Prenatal diagnosis of congenital malformations in 500 pregnancies

Leschot, N. J.; Treffers, P.E.; Verjaal, M.; Weduwen, Johanna J. der; Gravenhorst, J. Bennebroek; Bennink, Herjan J.T. Coelingh

doi:10.1016/0028-2243(79)90040-6

Cited by 9 publications

(4 citation statements)

References 26 publications

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“…Karyotypes of chorionic villus cells were established from direct preparations according to the method described by Simoni et al (1983). The metaphases from amniotic fluid cells were obtained from at least 10 different cell clones from two or more parallel cultures (Leschot et al, 1979). Chromosome analyses from both chorionic villus cells and amniotic fluid cells were performed by means of Q-banding and at least 10 metaphases were studied.…”

Section: Methodsmentioning

confidence: 99%

Karyotypic differences between cells from placenta and other fetal tissues

et al. 1987

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Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These differences were found in both early and term pregnancies. Care should be taken in deducing the fetal karyotype from the chromosomal pattern of placental cells.

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Section: Methodsmentioning

confidence: 99%

Karyotypic differences between cells from placenta and other fetal tissues

et al. 1987

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“…In addition four needle injuries were present on the back, one of them penetrating into the right lung. in normal children [2]. The fact that the aborted fetus showed four such lesions must have been because of repeated punctures attempting to reach the amniotic cavity, especially at the time of the attempt to instill hypertonic saline.…”

Section: St Elisabeth Hospital [J G F M G) Amersfoort the Netmentioning

confidence: 97%

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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“…Amniocentesis (sampling of amniotic fluid cells) is normally performed transabdominally between the 14th and 16th week of gestation (calculated from the first day of the last menstruation e.g. Leschot et al, 1979).…”

Section: Manmentioning

confidence: 99%

Spontaneous meiotic non-disjunction in mammals. A study evaluating the various experimental approaches

Nijhoff

Boer

1981

Genetica

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This report reviews and evaluates the various methods and techniques used for measuring the incidence of spontaneous meiotic non-disjunction in mammals generally and particularly in mouse and man, It also gives the principal results obtained with these methods and techniques and consequently, in a sense, is also a review of the incidence of meiotic non-disjunction in these species. The incidence of non-disjunction is only given for normal meiosis. Studies involving chromosomal aberrations, e.g. of translocation carriers, have not been included.

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Prenatal diagnosis of congenital malformations in 500 pregnancies

Cited by 9 publications

References 26 publications

Karyotypic differences between cells from placenta and other fetal tissues

Karyotypic differences between cells from placenta and other fetal tissues

Oligohydramnios hampering prenatal diagnosis of Meckel syndrome

Spontaneous meiotic non-disjunction in mammals. A study evaluating the various experimental approaches

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