Frequency of births with potentially avoidable serious chromosomal anomalies in EEC countries, 1979-1982.

Kate, L. P. Ten; Dolk, Helen; Cornel, Martina C.; Wals, Philippe De; Meerman, Gerard J. te; Lechat, M. F.; Weatherall, J. A. C.

doi:10.1136/jech.42.3.266

Cited by 5 publications

(14 citation statements)

References 11 publications

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“…Chromosomal deletions accounted for 5% of all chromosomal abnormalities identified by the HBDP. This rate is higher than that noted in other investigations (Friedrich & Nielsen 1973;Hamerton et al 1975;Ten Kate et al 1988;De Vigan et al 2001;Stoll et al 2001;Baena et al 2003). The differences could be due to differences in identification of chromosomal deletions or differences in the classification of certain chromosomal abnormalities as deletions.…”

Section: Discussioncontrasting

confidence: 62%

“…Chromosomal deletions, the loss of part of a chromosome, account for 1-4.5% of all detected chromosomal abnormalities and are one of the more common structural chromosomal abnormalities (Friedrich & Nielsen 1973;Hamerton et al 1975;Ten Kate et al 1988;De Vigan et al 2001;Stoll et al 2001;Baena et al 2003). Studies based on consecutive infants that underwent cytogenetic analysis have reported chromosomal deletion rates of 1-4 per 10 000 infants (Friedrich & Nielsen 1973;Hamerton et al 1975;Nielsen & Wohlert 1991).…”

Section: Introductionmentioning

confidence: 99%

“…Depending on the size of the population covered or the period of operation, birth defects registries may have information on a larger number of chromosomal deletions. Chromosomal deletion rates based on birth defects registries range from 0.3 to 1 per 10 000 births (Baird et al 1988;Ten Kate et al 1988;De Vigan et al 2001;Baena et al 2003). The rates from birth defects registries are lower than those based on consecutive infants undergoing cytogenetic analysis because all of the infants in the population covered by the birth defects registry typically do not undergo cytogenetic analysis.…”

Section: Introductionmentioning

confidence: 99%

“…According to reports, 30-50% of chromosomal deletions are prenatally diagnosed (De Vigan et al 2001;Stoll et al 2001;Forrester & Merz 2002;Stoll et al 2002;Baena et al 2003). As a consequence of prenatal diagnosis, a portion of fetuses with chromosomal deletions may be electively terminated (Ten Kate et al 1988;De Vigan et al 2001;Forrester & Merz 2002;Baena et al 2003).…”

Section: Introductionmentioning

confidence: 99%

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Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986–2003

Forrester¹,

Merz²

2007

Congenital Anomalies

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The aim of the investigation was to describe the chromosomal deletions identified by a birth defects registry with respect to the chromosomes involved, pregnancy outcome, method of diagnosis, inheritance, sex, and the diagnosis of major structural birth defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with chromosomal deletions delivered during 1986-2003. A total of 71 cases were identified through a statewide birth defects registry in Hawaii during 1986-2003. The chromosomes involved in the greatest proportion of deletions were chromosomes 22 (14.1%), 4 (11.3%), and 5 (11.3%). Live births accounted for 58 (81.7%) of the cases. Diagnosis was made by amniocentesis or chorionic villus sampling in 19 (26.8%) of the cases. Of the 18 cases with known inheritance, the deletion was inherited in 5 (27.8%) and de novo in 13 (72.2%). Males accounted for 28 (39.4%) and females for 43 (60.6%) of the cases. Major structural birth defects were identified in 51 (71.8%) of the cases. Chromosomal deletions do not appear to affect all chromosomes equally. Most of the chromosomal deletions that were detected occurred among live births and were de novo conditions. Infants and fetuses with chromosomal deletions are more likely to be females and to be associated with major structural birth defects.

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Section: Discussioncontrasting

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986–2003

Forrester¹,

Merz²

2007

Congenital Anomalies

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“…The reported prevalence of chromosomal deletions from congenital anomaly register data ranges from 0.3 to 2/10 000 births 18,[25][26][27][28] with newborn studies suggesting a similar rate of 0.5-1/10 000. 3,15 More recent studies include that of Forrester and Merz from Hawaii, 27 who looked at all deletions reported to a congenital anomaly register within an 8-year period.…”

Section: Discussionmentioning

confidence: 99%

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

et al. 2012

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The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for [2000][2001][2002][2003][2004][2005][2006] inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

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Patterns of Chromosomal Translocations Identified by a Birth Defects Registry, Hawaii, 1986–2000

Forrester¹,

Merz²

2004

Genetic Testing

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Using a birth defects registry, this investigation examined the distribution of translocations by type of translocation, chromosomes involved in the translocation, pregnancy outcome, method of diagnosis, inheritance, and diagnosis of major structural birth defects. A total of 121 cases were identified through a statewide population-based birth defects registry. The translocations were reciprocal in 89 (73.6%) cases, Robertsonian in 32 (26.4%) cases, balanced in 86 (71.1%) cases, and unbalanced in 35 (28.9%) cases. Live births accounted for 76 (88.4%) of balanced translocations and 22 (62.9%) of unbalanced translocations. Diagnosis was made by amniocentesis or chorionic villus sampling in 72 (83.7%) of balanced translocations and 11 (31.4%) of unbalanced translocations. Of cases of known inheritance, the translocation was of maternal origin in 38 (46.3%) cases, paternal origin in 25 (30.5%) cases, and de novo in 19 (23.2%) cases. Major structural birth defects were diagnosed in 17 (19.8%) of balanced translocations and 20 (57.1%) of unbalanced translocations. Translocations were more likely to be reciprocal, balanced, and of maternal origin. Infants and fetuses with unbalanced translocations were less likely to be live births and diagnosed by amniocentesis or chorionic villus sampling and more likely to be diagnosed with major structural birth defects.

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Frequency of births with potentially avoidable serious chromosomal anomalies in EEC countries, 1979-1982.

Cited by 5 publications

References 11 publications

Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986–2003

Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986–2003

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

Patterns of Chromosomal Translocations Identified by a Birth Defects Registry, Hawaii, 1986–2000

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