Prenatal diagnosis of Meckel syndrome

Leschot, N. J.; Nef, J. J. de; Becker-Bloemkolk, M. J.; Verjaal, M.; Wiesenhaan, P. F.

doi:10.1007/bf00278842

Cited by 13 publications

(4 citation statements)

References 5 publications

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“…This attempt to ‘map’ the state of prenatal diagnosis in 18 European countries in 2004 has confirmed wide variation in the availability and type of noninvasive screening tests for Down’s syndrome, in the number of ultrasound scans offered and in the legal gestational limits regarding TOPFA. This broad view of prenatal diagnosis updates a previous report describing prenatal diagnosis in different countries in Europe between 1993 and 1995 9 …”

Section: Discussionmentioning

confidence: 99%

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

Boyd

DeVigan

Khoshnood

et al. 2008

BJOG

282

187

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Objective 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.

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Section: Discussionmentioning

confidence: 99%

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

Boyd

DeVigan

Khoshnood

et al. 2008

BJOG

282

187

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“…The first prenatal diagnosis of the Meckel syndrome was reported by Seller (178) and at least ten cases have been described since then (8,32,69,121,125,130,149,153,179,180). The fetal age is important in these examinations, and 16 weeks is probably optimal (69).…”

mentioning

confidence: 99%

Genetics of microphthalmos

Warburg

1981

Int Ophthalmol

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This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

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“…ab. ; fetus with Meckel syndrome (details in Leschot, de Nef, Becker-Bloemkolk, Verjaal and Wiesenhaan, 1978). i* 45J(Xf(DqGq).…”

Section: Indicationsmentioning

confidence: 99%