The cytogenetic examination as a tool for the diagnosis of chromosomal disorders / Examinación citogenética como herramienta para el diagnóstico de los desórdenes cromosómicos

Clinically significant chromosomal abnormalities occur in about 1 percent of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6 percent) the results were normal. In 22 (33.3 percent) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1 percent, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1 percent were found, syndromes as (Eduards syndrome, Patau syndrome, 3p- syndrome, 4p- syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7 percent of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.

Las anormalidades cromosómicas, clínicamente significativas, se presentan en aproximadamente 1 por ciento de los niños nacidos vivos. Este trabajo tiene el objetivo de ofrecer a los pacientes y /o a sus familiares el servicio de la Clínica Integrada de la Salud de Uniara (Araraquara y Región), el examen de cariotipo (estudio citogenético) para la confirmación o la exclusión de sospecha de anomalías cromosomales diagnosticadas, así como otorgar información (consejo genético) para la prevención de las posibles anomalías y /o la repetición de éstas. En un año y cuatro meses fueron realizados 66 estudios de citogenética en la Clínica Integrada de Uniara, dirigida por el Laboratorio de Citogenética Humana de la misma institución. En 44 pacientes (66,6 por ciento) los resultados fueron normales. En 22 (33,3 por ciento) de los exámenes, se encontraron alteraciones, compatibles con alteraciones cromosómicas. La primera causa de anomalías cromosómica fue el síndrome de Down, totalizando 15 exámenes (68,1 por ciento), la segunda causa fue el síndrome de Turner, con dos cariotipos (9,1 por ciento) en la forma más importante 45, X. Por otra parte, se encontró que los síndromes de Eduards, de Patau, 3p-síndrome de Down, síndrome 4p-6p, diagnosticados en nuestro laboratorio, presentaban baja frecuencia de aparición, representando el 22,7 por ciento de las anomalías estudiadas. Este trabajo permitió realizar un diagnóstico preciso de las anomalías cromosomales, principalmente a través de una técnica de bajo costo, fácil ejecución y buena confiabilidad, técnicas que están disponibles para el examen citogenético para la comunidad y así contribuir de manera significativa en la calidad de vida de los pacientes.

[Effect of pre-marriage counseling on the sexual health]

Regarding the increase of sexual transmitted disease, high risk behaviour and unwanted pregnancy in one hand, and myth, incorrect believes and low knowledge about sexuality in the other hand, sexual health education is one the basic compartment of health promotion. The pre-marriage counseling is one of the best opportunities to reach our aim. This was a semi-practical study. We had considered 32 case couples and 32 control couples randomly. The couples had been chosen from those, which have been contacted to the clinics of Tehran University of medical sciences. All cases had contributed to three lectures given by the researcher. The lectures were mainly based on the different aspects of sexual health, like: family plain, safe sex, different aspects of sexuality and physiologic different in men's and women's. On the other hand the control group had taken the normal lectures, which presents in the clinics which were based on the family planning and pre-marriage experiments. Both groups [cases and controls] had been asked to fill a form six months after counseling. In this form, we had included 10 questions of sexual health and 10 demographic questions. We had finally analyzed our data by SPSS software where we had used descriptive and discriminated statistics. We have obtained a considerable difference in sexual health between the two groups by Man-Whitney test [p=0.000]. The majority of case group [96.9%] showed a good sexual health whereas the most procent of control group [59.4%] had a moderate sexual health. To improve the quality of pre-marriage counseling, the content of usual lectures should be modified in addition to consider more time for these lectures. The results revealed that the pre-marriage counseling enhances the sexual health that lead to marital satisfaction

Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.

The experiences in genetic counseling and prenatal diagnosis at a tertiary genetic center in India are described. Of 3500 subjects provided genetic counseling 28.7% were for prenatal diagnosis, 13.7% for mental retardation +/- malformations, 11.5% for thalassemia, hemophilia and leukemia, 8.5% for neural tube defects and other malformations, and 8% for muscle dystrophy and spinal muscle atrophy. Chromosomal studies in blood (n = 5459) were for recurrent abortions (57.8%), delayed milestones (14.7%), malformations (11%), and infertility and amenorrhea (10.2%). Indications for amniotic fluid studies (n = 835) were advanced maternal age (35.7%), high risk result on triple test (21.3%), previous child with trisomy 21 (21.3%) and abnormalities seen on ultrasound (11.1%). Molecular studies were mostly for thalassemia (843, 24.3%), Duchenne muscular dystrophy (443, 12.5%), fragile X syndrome (367, 10.3%), spinal muscular atrophy (315, 8.9%), thrombophilia profile (233, 6.6%), triplet repeat disorders-spinocerebellar ataxias, Huntington disease and Friedreich ataxia-162 (4.6%), cystic fibrosis 140 (3.9%) and mitochondrial disorders 101 (2.9%). Other disorders for which molecular diagnosis was done were intrauterine infections by PCR on the amniotic fluid, Prader Willi/Angelman syndromes, hemophilia, achondroplasia, congenital adrenal hyperplasia, and Apert syndrome etc. In biochemical studies triple marker tests were the most common (3239), followed by aminoacid chromatography (774). Among neurolipidosis metachromatic leukodystrophy was the commonest, followed by Krabbe's disease, Tay Sach disease and Gaucher disease. Of the mucopolysacharidoses Hurler syndrome was the commonest, followed by Hunter syndrome. These data are compared with previous studies and a change towards increased prenatal diagnostic tests is observed. The commonest indication for amniocentesis has changed to advanced maternal age. CONCLUSION: Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.

Quatro anos do ambulatório de aconselhamento genético na Faculdade de Medicina do Triângulo Mineiro: estudo retrospectivo / Four years of genetic counselling clinic at Triangulo Mineiro Medical School: a retrospective study

Foram revistos, retrospectivamente, os prontuários médicos dos pacientes atendidos entre 1989 e 1993 no Ambulatório de Aconselhamento Genético da FMTM. A casuística compöe-se de 186 indivíduos, os quais foram separados em seis grupos: Aconselhamento Genético - AG (15,2 por cento), Distúrbios da Determinaçäo e da Diferenciaçäo Sexual - DDDS (23,2 por cento), Baixa Estatura - BE (16,7 por cento), Aberraçöes dos Cromossomos Autossomos - AA (7,0 por cento), Sindromes Gênica - SG (8,6 por cento) e Miscelânea - M (29,7 por cento). Os pacientes vieram referidos pela Endocrinologia (41,4 por cento), Gineco-Obstetricia (15,1 por cento), Neurologia (12,9 por cento), Pediatria (8,6 por cento) e Outros (22,0 por cento), sendo que a maioria dos encaminhamentos procederam da própria cidade (79,7 por cento). A Endocrinologia correspondeu a 67,4 por cento dos atendimentos por DDDS, e 93,5 por cento por BE, a Pediatria predominou no grupo AA (46,2 por cento) e a Gineco-Obstetricia no Grupo AG (75,0 por cento).