Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China

Sun, Ge; Xu, Zheming; Liang, Jianfeng; Lin, Li; Tang, Daxing

doi:10.1007/s12519-011-0328-y

Cited by 34 publications

(19 citation statements)

References 28 publications

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“…Our polydactyly prevalence of 6.45/10,000 live births was comparable to other European prevalence rates of 6.79/10,000 for Belgium, 6.80/ 10,000 for Paris, and 6.6/10,000 for Portugal respectively [10]. The prevalence of this birth defect is much higher in China (22.4/10, 000) [34] and in Alberta, Canada (18.84/10,000) [9]. Prevalence of polydactyly was reported to be lower in Barcelona, Spain (3.06/10,000) [10] and in Lombardy, Italy (5.82/10,000) [27].…”

Section: Discussionsupporting

confidence: 80%

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External birth defects in southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan province

et al. 2013

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BackgroundThere currently exists no data on birth defects from population-based studies in Vietnam. Our study's aim was to assess external birth defect (EBD) prevalence among live newborns in Binh Thuan Province in Vietnam with the help of health workers at all levels of the health system.MethodsA 2-month training session for 452 health professionals (HP) practicing delivery care in 127 Commune Health Stations (CHS) and in 12 provincial or district hospitals (DH) was setup in 2006. After a successful 6-month pilot study, a one-year registry of EBDs was established in 2008. All live newborns were screened for EBDs within 24 hours after birth in all DH obstetric departments and in all CHSs. Trained local HPs collected information by filling out a predesigned form and by photographing the affected newborn. EBDs were coded using the International Classification of Diseases system-10, Clinical Modification. The study was repeated in 2010.ResultsThroughout 2010, out of a total of 13,954 newborns, 84 cases with one or more EBDs were reported, representing an overall prevalence rate of 60.2 per 10,000 live births. The most common groups of EBDs were limbs (27.2/10,000), orofacial clefts (20.1/10,000) and the central nervous system (7.9/10,000).ConclusionsThis first population-based study in Vietnam, which required coordination efforts at the local level, provides baseline prevalences of external birth defects. Data on EBDs from this study in southern Vietnam may be useful for setting up a regional population-based registry of birth defects in Vietnam.

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Section: Discussionsupporting

confidence: 80%

“…It is a defect that is easily detectable after birth and is an isolated finding in 85% - 88% of cases [34]. Our polydactyly prevalence of 6.45/10,000 live births was comparable to other European prevalence rates of 6.79/10,000 for Belgium, 6.80/ 10,000 for Paris, and 6.6/10,000 for Portugal respectively [10].…”

Section: Discussionsupporting

confidence: 76%

External birth defects in southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan province

et al. 2013

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“…1,3 Syndactyly is one of the most commonly observed congenital malformations, affecting an estimated 1 in 2000 to 2500 live births (0.04%-0.05%), with regional occurrence rates ranging between 0.06% to 0.12%. [3][4][5][6] The genetic phenomenon of mosaicism, whereby 2 genetically distinct populations of cells coexist within an individual' s somatic cells or gametes, has been observed in TS1 individuals/ families on at least 3 separate occasions.…”

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confidence: 99%

Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome

Dufendach¹,

Giudicessi

Boczek

et al. 2013

Pediatrics

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The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several other complications. Although full TS1 is caused by a single missense mutation in the CACNA1C-encoded cardiac calcium channel, mosaic TS1 parents can display isolated syndactyly without additional phenotypic manifestations. A newborn boy presented with syndactyly at birth. The presence of syndactyly in his mother led to a diagnosis of benign familial syndactyly. However, at 9 months of age, during his first syndactyly-corrective surgery, intraoperative electrocardiograms revealed extreme QT prolongation and 2:1 atrioventricular block. A comprehensive cardiac evaluation was performed, and both mother and child were tested genetically, confirming a clinical suspicion of TS1. Only the patient tested positive for the TS1 mutation; however, more extensive molecular testing revealed a limited presence of the mutation in maternally-derived DNA. This case illustrates the potential of parental mosaicism to confound the diagnosis of potentially life-threatening genetic diseases, such as TS1. Here, a mother with a partial TS1 phenotype and genetically confirmed mosaicism transmitted the TS1-causative mutation to her son, resulting in fully expressive TS1. Thus, a shared partial phenotype should not be dismissed as a benign or insignificant finding, but should be evaluated further to rule out the possibility of parental mosaicism concealing a potentially fatal heritable disease.

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“…Smaller studies regarding certain areas such as Italy also showed similar rates (Calzolari et al, ). However, it must be kept in mind that the incidences of certain congenital malformations change by time due to health policies or environmental exposures (Hoffmann, ; Sun, Xu, Liang, Li, & Tang, ). There are also several studies showing that the incidence of congenital abnormalities tend to be decreasing in last decade (Yu et al, ).…”

Section: Discussionmentioning

confidence: 99%

5‐year experience of a tertiary center in major congenital abnormalities in singleton pregnancies

Beksaç

Fadıloğlu

Ünal

et al. 2020

Birth Defects Research

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Objective: To demonstrate major congenital abnormalities delivered or terminated at our institution between 2014 and 2018.Materials and Methods: Necessary information was retrieved from the registries of the delivery room and electronic database of Hacettepe University Hospital, Ankara. Results: This study was consisted of 307 major congenital anomalies. The incidence of major congenital anomalies was 2.9 per 1,000 live births, while the majority of the cases were related to cardiovascular, central nervous system, and diaphragmatic hernia with 97, 87, and 25 cases at each group, respectively.Rate of termination of pregnancy (TOP) and live birth were 35.1 and 59.2%, respectively. The overall infant mortality rate was 28.9% in cases with live birth, while this rate was highest in cardiovascular system abnormalities and diaphragmatic hernia. Out of 182 newborns, 92.8% admitted to the neonatal intensive care unit after the delivery. Median gestational week at TOP was 21(20). Conclusion: We have shown that TOP and infant mortality rates were 35.1 and 28.9%, respectively in pregnancies with fetal malformations. Detailed multidisciplinary counseling must be provided for parents in pregnancies with major congenital abnormalities. K E Y W O R D Scongenital abnormality, pregnancy, termination of pregnancy

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Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China

Cited by 34 publications

References 28 publications

External birth defects in southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan province

External birth defects in southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan province

Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome

5‐year experience of a tertiary center in major congenital abnormalities in singleton pregnancies

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