Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births

Stoll, Claude; Alembik, Yves; Dott, B; Roth, Marie‐Paule

doi:10.1016/s0003-3995(01)01094-2

Cited by 125 publications

(167 citation statements)

References 34 publications

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“…Smoking has been relatively common amongst fertile Norwegian women, also during pregnancy, and especially amongst the youngest (4). However, in AO the age group-specific incidence of gastroschisis did not reflect the pattern of increasing prevalence of smoking amongst young women in Russia during the last decade (5,6).…”

Section: Discussionmentioning

confidence: 78%

“…In terms of Congenital defects in the Arctic omphalocele, an implication of teratogens has not been conclusively reported, and isolated cases have been considered sporadic (7). When the risk of omphalocele has been associated with increasing maternal age, it has been related to a concurrent presence of certain chromosomal and genetic syndromes and other anomalies, just like the recurrence risk (5,7). The only vaguely apparent association with maternal age group in our study populations was a slight U-shaped distribution, which was also reported by Kazaura et al This fell in line with that reported by Reefhuis and Honein about an elevated risk of omphalocele in the age group 4-9 compared with the age group 5-9 (adjusted for parity) (0).…”

Section: Discussionmentioning

confidence: 99%

“…The program has been connected to the federal population-based genetic register, which was focused on inherited diseases and anomalies (,4). As a part of the above program, a regional registry of congenital defects was established in Moscow in 999, and it became a member of the ICBD in 00 (5).…”

Section: Methodsmentioning

confidence: 99%

“…In gastroschisis, the intestine herniates through a split in the abdominal wall due to an incomplete closure of the lateral body folds when the wall is formed during the fourth week of development (). An association between these defects and stillbirth/spontaneous abortion has been reported (4,5), but most of the affected liveborn survive (6). The aetiology and incidence of these defects differ (7); for gastroschisis, teratogens are implicated (8), whereas foetuses with omphalocele also tend to have other anomalies and abnormalities (4,5).…”

Section: Introductionmentioning

confidence: 99%

“…An association between these defects and stillbirth/spontaneous abortion has been reported (4,5), but most of the affected liveborn survive (6). The aetiology and incidence of these defects differ (7); for gastroschisis, teratogens are implicated (8), whereas foetuses with omphalocele also tend to have other anomalies and abnormalities (4,5). A previous study of gastroschisis in Norway reported an increasing incidence at birth in the period 967-998 (9).…”

Section: Introductionmentioning

confidence: 99%

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The incidence and maternal age distribution of abdominal wall defects in Norway and Arkhangelskaja Oblast in Russia

Petrova

Vaktskjold

2009

International Journal of Circumpolar Health

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Objectives. To determine the foetal incidence of isolated anterior abdominal wall defects (gastroschisis and omphalocele) in the Arkhangelskaja Oblast (AO) in Russia and in Norway, as well as to study the maternal -age distribution of these defects. Study Design. A register -based incidence study. Methods. All registered foetuses and newborns with at least weeks of gestation in the populations of AO (4,59) and Norway (9,708) were included. The data covered the period 995-004 in AO and 999-00 in Norway and were obtained from the malformation register in AO and the Medical Birth Registry of Norway. Results. The majority of the outcomes with a defect were liveborn in Norway (65%), while in AO the majority were spontaneously or medically aborted (59%). The incidence of anterior abdominal wall defects was 5.4/10,000 (95% confidence limits: ±1.7) in AO and 5.1/10,000 (±0.8) in Norway, and the ratio of omphalocele to gastroschisis was . in AO vs. 0.9 in Norway. Gastroschisis was inversely associated with maternal age in Norway. Conclusions. Despite a difference in maternal age distribution, there was no difference in the incidence of abdominal wall defects in AO and Norway. Gastroschisis was associated with young maternal age only in Norway, and the higher incidence in maternal age groups younger than 5 warrants further studies about aetiological factors associated with young maternal age.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

The incidence and maternal age distribution of abdominal wall defects in Norway and Arkhangelskaja Oblast in Russia

Petrova

Vaktskjold

2009

International Journal of Circumpolar Health

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First‐year mortality rates for selected birth defects, Hawaii, 1986–1999

Forrester¹,

Merz²

2003

American J of Med Genetics Pt A

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Birth defects have been the leading cause of infant death in the United States for over the last decade. However, there is little population-based data on the first-year mortality rates for many specific birth defects and the factors that may affect these mortality rates. This investigation examined the first-year mortality rates for 54 selected birth defects of various organ systems in Hawaii during 1986-1999 using data from a population-based birth defects registry and evaluated the impact of the presence of chromosomal abnormalities and other structural birth defects and the year of delivery on the mortality rates. Mortality rates varied widely by defect, being highest for anencephaly (100%), trisomy 13 (82%), and trisomy 18 (74%), while no first-year deaths were reported for glaucoma, bladder exstrophy, and persistent cloaca. The majority (36 of 54 or 67%) of the birth defects had a mortality rate of less than 25%. Among the 51 structural birth defects, 38 (75%) had higher first-year mortality rate for cases with chromosomal abnormalities and 42 (82%) had higher first-year mortality rates for cases with other major structural birth defects. The mortality rate among 1986-1992 deliveries was higher than the mortality rate among 1993-1999 deliveries for 37 (69%) of the 54 birth defects. This study indicates that first-year mortality rates vary widely by type of birth defect, although the mortality rate for the majority of birth defects is relatively low. The presence of a chromosomal abnormality or other structural birth defect increases the mortality rate, and mortality rates for the majority of birth defects have declined in Hawaii during the study period.

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Mutations in PITX2 may contribute to cases of omphalocele and VATER‐like syndromes

Katz

Schultz

Semina

et al. 2004

American J of Med Genetics Pt A

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Omphalocele is a congenital anomaly with substantial morbidity. Rieger syndrome, an autosomal dominant disorder, is characterized by craniofacial abnormalities and abdominal wall defects. PITX2 mutations are etiologic in >40% of cases of Rieger syndrome. We demonstrate that the birth prevalence of omphalocele is significantly higher in Rieger syndrome than in the general population, with omphaloceles found in 0.03% in the Iowa newborn population and 4.3% of patients with Rieger syndrome. Our objective was to screen coding and conserved non-coding regions of PITX2 for mutations in 209 patients with omphalocele. We identified remarkable evolutionarily conserved regions by comparing the 3'UTR of Pitx2 in 13 vertebrate and 3 invertebrate species. No mutations changing the amino acid sequence were found within the omphalocele population. In one case of omphalocele with VATER-like additional anomalies, a three nucleotide deletion was found in the 3'UTR. This deletion was not seen in 1,186 controls. Also in the 3'UTR, we identified a single nucleotide polymorphism at a highly conserved residue. Our findings suggest additional studies of PITX2 conserved regions will be valuable. We also screened the omphalocele cases for mutations in exon 5 of the gene FLNA. Mutations in FLNA have been shown to cause a broad range of congenital malformations, including otopalatodigital syndrome type 2 in which a missense mutation occurring in exon 5 of FLNA results in omphalocele as part of the phenotype. We did not find any mutations in exon 5 of FLNA in 179 omphalocele cases studied.

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Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births

Cited by 125 publications

References 34 publications

The incidence and maternal age distribution of abdominal wall defects in Norway and Arkhangelskaja Oblast in Russia

The incidence and maternal age distribution of abdominal wall defects in Norway and Arkhangelskaja Oblast in Russia

First‐year mortality rates for selected birth defects, Hawaii, 1986–1999

Mutations in PITX2 may contribute to cases of omphalocele and VATER‐like syndromes

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