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Karyotypic Abnormalities (karyotypic + abnormality)

Distribution by Scientific Domains

Medical Sciences	80%

Selected Abstracts

Aberrant increase in the immature platelet fraction in patients with myelodysplastic syndrome: a marker of karyotypic abnormalities associated with poor prognosis

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2009
Naomi Sugimori
Abstract Objectives:, Some patients with myelodysplastic syndrome (MDS) show a marked increase in the percentage of immature platelet fraction (IPF%) despite the absence of severe thrombocytopenia. To determine the significance of such an unbalanced increase in the IPF%, we investigated the IPF% and other laboratory findings of 51 patients recently diagnosed with MDS. Method:, Subjects consisted of 80 healthy males, 90 healthy females, and 51 patients with MDS and 20 patients with idiopathic thrombocytopenic purpura (ITP). The IPF and IPF% were determined using a Sysmex XE-2100 system loaded with IPF Master software (XE IPF Master, Sysmex). Platelet counts were measured simultaneously. Results:, IPF% and platelet counts of these patients ranged from 1.1% to 25.1% (median, 5.3%) and from 6 to 260 × 109/L (median, 71 × 109/L), respectively. Twelve patients showed platelet counts more than 50 × 109/L with 10% or more IPF%. All of the 12 patients had chromosome abnormalities including monosomy 7 and complex abnormalities involving 7 or 5q. In the other 39 patients who did not show the aberrant IPF% increase, chromosomal abnormalities were seen only in seven patients and none of them had chromosome 7 abnormalities. The IPF% of two patients increased to more than 10% in association with the appearance of monosomy 7. Conclusions:, These findings suggest that a high IPF% in MDS patient may be a marker for karyotypic abnormalities with a poor prognosis, including chromosome 7 abnormalities. [source]

The outcomes of pregnancies following a prenatal diagnosis of fetal exomphalos in Western Australia

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 4 2009
Nick CALVERT
Aims: To review the perinatal outcomes for prenatally diagnosed exomphalos from a single geographical region. Methods: Retrospective review of cases of prenatally identified exomphalos in the state of Western Australia in the ten-year period 1998,2007 using the medical databases of the sole tertiary obstetric and paediatric hospitals. Results: Ninety-four cases of prenatally identified exomphalos comprise this consecutive case series. Culture-proven karyotypic abnormalities occurred in 40 (42.6%) fetuses. No karyotypically abnormal fetus survived the neonatal period, with 33 of 40 (82.5%) pregnancies interrupted, five of 40 (12.5%) resulting in fetal demise and two (5%) neonatal deaths. For the 49 (52.1%) fetuses with a normal karyotype, 26 (53.1%) had associated abnormalities with termination occurring in 22 (84.6%). Prenatally isolated exomphalos was present in 23 cases (24.5%), with live birth in 15 cases (30.6% of euploid fetuses). Fourteen (93.3%) of the liveborn prenatally isolated exomphalos cases survived with no postoperative deaths, although four (28.5%) had significant abnormalities detected postdelivery and most have experienced childhood morbidity. Conclusions: In the the majority of cases of prenatally detected exomphalos the pregnancy was interrupted secondary to chromosomal or structural abnormalities. In only 10.6% of prenatally recognised fetuses with exomphalos was the disorder truly isolated with neonatal survival occurring. [source]

Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography

PRENATAL DIAGNOSIS, Issue 2 2005
Kate Langford
Abstract One hundred and twenty-five fetuses were identified as having an AVSD with normal venous connections, normal arterial connections and normal cardiac situs on fetal echocardiography. Fetal karyotype was known in 111 of these cases. The relative risk of fetal trisomy 21 at mid-trimester was 107 (95% CI 87,127) times the expected number of cases compared with risk from maternal age alone, and that for trisomy 21,18 or 13 was 95 (95% CI 79,109). This data may be useful in counselling pregnant women about risk of fetal karyotypic abnormality after a diagnosis of fetal AVSD. Copyright © 2005 John Wiley & Sons, Ltd. [source]

Pregnancy outcome in the setting of extremely low first trimester PAPP-A levels

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009
Fergus SCOTT
Background: Serum pregnancy-associated plasma protein-A (PAPP-A) is part of first trimester Down syndrome screening. Low levels have been associated with adverse outcome as well as chromosomal abnormality. Aims: To assess the incidence of adverse outcome when PAPP-A levels are at or below 0.2 multiples of the median (MoM). Methods: Data on consecutive patients attending a first trimester screening program were collected. Those with PAPP-A levels , 0.2 MoM were divided into three groups: , 0.1 MoM; 0.11,0.15 MoM; and 0.16,0.2 MoM. Results: Screening 44 535 patients resulted in 197 with PAPP-A levels , 0.2 MoM. The incidence of karyotypic abnormality increased with decreasing PAPP-A levels. In the absence of chromosome abnormality, pregnancy outcomes were defined as ,normal' in at least 30% and ,good' in at least 60%, with both percentages increasing as the PAPP-A level rose. The PAPP-A levels were significantly lower in the group with a poor outcome. The incidence of prematurity was similar in the three groups, but higher than the statewide average, while the incidence of extreme prematurity appeared to be related to reducing PAPP-A levels. The incidence of growth restriction in the three groups was similar, but was still double the incidence in the normal population. Conclusion: If the PAPP-A level is , 0.2 MoM and the karyotype is normal, there is an increased risk of adverse outcome. Even with PAPP-A below 0.1 MoM, a good outcome can be expected in 60% of cases. Careful morphological assessment is suggested and later monitoring of fetal growth and well-being. [source]