was apparent. Hecht and his co-workers9 have pointed out the need for additional data on infants who had in utero exposure to LSD, regardless of the presence or absence of congenital malformations, so that the teratogenic properties of the drug could be evaluated.

COMPARATIVE INCIDENCE OF BIRTH DEFECTS IN NEGRO AND WHITE CHILDREN

PEDIATRICS ◽  
1965 ◽  
Vol 36 (1) ◽  
pp. 56-61
Author(s):  
Leonard A. Altemus ◽  
Angella D. Ferguson
Keyword(s):  
Birth Defects ◽  
Congenital Malformations ◽  
District Of Columbia ◽  
Racial Groups ◽  
Socioeconomic Group ◽  
White Children ◽  
Socioeconomic Groups ◽  
Lower Socioeconomic ◽  
Scanty Information ◽  
Birth Records

Studies made during the last 20 years indicate that in mixed, but predominantly [SEE TABLE VI IN PDF SOURCE] Caucasian, racial groups, birth defect occurs in approximately 1 to 4% of all live births. To supplement the scanty information on the incidence of birth defects among North American Negro children the birth records were reviewed for a ten-year period at two hospitals in the District of Columbia. Approximately 60% of all Negro children born in the District of Columbia are delivered in these hospitals. Among these children representing a cross section of the socioeconomic groups of the Negro community, the incidence of birth defects was approximately 6%. There were significant differences in the frequencies at the two hospitals, the hospital with the largest number of births from mothers in the lower socioeconomic group had approximately three times as many defects as the hospital utilized by the higher socioeconomic group. The ten congenital malformations occurring most frequently in a group of predominantly Caucasian Boston children were compared with the ten commonest defects in the District of Columbia group. Six defects, namely, polydactyly, clubfoot, hypospadias, congenital heart disease, mongolism, and cleft palate were among the commonest ten in both groups; the frequencies of these varied. The five congenital malformations occurring most frequently at the two hospitals in the District of Columbia were similar in type and in incidence. Multiple defects were rare in both racial groups and no grouping of defects seemed to occur together more frequently than others.

Birth Defects in Twins: Study in a Spanish Population

1991 ◽  
Vol 40 (3-4) ◽  
pp. 337-344 ◽  
Author(s):  
M.A. Ramos-Arroyo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Birth Defects ◽  
Congenital Malformations ◽  
Collaborative Study ◽  
Congenital Defects ◽  
Relative Risks ◽  
Increased Risk ◽  
The Central Nervous System ◽  
Using Data

AbstractThe risk for specific defects among twins compared to singletons was studied using data collected by the Spanish Collaborative Study of Congenital Malformations (ECEMC). A total of 136 twins had a major and/or minor congenital defect. The overall rate of congenital defects in twins (2.37%) did not deviate significantly from the rate in singletons (2.21%). Like-sex (LS) and male-male (MM) twin pairs had a slightly higher rate of birth defects than unlike-sex (US) and female-female (FF) pairs, respectively. Defects of the central nervous system, cardiovascular system and genitourinary system were significantly more frequent in LS twins than in singletons, with relative risks of 2.8, 2.5 and 1.6, respectively. No significantly increased risk was found among US twins. Among defects of the central nervous system, the rates of anencephaly, encephalocele and hydrocephaly were significantly higher in total and LS twins; however, no significantly increased risk for spina bifida was observed when compared to singletons. MM twins were also 1.9 times more likely to have hypospadias, but the risk among males of male-female (FM) pairs was decreased.

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