Parental Abnormalities Research Articles

Pengetahuan dan Pendapat Mahasiswa Poltekkes Surabaya Tentang Kelainan Genetik dan Skrining Pra-Nikah

To ensure couples planning to get married understand the genetic risks related with their future offspring, they need to acquire information about genetic disorders and pre-marital genetic counselling that can be followed by genetic screening. Genetic disorders can be inherited from normal parents who are carriers of abnormal genes, such as thalassemia and Haemophilia. Genetic disorder also encompass chromosomal abnormalities, either the number or structure chromosome. Unlike numerical chromosomal abnormalities in offspring, which have an increased risk associated with the mother’s age during pregnancy, structural abnormalities in parents can be passed to their offspring. This community service activity targets seventh-semester students at Poltekkes Kemenkes Surabaya, who are at an age ready for marriage. The implementation of this activity begins with a pre-test to assess the student ‘s knowledge before the education presentation, followed by presentation with interactive discussion and ended with post-test to determine whether the education was comprehensible to them. Poltekkes Kemenkes Surabaya students showed a better understanding of genetic disorder indicated with an average score increase of 8.2 points (9.2%) based on post test result . All students agree on the importance of pre-marital screening, with the majority willing to undergo premarital screening and still proceed with the marriage if their partner is a carrier of thalassemia.

Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China.

Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of chromosomal abnormalities in parents with RSAs. The aim of this study was to report the prevalence and type of structural chromosomal abnormalities in couples in cases of RSAs in Jilin Province, China. The prevalence of structural chromosomal abnormalities in these couples was 2.98%. The number of female carriers with balanced chromosomal aberrations significantly exceeded that of such male carriers, and the ratio of female/male carriers was approximately 2:1. The number of abortions in the case of female carriers was more than that for male carriers before the structural chromosome abnormality was diagnosed. This indicates that genetic counseling for couples with structural chromosomal abnormalities should consider the gender of the carriers.

Prévalence des anomalies cytogénétiques parentales au cours de l’avortement spontané récurrent : à propos de 168 couples

Summary Chromosomal abnormalities in parents are an obvious cause of recurrent spontaneous abortion (RSA). We present in this review the results of a cytogenetic study in a cohort of 168 couples gathered for at least two abortions. Prevalence of chromosomal abnormalities in couples with RSA was 8.92% (i.e 15/168), more common in men than women (OR = 2) with a predominance of reciprocal translocations. Our results highlight the importance of constitutional cytogenetic exploration of couples with a history of repeated spontaneous fetal loss. In light of these results, an adapted genetic counseling is offered, often preimplantation genetic diagnosis (PGD) supported by medically assisted procreation (MAP) or simply prenatal diagnosis (PND) in case of a pregnancy.

Retrospective Analysis of 661 Amniocentesis Cases at a Maternity Hospital in Bursa Turkey

-Objective The purpose of this study is to analyze the results of 661 amniocentesis cases performed for prenatal diagnosis at a maternity hospital. -Methods This is a retrospective study for a one year period (2008-2009) of case notes of 661 pregnant women who undergone amniocentesis for prenatal diagnosis and chromosomal abnormalities. Data expressed as actual counts and percentages -Results: The reasons for having amniocentesis were as follows: high risk in triple screening test (44.8%), advanced maternal age (44.5%), abnormal ultrasonographic examination (5.9%), history of previous births with down syndrome or abnormalities (3.3%), history of chromosomal abnormalities in parents (1.5%). The success rate of cytogenetic analysis was 100.0%. Chromosomal abnormalities were observed in 4.2% of the patients. -Conclusion: Among those with abnormal ultrasonographic examination chromosomal abnormalities were found to be higher than those with high risk triple test or advanced mother age. Structural chromosomal abnormalities were found lesser than the numerical abnormalities. High risk in triple screening, advanced maternal age and abnormal ultrasonographic results were three major indications for amniocentesis respectively. Chromosome abnormalities were detected in 4.2% of cases and most of these abnormalities were found in cases with abnormal ultrasonography.

813 Cytogenetic Results of 153 Patients with Mental Retardation in Middle Anatolia in Turkey

Mental retardation (MR), that is s a major social, educational, and health problem, occurs with the prevalence of 1-3% of general population. The etiologies of MR are complex the cause remains unknown in about 50% of cases and include teratogenic and environmental factors, perinatal asphyxia and genetic causes. Cytogenetic studies have been reported to determine the contribution of chromosomal abnormalities in parents with mental retardation from various other countries. As far as we know, no enaught studies have been done in the middle Anatolia in Turkey. The aim of the present study was to evaluate the frequency and nature of chromosomal aberrations in Turkish patients that contribute to mental retardation.

Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis

At least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34----7qter or 7q36----7qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and t(4;7)(q31;q36)] were shown in two mothers examined after the birth of their non-karyotyped infants with HPE and hydronephrosis. In both cases, del(7q) was the most probable imbalance. The available data confirm the association between HPE and del(7q). Predominance of cyclopia and cebocephaly, the severest forms of HPE, suggests that del(7q) may be an important factor in arresting prosencephalon development at the earliest stages.

BOOK REVIEWS

Books reviewed in this article: Psychiatric Illness in Adolescence—Its Psychopathology and Prognosis. M. T. Haslam. Mental Retardation and Developmental Disabilities. An Annual Review edited by Joseph Wortis. Abnormalities in Parents of Schizophrenics. S. Hirsch and J. Leff. And Say What He is: The Life of a Special Child. J. B. Murray and Emily Murray. Support, Innovation, and Autonomy. Tavistock Clinic Golden Jubilee Papers. Edited by Robert Gosling. The Gifted Child. C. Burt. Psychological Aspects of a First Pregnancy and Early Postnatal Adaptation. Edited by Pauline M. Shereshefsky and Leon J. Yarrow. The Birth of a First Child. Towards an Understanding of Femininity. Dana Breen. Early Child Care in Sweden. R. Berfenstam and I. William‐Olsson. Early Child Care in the U.S.A. H. B. Robinson, N. M. Robinson, M. Wolins, U. Bronfenbrenner and J. S. Richmond. Early Child Care in Switzerland. K. K. Buscher, P. Gross and V. Ritter. Aberrant Development in Infancy: Human and Animal Studies. Edited by Norman R. Ellis. Friendship and Peer Relations. Edited by Michael Lewis and Leonard Rosenblum. Your Child's First Five Years. M. Bax and J. Bernal. Help for the Epileptic Child. A Handbook for Parents, Nurses and Teachers. Jorge C. Lagos. Psychology and Education: A Science for Instruction. J. R. Bergan and J, A. Dunn. Paraprofessional Work with Troubled Children. James E. Gardner. The Cognitive Unconscious: A Piagetian Approach to Psychotherapy. Melvin Weiner. Minimal Brain Dysfunction. Mortimer D. Gross and William C. Wilson. Handbook of Mental Retardation Syndromes. (3rd Edn.). Charles H. Garter. The T.A.T., C.A.T. and S.A.T, in Clinical use. (3rd Edn.). Leopold Bellak. The Rorschach: A Comprehensive System. John E. Exner, Jr.

Book Review: Abnormalities in Parents of Schizophrenics

Book Review: Abnormalities in Parents of Schizophrenics

Etiology of Schizophrenia: Abnormalities in Parents of Schizophrenics . A Review of the Literature and an Investigation of Communication Defects and Deviances. Steven R. Hirsch and Julian P. Leff. Oxford University Press, New York, 1975. viii, 200 pp. $20.95. Institute of Psychiatry Maudsley Monographs, No. 22.

Etiology of Schizophrenia: <i>Abnormalities in Parents of Schizophrenics</i> . A Review of the Literature and an Investigation of Communication Defects and Deviances. Steven R. Hirsch and Julian P. Leff. Oxford University Press, New York, 1975. viii, 200 pp. $20.95. Institute of Psychiatry Maudsley Monographs, No. 22.

Etiology of Schizophrenia: Abnormalities in Parents of Schizophrenics . A Review of the Literature and an Investigation of Communication Defects and Deviances. Steven R. Hirsch and Julian P. Leff. Oxford University Press, New York, 1975. viii, 200 pp. $20.95. Institute of Psychiatry Maudsley Monographs, No. 22.

Etiology of Schizophrenia: <i>Abnormalities in Parents of Schizophrenics</i> . A Review of the Literature and an Investigation of Communication Defects and Deviances. Steven R. Hirsch and Julian P. Leff. Oxford University Press, New York, 1975. viii, 200 pp. $20.95. Institute of Psychiatry Maudsley Monographs, No. 22.

Some Christmas Books: Other reviews: Abnormalities in Parents of Schizophrenics

Some Christmas Books: Other reviews: Abnormalities in Parents of Schizophrenics

Vertebral and other abnormalities in parents and sibs of cases of spina bifida cystica and of anencephaly.

Vertebral and other abnormalities in parents and sibs of cases of spina bifida cystica and of anencephaly.