Prenatal diagnosis of the Meckel syndrome

Nevin, N. C.; Thompson, William C.; Davison, G.; Horner, W. T.

doi:10.1111/j.1399-0004.1979.tb02021.x

Cited by 28 publications

(2 citation statements)

References 4 publications

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“…Although thought to be relatively rare, Meckel syndrome is increasingly being recognised amongst fetuses terminated in the mid-second trimester following prenatal diagnosis by elevated amniotic fluid alpha fetoprotein levels. Since the first report (Seller 1975), there have been several others ( A d a et al 1977, Chemke et al 1977, Shapiro et al 1977, Seller 1978, Nevin et al 1979. Using my three cases, I calculated (Seller 1978) a possible gene frequency of between 0.0012 and 0.0044 and heterozygote carrier frequencies of between 1 in 400 and 1 in 125.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature, 81 cases of Meckel syndrome are described (Review of Opitz & Howe 1969, Review of Mecke & Passarge 1971, Fried et al 1971, Hsia et al 1971, Seller 1975, Koch & Schwanitz 1975, Shapiro et al 1977, Aula et al 1977, Chemke et al 1977, Seller 1978, Nevin et al 1979). In two cases, the kidneys are not mentioned, leaving 79 which can be fully evaluated.…”

Section: Discussionmentioning

confidence: 99%

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Phenotypic variation in Meckel syndrome

Seller

1981

Clinical Genetics

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Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal signs of Meckel syndrome ‐ encephalocoele and polycystic kidneys, lacking Polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57 % of cases have all the three major abnormalities, 16% have the two found in this family, and the remainder exhibit other variations. In 9 of 17 families where more than one sib is affected, manifestation between sibs is the same, but in the only other two families with as many as four affected sibs, there is variation in expression between sibs.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Phenotypic variation in Meckel syndrome

Seller

1981

Clinical Genetics

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Oligohydramnios hampering prenatal diagnosis of Meckel syndrome

Verjaal¹,

Meyer²,

Becker-Bloemkolk³

et al. 1980

Am. J. Med. Genet.

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We report our experience with the prenatal diagnosis of a case of the Meckel syndrome,The pregnancy was the 3rd of healthy non-consanguineous parents. The first child which was hampered by oligohydramnios.(d) had the Meckel syndrome. Although this infant had no open neural tube defect, prenatal amniotic fluid alpha fetoprotein (AFP) estimation was offered for future pregnancies. During the 2nd pregnancy amniocentesis was performed without difficulties 16 weeks after the last menstrual period. The AFP value was normal, and a healthy son was born at term. relatively small and corresponded to a gestational age of 15 weeks. Amniocentesis at that time resulted in several dry taps; three weeks later two punctures were unsuccessful. Ultrasound investigation at both times revealed an apparently normal fetus and placenta but proved to be difficult because of the small amount of amniotic fluid. Only at 20.5 weeks did the puncture produce 25 ml of sanguineous amniotic fluid in which HbF was demonstrated (< 5 ymoleslliter). This quantity of fetal blood contamination could not be held responsible for the elevated AFP value: 150 yg/ml (= 32 X SD). In a 20-hour amniotic fluid cell culture, rapidly adhering cells were seen. Chromosome analysis was normal: 46,XX (Q-banding). Because of the pathological AFP value, the parents asked for an interruption of the pregnancy. This was performed at 2 1.5 weeks; the size of the uterus was then estimated to be equivalent to a gestation of 17-1 8 weeks. Intra-amniotic instillation of hypertonic NaCl proved to be impossible because of oligohydramnios; hence the pregnancy was terminated by intra-muscular administration of 15 mg prostaglandin F, The stillborn female fetus During the 3rd pregnancy uterine size 16.5 weeks after the last menstrual period was

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The Meckel syndrome in Finland: Epidemiologic and genetic aspects

et al. 1984

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Estimates of the incidence of the Meckel syndrome (MS) from different parts of the world vary from 1:140,000 to 1:13,250 births. In this nationwide study performed in Finland, the incidence of 1:14,400 births was found by retrospective ascertainment during the period 1970-1979, while the incidence was 1:8,500 births when prospective monitoring was performed in 1980-1981. The most probable incidence in Finland is about 1:9,000 births. Autosomal recessive inheritance of MS is confirmed in this study. The ratio of affected sibs, corrected for truncate complete ascertainment, was 0.261. No consanguinity between parents was found, as marriages between close relatives are rare in Finland and the ancestors were not traced back far enough to find remote consanguinities.

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Prenatal diagnosis of the Meckel syndrome

Cited by 28 publications

References 4 publications

Phenotypic variation in Meckel syndrome

Phenotypic variation in Meckel syndrome

Oligohydramnios hampering prenatal diagnosis of Meckel syndrome

The Meckel syndrome in Finland: Epidemiologic and genetic aspects

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