Prenatal diagnosis of trisomy 9 mosaicism

Purvis‐Smith, Stuart; Saville, Toni; Osborn, R A

doi:10.1016/s0031-3025(16)38254-x

Cited by 8 publications

(5 citation statements)

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“…Mosaic trisomy 9 was first described in 1973(Haslam et al, 1973. Prenatal diagnosis of this condition has been previously reported by others (Purvis-Smith et al, 1983;Pfeiffer et al, 1984;Hsu and Perlis, 1984;Zadeh et al, 1987;Schwartz et al, 1989;Sherer et al, 1992).…”

Section: Introductionmentioning

confidence: 84%

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Prenatal diagnosis of trisomy 9 mosaicism: Two new cases

et al. 1993

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We present two prenatal cases of trisomy 9 mosaicism, both of which presented intrauterine growth retardation (IUGR) and other abnormal ultrasound findings. In case A, mosaicism was found in amniotic fluid cell cultures, of which 65 per cent were trisomic cells, on average. In case B, trisomic cells were present in amniotic fluid cell cultures (12 per cent) but none were found in fetal cord blood. After autopsy, cytogenetic findings were confirmed in different tissue cultures. It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9. Suspected trisomy 9 mosaicism always requires further investigation and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisomy 9.

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Section: Introductionmentioning

confidence: 84%

“…Prenatal diagnosis of trisomy 9 has been reported previously (Purvis-Smith et al, 1983;Hsu and Perlis, 1984;Pfeiffer et al, 1984;Zadeh et al, 1987;Schwartz et al, 1989;Sherer et al, 1992).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of trisomy 9 mosaicism: Two new cases

et al. 1993

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“…Of the 234 mosaic cases reported in these collaborative studies, six (2.6 per cent) demonstrated trisomy 9 mosaicism (Hsu and Perlis, 1984). Additionally, there have been a few other cases of either complete or mosaic trisomy 9 detected prenatally (Table 3) (Francke et al, 1975;Frohlich, 1982;Greenberg et al, 1982;Purvis-Smith et al, 1983;Zadeh et al, 1987).…”

Section: Discussionmentioning

confidence: 99%

Prenatal detection of trisomy 9 mosaicism

et al. 1989

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Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, +9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.

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“…Trisomy 9 mosaicism was first reported by Haslam et al (1973) and additional cases have been described postnatally (Bowen, 1974;Akatsuka et al, 1979;Carpenter and Tompkins, 1982). Prenatal diagnosis of trisorny 9 mosaicism has been reported (Purvis-Smith et al, 1983;Pfeiffer et al, 1984;Hsu and Perlis, 1984). Other cases have had both prenatal and postnatal chromosome analysis (Zadeh et a[., 1987; Schwartz et al, 1989).…”

Section: Discussionmentioning

confidence: 99%

“…Further postnatal diagnosis and confirmation of this condition have been reported by others (Bowen, 1974;Akatsuka et al, 1979;Carpenter and Tompkins, 1982;Wilroy et al, 1985). Prenatal diagnosis of this disorder has been described (Purvis-Smith et al, 1983;Pfeiffer et al, 1984;Hsu and Perlis, 1984;Zadeh et al, 1987;Schwartz et al, 1989). We present a case in which prenatal diagnosis demonstrated trisomy 9 and a balanced translocation, t( 1; 20)(q42;p11.2) pat, in 100 per cent of the amniocytes.…”

Section: Introductionmentioning

confidence: 87%

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

et al. 1992

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We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.

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Prenatal diagnosis of trisomy 9 mosaicism

Cited by 8 publications

References 0 publications

Prenatal diagnosis of trisomy 9 mosaicism: Two new cases

Prenatal diagnosis of trisomy 9 mosaicism: Two new cases

Prenatal detection of trisomy 9 mosaicism

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

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