Relinquishment of infants with Down syndrome in Israel: trends by time.

To assess factors affecting parental relinquishment of infants with Down syndrome, we conducted a nationwide cohort study of infants with Down syndrome who were born in Israel during 1979-1983 and 1987-1991. Overall relinquishment rate was 25%. Major factors affecting relinquishment were mother's age, birth order, infant's health status, and study periods.

Incidence of leukemia and other cancers in Down syndrome subjects in Israel.

Epidemiologic data have confirmed the high susceptibility of persons with Down syndrome (DS) to leukemia. The question of proneness to other kinds of cancer is still open. In this study we reassessed the incidence rates of leukemia and other malignancies in Israeli DS subjects, based on the total population.

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.

An increased frequency of carriers of 1:140, as defined by reduced hexosaminidase A (HexA) activity, was observed among Iraqi Jews participating in the Tay-Sachs disease (TSD) carrier detection program. Prior to this finding, TSD among Jews had been restricted to those of Eastern European (Ashkenazi) and Moroccan descent with carrier frequencies of 1:29 and 1:110 for Jews of Ashkenazi and Moroccan extraction, respectively. A general, pan-ethnic frequency of approximately 1:280 has been observed among other Jewish Israeli populations.

Risk factors for infant mortality in Down's syndrome: a nationwide study.

The aim of this study was to assess risk factors for the excessive infant mortality rates (IMR) of infants with Down's syndrome (DS). The study population included all 847 Jewish DS births in Israel during 1979-83 and 1987-91. Cases were identified through the National DS Registry.

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defined and new obilgate TSD carriers, we found four additional mutations.

Amniocentesis rate and the detection of Down syndrome and other chromosomal anomalies in Israel.

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P < 0.03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally.

Prenatal testing for Down syndrome in the Jewish and non-Jewish populations in Israel.

The present work evaluated the efficacy of a prenatal diagnosis program in which amniocentesis and chorionic villus sampling were offered free of charge to all pregnant women in Israel aged > or = 37 years. The number of Down syndrome (DS) live births that occurred during the period of the program (1978-92) was correlated to the prevalence of old maternal age (> 35 years) and the utilization of prenatal test in the Jewish and non-Jewish populations in 1990 and 1992. It was noted that in the Jewish population, there was a slight increase in the DS live birth rate, from 1.

Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population.

The recently acquired ability to identify 97% of CF carriers in an Israeli Ashkenazi population, prompts an evaluation of a nationwide screening programme. In 1993, the programme would first screen and counsel 9,261 parents, then 396 spouses of carrier parents and finally screen 16.5 fetuses where both parents are carriers.

Screening for neonatal hypothyroidism in Israel during a 4-year period.

The neonatal hypothyroidism (NH) screening program in Israel was initiated in May 1978, and by the end of April 1984, 538,565 infants had been screened. One hundred sixty-six newborns were found to have NH; 7 of these exhibited only transient hypothyroidism. During the screening period the average age for initiation of treatment decreased from 6 to 4.

Cyclic leukocytosis and long survival in chronic myeloid leukemia.

A patient with an unusually prolonged course of Ph' positive chronic myeloid leukemia is presented. His disease was marked by cyclic leukocytosis, various chromosomal aberrations and secondary thrombasthenia. In vitro culture studies and granulocyte-macrophage colony stimulating factor (GM-CSF) production were consistent with responsiveness of the leukemic clone to GM-CSF.

Cytogenetic findings in polycythemia vera: a review and reevaluation.

Chromosomal aberrations reported in the disease course of patients with polycythemia vera are reviewed. Methodological pitfalls related to data collection, presentation and interpretation are pointed out. On the basis of the available information, it seems reasonable to conclude that chromosomal derangements are not specific to polycythemia vera and that clone formation is infrequent.

Fluidity difference of membrane lipids in human normal and leukemic lymphocytes as controlled by serum components.

Lymphocytes isolated from the peripheral blood of patients with chronic lymphatic leukemia and from normal healthy donors were analyzed for fluidity of membrane lipids. The degree of lipid fluidity in normal and leukemic lymphocytes was quantitatively monitored by a method based on fluorescence polarization analysis of a fluorescent probe that is embedded in lipid regions of cellular membrances. The present studies were performed on lymphocytes isolated from 26 blood samples from 16 patients with chronic lymphatic leukemia and 36 blood samples from 36 normal health donors.