1,721,001 research outputs found
Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.
No full textThe prevalence of anal anomalies among
4,618,840 births recorded in 33 EUROCAT
registries between 1980 and 1994 was 4.05
per 10,000 births. Of the 1,846 recorded
cases, 672 (36.4%) were isolated anal anomalies
while 1,174 (63.6%) occurred together
with other anomalies. Only isolated anal
anomalies were analyzed in this study:
75.5% were atresias, 10.1% of which were
above and 89.9% were below the level of the
levator ani muscle. Fistula occurred in 53%
of supralevator and 37% of infralevator
atresia. Other anal anomalies were ectopic
anus (3.4%), congenital anal ®stula (14.7%),
and persistent cloaca (0.9%). There was a
predominance of males in anal atresia without
®stula (male to female (M:F) ratio was 6.7
for supralevator and 2.3 for infralevator
atresia), but no signi®cant sex difference in
atresias with ®stula. There was a predominance
of females in ectopic anus and congenital
anal ®stula (M:F0.11 and 0.36
respectively). High frequencies of fetal
deaths were recorded in supralevator atresia
without ®stula (8.3%) and in persistent
cloaca (11.1%). Mean gestational length and
mean birth weights were reduced for persistent
cloaca but were within normal limits
for other isolated anal anomalies. Odds
ratios (ORs) for mothers above 35 years
were increased for supralevator atresia
without ®stula, supralevator atresia with
®stula, and congenital anal ®stula. ORs for
mothers below 30 years were slightly
increased for supralevator atresia without
®stula and decreased for persistent cloaca.
There were marked differences in prevalence
and distribution of anal anomalies
among the EUROCAT registries. The results
indicated that there are epidemiological
differences among the various types of anal
anomalies which might re ̄ect different
embryological origins
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
No full textEUROCAT Working group collaborator: Carlos DiasThis study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in
the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases
delivered 2000–2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed.
Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy
for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000
births (95% CI 1.71–2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46–0.64), 1.04 (95% CI 0.92–1.17) and
0.30 (95% CI 0.24–0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in
TOPFA. There was wide country variation in prevalence (0.19–5.36 per 1000), proportion prenatally diagnosed (50–100%)
and proportion of prenatally diagnosed resulting in TOPFA (13–67%). Prevalence of prenatally diagnosed cases was higher in
countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or
up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of
cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence,
prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural
factors
Anorectal anomalies associated with or as part of other anomalies.
No full textAnorectal anomalies occurring with other
anomalies or as part of syndromes were
analyzed to determine how their epidemiological
characteristics differed from those
of isolated anal anomalies. Almost 15% of
cases were chromosomal, monogenic or teratogenic
syndromes, whereas the rest were
of unknown cause including sequences
(9.3%), VACTERL associations (15.4%) and
multiple congenital anomalies (MCA) (60.2%).
Almost half of babies with MCA had one or
two VACTERL anomalies with distribution
frequencies that did not differ significantly
from those in babies with the full VACTERL
association. There were considerable differences
in the frequency of the VACTERL
association among babies with different
types of anorectal anomaly. Babies with
anal anomalies occurring with sequences,
VACTERL or MCA showed the same sex
differences as babies with isolated anal
anomalies, namely male predominance in
anal atresia without fistula or cloaca, no sex
difference in anal atresia with fistula, and
female predominance in ectopic anus and
congenital anal fistula. These anomalies,
however, were associated with significantly
lower mean gestational lengths and birth
weights, and higher frequencies of fetal
death and pregnancy termination than
babies with isolated anal anomalies. Twins
were more frequent in sequences, VACTERL
and MCA than in isolated anomalies, monogenic
syndromes or chromosome anomalies.
Five cases were conjoined twins, representing
15% of all cases of twin pregnancies with
an anal anomaly. Indeterminate sex was
more frequent in babies with anal atresias
without fistula than in those with fistula.
Anal anomalies are defects of blastogenesis
attributable to disorders in expression of
pattern determining genes. The differential
sex involvement in different types of anal
anomaly may be manifestations of expression
of the HY/SRY genes during blastogenesis
or of X-linkag
Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.
