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At least 307 records · Page 17Linked to original sources
PubMed2003

Prenatal diagnosis for detection of aneuploidy: the options.

The value of all noninvasive prenatal tests must be viewed with the perspective of the consequences of invasive testing. Regarding second trimester noninvasive testing, biochemical screening is more accurate in establishing risk than maternal age alone. One or more major ultrasound abnormalities, nuchal thickening, or a shortened humerus should raise concern for Down syndrome regardless of the patient's a priori risk based on age or biochemical markers. Isolated minor ultrasound markers should not be used in calculating risk in low-risk patients regarding Down syndrome unless the biochemical profile already places the patient at risk or in a borderline risk zone. If the ultrasound finding is hyperechoic bowel, problems other than aneuploidy may be the cause, including cystic fibrosis, infection, or hemorrhage, and these problems must be considered if hyperechoic bowel is an isolated finding. Improved risk adjustment seems to be applicable to a priori high-risk patients with completely normal sonograms. Genetic sonograms with specific risk adjustment schemata may be used to adjust a priori risk (either maternal age or biochemical screening results) at centers in which this has proven to be accurate, but whether this is statistically sound remains to be determined. The goal of second trimester ultrasound screening is to identify at-risk fetuses better and offer invasive testing to a more select group of patients. As the value of first trimester screening becomes more evident and practical, and if the risk of chorionic villus sampling becomes an acceptable norm, the patient population that reaches the second trimester of pregnancy will be select. Therefore, we can anticipate that second trimester screening and invasive testing may be needed only in a minority of cases, and the practice standards of prenatal testing and sonography (including minor ultrasound markers) will change entirely.

Amniocentesis↗
PubMed2001

Levels of knowledge of Down syndrome and Down syndrome testing in Australian women.

At their first hospital antenatal visit, 209 women were interviewed to explore their level of knowledge of Down syndrome and the available prenatal tests. Overall, the women had limited knowledge. Non-Caucasian women had less knowledge of Down syndrome, available prenatal tests and the association of Down syndrome with advanced maternal age than Caucasian women. Women with a history of a previous pregnancy and women over 35 years of age were not more aware of Down syndrome or the available tests than other women. These findings have significant implications for antenatal education and the implementation of screening programs for Down syndrome.

Adult↗
PubMed2006

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.

BACKGROUND: Over the last 25 years there have been major advances in methods for prenatal testing of inherited skin disorders. Since 1979, our group at the St John's Institute of Dermatology has performed 269 prenatal diagnoses, using a variety of approaches, including fetal skin biopsy (FSB), chorionic villus sampling (CVS) and preimplantation genetic diagnosis (PGD). OBJECTIVES: This study was designed to review the clinical indications, testing procedures and laboratory analyses for all prenatal tests conducted at St John's over this period. METHODS: FSBs were examined for morphological and, when relevant or feasible, immunohistochemical abnormalities. The DNA-based tests involved screening by nucleotide sequencing, restriction enzyme digests or, in a few cases, by linkage analysis. Results Of the 269 tests, 191 were FSB, 76 were CVS and two were PGD. The major indications for FSB were epidermolysis bullosa (EB) (138 cases, including 88 junctional and 48 dystrophic), ichthyoses (37 cases, including 22 tests for harlequin ichthyosis) and oculocutaneous albinism (12 cases). Of the CVS procedures, 75 were for EB (40 junctional, 35 dystrophic) and one was for the EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome. Both of the PGD procedures were for the skin fragility-ectodermal dysplasia syndrome. All tests provided accurate diagnoses and the fetal loss rate was approximately 1% for both FSB and CVS. CONCLUSIONS: The development of prenatal testing has proved to be of great benefit for individuals or couples at risk of having children with severe inherited skin disorders and, in the absence of a cure, prenatal testing along with appropriate counselling has become an important translational benefit of basic research and an integral part of clinical management.

Biopsy↗
PubMed2006

Maternal serum screening and psychosocial attachment to pregnancy.

OBJECTIVE: The purpose of this study was to examine whether maternal serum screening (MSS) is associated with lower maternal attachment to pregnancy. METHODS: One hundred one pregnant women identified as at risk for fetal anomaly due to advanced maternal age completed a survey targeting their decisions regarding prenatal testing and their psychological attachment to their pregnancy. Of these women, 38 opted for no prenatal testing, 32 underwent MSS, and 31 had amniocentesis in their current pregnancy. RESULTS: The results indicate that, throughout their pregnancy, the women who underwent MSS reported lower bonding levels as compared with those who chose either amniocentesis or no testing procedures. CONCLUSION: The results suggest that MSS may disrupt the developmental trajectory of the maternal-fetal bond even after favorable results are known. This may be due in part to the fact that the probabilistic nature of MSS results creates feelings of confusion rather than reassurance for many women following receipt of favorable results.

