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Invasive Prenatal Diagnosis (invasive + prenatal_diagnosis)

Distribution by Scientific Domains

Medical Sciences	60%

Selected Abstracts

Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests

PRENATAL DIAGNOSIS, Issue 11 2007
Michal Berkenstadt
Abstract Objectives To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus. Methods Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and June 2004. PM was defined 55,199 repeats, FM above 200. Results Out of 40 079 women screened, 5 FM and 255 PM carriers were detected. There was no significant difference in carrier frequency between those with versus those without family history of mental retardation or developmental abnormalities: 1 in 128 (28/3596) versus 1 in 157 (232/36 483). However, the median of repeats differed significantly: 58 and 66 repeats, respectively, (P < 0.0001). Invasive prenatal diagnosis was carried out in 370 pregnancies (7 FM and 363 PM). Thirty FM fetuses were detected. There was a lower expansion rate in cases without a family history: 10% (17/169 PMs) compared to 50% (11/22 PMs) in those with a history, but this could be accounted for by the difference in allele size. Conclusion There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age. Copyright © 2007 John Wiley & Sons, Ltd. [source]

Doctors' attitudes towards invasive prenatal diagnosis

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 1 2009
Somsri Pitukkijronnakorn
Abstract Aim:, To assess the influence of a doctor's gender, age group, religion and invasive prenatal diagnosis (PND) knowledge on their attitude towards invasive PND. Methods:, All non,obstetric and gynecologic doctors were surveyed using a structured questionnaire. The questionnaire enquired about demographic information, and doctors' knowledge, attitude and experience regarding invasive PND for themselves, and their spouses, relatives, friends, colleagues and patients. Results:, Responses from the 289 respondents revealed that two-thirds of respondents knew only a little about invasive PND. Most males and females were in the 31,39 and ,30-year-old groups, respectively. There were no statistically significant differences in gender, age group, religion and invasive PND knowledge when recommending of invasive PND. If fetal anomalies were detected, most of the females in the Buddhist group (P < 0.05), males with quite a lot of PND knowledge group (p < 0.05) and younger doctors group (P < 0.05) would their own terminate pregnancies, or those of wives and relatives. Conclusion:, Attitudes towards invasive PND and pregnancy termination was influenced by gender, age group, religion and PND knowledge. Females and younger doctors from both gender groups tended to recommend the termination of pregnancy if they found fetal anomalies. [source]

Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy

PRENATAL DIAGNOSIS, Issue 10 2006
E. Gadow
Abstract Objective To analyze variables affecting couples' decision making about prenatal cytogenetic diagnosis in patients with no access to legal termination of pregnancy (TOP). Methods Patients undergoing invasive prenatal diagnosis were anonymously surveyed after counseling and before the procedure. The questionnaire enquired about sociodemographic features, medical history, knowledge of and attitudes toward genetic testing and TOP. Results Two genetic units distributed 372 questionnaires. Mean maternal age was 36 ± 4 years. Access to prenatal genetic counseling was mainly patient's own initiative, or ,self-referral'. Most self-referred patients (87%) considered that ,receiving accurate information' was the main issue. Eighty-one per cent of all couples knew that TOP because of fetal anomalies was not legal. In case of a serious anomaly, 68.2% of patients would contemplate TOP, in spite of the risk of being exposed to an unsafe abortion. Conclusions In many countries, prenatal genetic testing is offered, but TOP is not available. In the present study, although most of the couples who decided to undergo prenatal genetic testing were aware of this, they still chose to perform prenatal diagnosis. The main reason given was to obtain reliable information about fetal condition. Finally, if a fetal chromosomal abnormality were detected, most of them would consider TOP. Copyright © 2006 John Wiley & Sons, Ltd. [source]

The future of prenatal diagnosis: rapid testing or full karyotype?

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2005
An audit of chromosome abnormalities, pregnancy outcomes for women referred for Down's Syndrome testing
Objective To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. Design Retrospective collection and review of data. Setting The four London Regional Genetics Centres. Population Pregnant women (32,674) in the London area having invasive prenatal diagnosis during a six-year three-month period. Methods Abnormal karyotypes and total number of samples referred for raised maternal age, raised risk of Down's Syndrome following serum screening or maternal anxiety were collected. Abnormal karyotypes detected by molecular trisomy detection were removed, leaving cases with residual abnormal karyotypes. These were assessed for their clinical significance. Pregnancy outcomes were ascertained by reviewing patient notes or by contacting obstetricians or general practioners. Main outcome measures Proportion of prenatal samples with abnormal karyotypes that would not have been detected by rapid trisomy testing, and the outcome of those pregnancies with abnormal karyotypes. Results Results from 32,674 samples were identified, of which 24,891 (76.2%) were from women referred primarily for Down's Syndrome testing. There were 118/24,891 (0.47%) abnormal sex chromosome karyotypes. Of the samples with autosomal abnormalities that would not be detected by rapid trisomy testing, 153/24,891 (0.61%) were in pregnancies referred primarily for Down's Syndrome testing. Of these, 98 (0.39%) had a good prognosis (46/98 liveborn, 3/98 terminations, 1/98 intrauterine death, 1/98 miscarriage, 47/98 not ascertained); 37 (0.15%) had an uncertain prognosis (20/37 liveborn, 5/37 terminations; 12/37 not ascertained) and 18 (0.07%) had a poor prognosis (1/18 liveborn, 2/18 miscarriage, 11/18 terminations, 4/18 not ascertained). Conclusions For pregnant women with a raised risk of Down's Syndrome, a change of policy from full karyotype analysis to rapid trisomy testing would result in the failure to detect chromosome abnormalities likely to have serious clinical significance in approximately 0.06% (1 in 1659) cases. However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available. [source]