Congenital limb reduction defects in 1.6 million births in Argentina

Alberto, Guillermo; Barbero, Pablo; Liascovich, Rosa; Bidondo, María Paz; Groisman, Boris

doi:10.1002/ajmg.a.61528

Cited by 7 publications

(4 citation statements)

References 27 publications

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“…The prevalence of many specific defects appeared to be consistent with the reported or accepted global prevalence, including congenital heart defects, talipes equinovarus, hypospadias, cleft lip-palate, cleft lip, cleft palate, limb reduction, anal atresia, anotia/microtia, omphalocele, and bladder exstrophy 22,[37][38][39][40][41][42][43][44][45][46][47] . However, the prevalences of some specific defects seem to be lower than the reported or accepted global prevalences, such as Table 7.…”

Section: Discussionsupporting

confidence: 77%

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Zhou,

Cai,

Wang

et al. 2023

Sci Rep

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To define the relationship between sex, residence, maternal age, and a broad range of birth defects by conducting a comprehensive cross-analysis based on up-to-date data. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2010–2020. Prevalences of birth defects (number of cases per 10,000 fetuses (births and deaths at 28 weeks of gestation and beyond)) with 95% confidence intervals (CI) were calculated by sex, residence, maternal age, year, and 23 specific defects. Cross-analysis of sex, residence, and maternal age was conducted, and crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with birth defects. A total of 1,619,376 fetuses and 30,596 birth defects were identified. The prevalence of birth defects was 188.94/10,000 (95% CI 186.82–191.05). Birth defects were more frequent in males than females (210.46 vs. 163.03/10,000, OR = 1.30, 95% CI 1.27–1.33), in urban areas than in rural areas (223.61 vs. 162.90/10,000, OR = 1.38, 95% CI 1.35–1.41), and in mothers ≥ 35 than mothers 25–29 (206.35 vs. 187.79/10,000, OR = 1.10, 95% CI 1.06–1.14). Cross-analysis showed that the prevalence of birth defects was higher in urban females than in rural males (194.53 vs. 182.25/10,000), the difference in prevalence between males and females was more significant for maternal age < 20 compared to other age groups (OR = 1.64, 95% CI 1.37–1.95), and the prevalence difference between urban and rural areas is more significant for maternal age 25–34 compared to other age groups (OR = 1.49, 95% CI 1.43–1.57). Cleft palates were more frequent in males, and nine specific defects were more frequent in females. Five specific defects were more frequent in rural areas, and eight were more frequent in urban areas. Compared to mothers 25–29, five specific defects were more frequent in mothers < 20, seven specific defects were more frequent in mothers 20–24, two specific defects were more frequent in mothers 30–34, and ten specific defects were more frequent in mothers ≥ 35. Our data indicate that sex, residence, and maternal age differences in the prevalences of birth defects and most specific defects are common. We have found some new epidemiological characteristics of birth defects using cross-analysis, such as residence is the determining factor for the prevalence of birth defects, the difference in prevalence between males and females was more significant for maternal age < 20 compared to other age groups, the prevalence difference between urban and rural areas is more significant for maternal age 25–34 compared to other age groups. And differences in the epidemiological characteristics of some specific defects from previous studies. Future studies should examine mechanisms. Our findings contributed to clinical counseling and advancing research on the risk factors for birth defects.

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Section: Discussionsupporting

confidence: 77%

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Zhou,

Cai,

Wang

et al. 2023

Sci Rep

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“…LRDs of one limb less often have a genetic cause, compared to LRDs of multiple limbs (Cobben, Hiemstra, & Robinson, 1994; Firth & Hurst, 2017; Harper, 2010), but only few studies have substantiated this. Previous epidemiological studies regarding LRDs have reported prevalence rates (general and per subcategory), the affected side (left: right ratio), symmetry, associated malformations, and diagnoses (Alberto, Barbero, Liascovich, Bidondo, & Groisman, 2020; Bedard, Lowry, Sibbald, Crawford, & Kiefer, 2018; Bedard, Lowry, Sibbald, Kiefer, & Metcalfe, 2015; Evans, Vitez, & Czeizel, 1994; Klungsoyr et al, 2019; Koskimies, Lindfors, Gissler, Peltonen, & Nietosvaara, 2011; Vasluian et al, 2013). To our knowledge there has only been one retrospective cohort study, which analyzed diagnosis rates in patients with uni‐ versus bilateral preaxial longitudinal defects of the upper limb ( n = 119) (James, Green, McCarroll, & Manske, 2004).…”

Section: Introductionmentioning

confidence: 99%

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands

Bergman

Löhner

Sluis

et al. 2020

American J of Med Genetics Pt A

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Limb reduction defects (LRDs) that affect multiple limbs are considered to be more often heritable, but only few studies have substantiated this. We aimed to investigate if an etiological diagnosis (genetic disorder or clinically recognizable disorder) is more likely to be made when multiple limbs are affected compared to when only one limb is affected. We used data from EUROCAT Northern Netherlands and included 391 fetuses and children with LRDs born in 1981-2017. Cases were classified as having a transverse, longitudinal (preaxial/postaxial/central/mixed), intercalary, or complex LRD of one or more limbs and as having an isolated LRD or multiple congenital anomalies (MCA). We calculated the probability of obtaining an etiological diagnosis in cases with multiple affected limbs versus one affected limb using relative risk (RR) scores and Fisher's exact test. We showed that an etiological diagnosis was made three times more often when an LRD occurred in multiple limbs compared to when it occurred in one limb (RR 2.9, 95% CI 2.2-3.8, p < 0.001). No genetic disorders were found in isolated cases with only one affected limb, whereas a genetic disorder was identified in 16% of MCA cases with one affected limb. A clinically recognizable disorder was found in 47% of MCA cases with one affected limb. Genetic counseling rates were similar. We conclude that reduction defects of multiple limbs are indeed more often heritable. Genetic testing seems less useful in isolated cases with one affected limb, but is warranted in MCA cases with one affected limb.

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“…Limb reduction defects are congenital anomalies characterized by the absence or severe hypoplasia of a complete or a part of a limb. The reported prevalence of congenital limb deficiency is 1 in 2000 1 . The possible causes include chromosomal anomalies, for example, Trisomy 18, monogenic syndromes, for example, Fanconi anemia, teratogens, or other environmental exposures.…”

Section: Introductionmentioning

confidence: 99%

“…The reported prevalence of congenital limb deficiency is 1 in 2000. 1 The possible causes include chromosomal anomalies, for example, Trisomy 18, monogenic syndromes, for example, Fanconi anemia, teratogens, or other environmental exposures. Still, the etiology is unknown in most cases.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of fetal limb anomalies

Thakur

Chaddha²,

Gupta³

et al. 2022

J of Clinical Ultrasound

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Purpose Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. Methods We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. Results 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo‐esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non‐isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC‐E gene confirming fanconi anemia. Twelve cases were unclassified. Conclusion Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first‐tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.

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Congenital limb reduction defects in 1.6 million births in Argentina

Cited by 7 publications

References 27 publications

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands

Spectrum of fetal limb anomalies

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