Adult↗
PubMed2003

Survey of physician attitudes toward HIV testing in pregnant women in Ohio.

HIV infection among women of childbearing age is still increasing in the United States. In most states, HIV testing of women or neonates during pregnancy is not mandatory. The current study assessed HIV prenatal testing practices among obstetrician-gynecologists and primary care physicians listed in a regional physician referral data base in a predominantly rural region. Between December 2000 and March 2001 a 20-question survey was sent by mail to regional physicians in obstetrics/gynecology and primary care regarding physician practice demographics and prenatal HIV testing practices. Of 1116 surveys sent, 431 were returned (38.6% response). Only 42% of physicians offered universal HIV prenatal testing. Factors associated with universal testing (p < 0.5) included obstetrics/gynecology as the practice specialty (90%) physicians' age younger than 50 years, and a practice with predominantly Medicaid or African American patients. Further educational and public health initiatives may be needed to increase nonselective, universal HIV testing in pregnant women.

Adult↗
PubMed2006

Chorionic villous sampling: differences in patients' perspectives according to indication, ethnic group and religion.

BACKGROUND: The decision to undergo prenatal testing may be influenced by ethnic or religious factors. OBJECTIVES: To evaluate factors that might influence the decision of pregnant women to choose chorionic villous sampling for prenatal testing. METHODS: The study group comprised 239 women referred for prenatal diagnosis who elected to undergo CVS. The data were analyzed according to indication, ethnic group and religion. RESULTS: Among women undergoing CVS because of advanced maternal age and anxiety, we noted a significantly high proportion of unbalanced families, i.e., with three or more children of the same gender and deviated gender ratio. We found a significant excess of males among the Jewish families and a significant excess of females among the non-Jewish families. Jews were over-represented in the monogenic group while Christian Arabs were over-represented in the maternal age/anxiety group. CONCLUSIONS: The proportion of women who chose CVS for prenatal diagnosis varied according to indication, ethnic group and religion. The data in this study indicate that CVS may have been utilized for balancing families with > or = 3 or more children of the same sex. Christian Arabs chose CVS more often than the other groups. Jewish women may have utilized CVS for family balancing of both sexes, while non-Jews may have utilized CVS for balancing families with > or = 3 daughters.

Chorionic Villi Sampling↗
PubMed2000

Prenatal UPD testing survey in Robertsonian translocations.

A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases. The results presented here, combined with other available data, provide preliminary elements for genetic counselling in these common chromosomal rearrangements.

Amniotic Fluid↗
PubMed1997

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis.

Amniocentesis↗
PubMed1998

[Open neural tube defects in prenatal diagnosis].

The problem of open neural tube defects (ontd) is discussed in the light of results of prenatal tests performed in the district of Warsaw. These results seem to bear some epidemiological significance allowing estimation of approximate frequency of ontd as well as recurrence risk for the purpose of genetic counselling. Prenatal diagnosis of ontd is very important for individual families--particularly those with increased risk. However, in view of very small number of prenatal tests and the fact that maternal serum screening and ultrasonografic screening are practically not available the demographic impact of prenatal diagnosis in Poland on the frequency of ontd (and other genetic diseases) in Poland must be negligible.

Acetylcholinesterase↗
PubMed1994

The attitudes of midwives to maternal serum screening for Down's syndrome.

An anonymous questionnaire was sent to determine the opinions and attitudes of 342 Leicestershire midwives who are responsible for counselling antenatal patients about maternal serum screening for Down's syndrome. This asked questions regarding grade, background training, attitudes towards testing for spina bifida and Down's syndrome, and opinions upon termination of pregnancy for these and other conditions. A total of 188 (55%) midwives completed the questionnaire. In all, 40.4% of midwives admitted that they did not feel confident counselling for the serum screening test for Down's syndrome; 38.3% of midwives did not feel termination of pregnancy for Down's syndrome was justified; 25% of midwives admitted that they were not in favour of this prenatal test. In conclusion, if such a screening programme is to be introduced across the UK, more attention must be paid in advance to the views and training requirements of those midwives who will be associated with the test. It should not be assumed that ethical considerations, relating to a prenatal test, are of minor significance to those health care professionals involved in its implementation.

Abortion, Induced↗