No full textThe prevalence of anal anomalies among 4,618,840 births recorded in 33 EUROCAT registries between 1980 and 1994 was 4.05 per 10,000 births. Of the 1,846 recorded cases, 672 (36.4%) were isolated anal anomalies while 1,174 (63.6%) occurred together with other anomalies. Only isolated anal anomalies were analyzed in this study: 75.5% were atresias, 10.1% of which were above and 89.9% were below the level of the levator ani muscle. Fistula occurred in 53% of supralevator and 37% of infralevator atresia. Other anal anomalies were ectopic anus (3.4%), congenital anal fistula (14.7%), and persistent cloaca (0.9%). There was a predominance of males in anal atresia without fistula (male to female (M:F) ratio was 6.7 for supralevator and 2.3 for infralevator atresia), but no significant sex difference in atresias with fistula. There was a predominance of females in ectopic anus and congenital anal fistula (M:F = 0.11 and 0.36 respectively). High frequencies of fetal deaths were recorded in supralevator atresia without fistula (8.3%) and in persistent cloaca (11.1%). Mean gestational length and mean birth weights were reduced for persistent cloaca but were within normal limits for other isolated anal anomalies. Odds ratios (ORs) for mothers above 35 years were increased for supralevator atresia without fistula, supralevator atresia with fistula, and congenital anal fistula. ORs for mothers below 30 years were slightly increased for supralevator atresia without fistula and decreased for persistent cloaca. There were marked differences in prevalence and distribution of anal anomalies among the EUROCAT registries. The results indicated that there are epidemiological differences among the various types of anal anomalies which might reflect different embryological origins
Associated anomalies in multi‐malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries
No full textWe studied 5,449 cases of cleft lip (CL) with or without cleft palate (CL/P) identified between 1980 and 2000 from the EUROCAT network of 23 registers (nearly 6 million births) in 14 European countries. We investigated specific types of defects associated with clefts. Among CL/P cases (prevalence = 9.1 per 10,000), 1,996 (36.6%) affected only the lip (CL) and 3,453 (63.4%) involved CL and palate (CLP). A total of 3,860 CL/P cases (70.8%) occurred as isolated anomalies and 1,589 (29.2%) were associated with other defects such as multiple congenital anomalies of unknown origin (970), chromosomal (455) and recognized syndromes (164). Associated malformations were more frequent in infants who had CLP (34.0%) than in infants with CL only (20.8%). Among multi-malformed infants, 2 unrelated anomalies were found in 351 cases, 3 in 242 cases, and 4 or more in 377 cases. Among 5,449 CL/P cases, 4,719 were live births (LB) (86.6%), 203 stillbirths (SB) (3.7%), while 508 (9.3%) were terminations of pregnancy (ToP). CL/P occurred significantly more frequently in males (M/F = 1.70), especially among total isolated cases (M/F = 1.87) and CLP isolated cases (M/F = 1.92). The study confirmed that musculoskeletal, cardiovascular, and central nervous system defects are frequently associated with CL/P. An association with reduction anomalies of the brain was found. This association suggests that clinicians should seek to identify structural brain anomalies in these patients with CL/P as the potential functional consequences may be important for rehabilitation and clinical management
Risk of a Down syndrome live birth in women 45 years of age and older.
No full textOBJECTIVES: To determine the risk of a Down syndrome (DS) live birth for women 45 years of age and over. METHODS: A meta-analysis of data from five published articles, 13 EUROCAT congenital anomaly population registers and two unpublished sources. RESULTS: Information was available on the number of DS live births occurring amongst 13,745 live births to women 45 years of age and over. Information was also available on DS pregnancies diagnosed prenatally that were subsequently terminated. These pregnancies were adjusted for expected fetal loss to estimate the number of live births that would have occurred in the absence of prenatal diagnoses, when a total of 471 DS live births were estimated to have occurred. The risk of a DS birth did not increase for women 45 years of age and over. The average risk was 34 per 1000 births (95% CI: 31-37). CONCLUSION: The risk of a DS live birth for women 45 years of age and over is considerably lower than has often been previously assumed. The most likely explanation is that women of this age are more likely to miscarry DS pregnancies than younger mothers
Prevention of neural tube defects by periconceptional folic acid supplementation in Europe : special report
No full textTermination of pregnancy for fetal anomaly after 23 weeks of gestation: a European register-based study
No full textTo determine the prevalence of termination of pregnancy for fetal anomaly (TOPFA) after 23 weeks of gestation in European countries, and describe the spectrum of anomalies for which late TOPFA is recorded
Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome
Full text linkObjective: To 'map' the current (2004) state of prenatal screening in Europe. Design: (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. Setting: Europe. Population: Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. Methods: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database. Main outcome measures: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. Results: Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0-95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25-94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. Conclusions: There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD.</p
- …
