Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe

Vigan, Catherine De; Baena, Neus; Cariati, E; Clementi, M.; Stoll, Claude

doi:10.1016/s0003-3995(01)01091-7

Cited by 50 publications

(45 citation statements)

References 19 publications

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“…The detection rate and the percentage of TOP are shown in table 3 (details on these parameters appeared in the specific articles on each category of congenital anomaly [12, 13, 14, 15, 16, 17, 18, 19, 20]. As information on associated anomalies in anencephaly was missing for many cases neural tube defects were not split into isolated and associated cases.…”

Section: Resultsmentioning

confidence: 99%

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Stoll

Tenconi

Clementi

2001

Public Health Genomics

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Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of congenital anomalies by fetal ultrasonographic examination across Europe. Methods: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to 3 fetal scans offered, including 2 for biometric purposes and 1 for search of congenital anomalies, the anomaly scan. Results: There were 8,126 cases with congenital anomalies with an overall prenatal detection rate of 44.3%. Termination of pregnancy was performed in 1,657 cases (21.8%). There was significant variation in the prenatal detection rate between regions with the lowest detection rate in registries of countries without routine fetal screening (Denmark and The Netherlands) and the highest detection rate in registries of countries with at least 1 anomaly scan (France, Germany, Italy, Spain, UK). However, there were large variations among the registries with a high detection rate. There were significant differences in the prenatal detection rate and proportion of induced abortions between isolated anomalies and associated anomalies (chromosomal aberrations, recognized syndromes, and multiple without chromosomal aberrations or recognized syndromes). Conclusions: Prenatal detection rate of congenital anomalies by fetal scan varies significantly between registries of European countries even with the same screening policy. Prenatal detection of congenital anomalies is significantly higher when associated malformations are present. The rate of induced abortions varies between registries of countries even with the same detection rate of congenital anomalies. The variation described may be due to cultural and policy differences.

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Section: Resultsmentioning

confidence: 99%

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Stoll

Tenconi

Clementi

2001

Public Health Genomics

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“…90,91 Severe abnormalities in ultrasound examinations before or after prenatal diagnosis increase termination rates. 92 There are major cultural differences in prenatal counselling. 93,94 For instance, in Israel, high rates of termination are reported, 95 but low rates are reported in Germany.…”

Section: Discussionmentioning

confidence: 99%

Triple X syndrome: a review of the literature

Otter¹,

2009

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The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits.Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

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“…The variability observed between regions may also reflect practices related to the organisation of follow up and TOP after detection of a CA at the second-trimester ultrasound, as well as detection rates at the second-trimester ultrasound or whether or not parents decide to terminate a pregnancy after detection. 5 Finally, underlying differences in the prevalence of CAs could also impact on these rates. The EUROCAT registers show a substantial variation in the prevalence of all CAs in participating regions from the MOSAIC countries.…”

Section: Discussionmentioning

confidence: 99%

“…We described differences in policies about screening and TOP for each region using existing EUROCAT publications 1,[5][6][7]12 and information provided by the MOSAIC regional teams. Information collected included whether TOP were carried out for fetal anomalies, the presence of universal ultrasound screening for structural anomalies, the timing of the structural anomaly scan, the limit for carrying out TOP and whether or not TOP were registered in similar ways as other births in national birth registers.…”

Section: Methodsmentioning

confidence: 99%

Termination of pregnancy among very preterm births and its impact on very preterm mortality: results from ten European population‐based cohorts in the MOSAIC study

Papiernik

Zeitlin

Delmas

et al. 2008

BJOG

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Objective To study the impact of terminations of pregnancy (TOP) on very preterm mortality in Europe.Design European prospective population-based cohort study.Setting Ten regions from nine European countries participating in the MOSAIC (Models of OrganiSing Access to Intensive Care for very preterm babies) study. These regions had different policies on screening for congenital anomalies (CAs) and on pregnancy termination.Population or sample Births 22-31 weeks gestational age.Methods The analysis compares the proportion of TOP among very preterm births and assesses differences in mortality between the regions.Main outcome measures Pregnancy outcomes (termination, antepartum death, intrapartum death and live birth) and reasons for termination, presence of CAs and causes of death for stillbirths and live births in 2003.Results Pregnancy terminations constituted between 1 and 21.5% of all very preterm births and between 4 and 53% of stillbirths. Most terminations were for CAs, although some were for obstetric indications (severe pre-eclampsia, growth restriction, premature rupture of membranes). TOP contributed substantially to overall fetal mortality rates in the two regions with late second-trimester screening. There was no clear association between policies governing screening and pregnancy termination and the proportion of CAs among stillbirths and live births, except in Poland, where neonatal deaths associated with CAs were more frequent, reflecting restrictive pregnancy termination policies.Conclusion Proportions of TOP among very preterm births varied widely between European regions. Information on terminations should be reported when very preterm live births and stillbirths are compared internationally since national policies related to screening for CAs and the legality and timing of medical terminations differ.

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Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe

Cited by 50 publications

References 19 publications

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Triple X syndrome: a review of the literature

Termination of pregnancy among very preterm births and its impact on very preterm mortality: results from ten European population‐based cohorts in the MOSAIC study

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