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Chromosome Anomalies (chromosome + anomaly)
Selected AbstractsTrends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère)PRENATAL DIAGNOSIS, Issue 11 2003P. Guillem Abstract Objectives This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. Design of the Study This is an epidemiological study. The geographic area covered is the French county of ,Isère', which represents a mean of 14 000 births per year over the study period. Materials and Methods Data on ETOPs were collected actively from medical records by a register of childhood deficiencies and adverse perinatal events in this county. Between 1989 and 2000, 996 ETOPs were notified. Results Four main grounds for ETOPs were identified: (1) morphological anomalies with normal karyotype (39%), (2) chromosomal anomalies (35%), (3) other fetal grounds (16%), and (4) maternal indications (10%). Prevalence rates for the first two grounds increased significantly over the study period respectively from 2.0 to 2.9 and from 1.4 to 2.7 per 1000. Among the ETOPs carried out because of fetal indications, the percentage of late ETOPs (from 24 weeks of gestation) was 34.6%, and remained stable over the studied period. In some cases, a medical consensus was not reached with respect to indications for termination (sex chromosome anomalies, limb defects). We estimated the percentage of these cases as being 2.7% of the figure for fetal indications, without any variation in prevalence over the whole period (p = 0.59). The increasing number of ETOPs that occurred in the chromosomal aberrations group during the study period is thought to be due to an increase in diagnostic sensitivity. The increase that occurred in the morphological anomalies group is thought to be due both to an increase in sensitivity and to a widening of the field with respect to indications, some of which have an uncertain prognosis (e.g. agenesis of the corpus callosum). Conclusion This study provides useful data for monitoring medical practice consistency within the field of prenatal diagnosis, and for the drive to keep medical practice within ethically acceptable limits. Copyright © 2003 John Wiley & Sons, Ltd. [source] Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot studyPRENATAL DIAGNOSIS, Issue 7 2003Sue Hall Abstract Objectives To examine the association between the information health professionals report providing parents about sex chromosome anomalies (SCAs) and the outcomes of affected pregnancies. Methods Telephone interviews were conducted with health professionals who disclosed the prenatal diagnosis of an SCA to parents. The statements they reported providing to parents about the condition were coded as positive, neutral or negative. Outcomes of the pregnancies were obtained from medical records. Results Six of the 23 pregnancies were terminated. Health professionals reported giving parents of these six cases a greater amount of negative information about an SCA than did the health professionals reporting on the information given to the parents who continued with their pregnancies. Health professionals reported giving a similar amount of positive and neutral information to both groups of parents. Conclusion The results of this pilot study suggest that there is a positive association between the amount of negative information parents are given initially about a sex chromosome anomaly and the decision to terminate the affected pregnancy. This study is limited by its small sample size and reliance on health professionals' self-reports of information provided to parents. Larger, prospective studies in which consultations are tape-recorded and linked to parents' subsequent decision making and adjustment are needed. Copyright © 2003 John Wiley & Sons, Ltd. [source] Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in EuropePRENATAL DIAGNOSIS, Issue 4 2001C. Stoll Abstract Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996,1998, 709,030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ,isolated' when only a cardiac malformation was present and ,associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20,24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd. [source] Holoprosencephaly due to numeric chromosome abnormalities,,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010Benjamin D. Solomon§ Abstract Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE. Published 2010 Wiley-Liss, Inc. [source] Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot studyPRENATAL DIAGNOSIS, Issue 7 2003Sue Hall Abstract Objectives To examine the association between the information health professionals report providing parents about sex chromosome anomalies (SCAs) and the outcomes of affected pregnancies. Methods Telephone interviews were conducted with health professionals who disclosed the prenatal diagnosis of an SCA to parents. The statements they reported providing to parents about the condition were coded as positive, neutral or negative. Outcomes of the pregnancies were obtained from medical records. Results Six of the 23 pregnancies were terminated. Health professionals reported giving parents of these six cases a greater amount of negative information about an SCA than did the health professionals reporting on the information given to the parents who continued with their pregnancies. Health professionals reported giving a similar amount of positive and neutral information to both groups of parents. Conclusion The results of this pilot study suggest that there is a positive association between the amount of negative information parents are given initially about a sex chromosome anomaly and the decision to terminate the affected pregnancy. This study is limited by its small sample size and reliance on health professionals' self-reports of information provided to parents. Larger, prospective studies in which consultations are tape-recorded and linked to parents' subsequent decision making and adjustment are needed. Copyright © 2003 John Wiley & Sons, Ltd. [source] | ||||||||||