Screening in women's health, with emphasis on fetal Down's syndrome, breast cancer and osteoporosis.

Department of Obstetrics and Gynecology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Human Reproduction Update (Impact Factor: 8.66). 12(5):499-512. DOI: 10.1093/humupd/dml027
Source: PubMed

ABSTRACT Screening tests have become increasingly popular in women's health care over the last two decades. The initiative for screening is typically generated by either an agency or the health care professional being consulted for some reason. In many instances, however, the demand for screening tests is patient driven with the health care provider being poorly prepared to determine the usefulness of screening. This review illustrates the complexity of screening using three disorders where early detection and treatment have the potential to improve the quality and longevity of life. Prenatal diagnosis of Down's syndrome does not offer the parents the opportunity for cure but does offer the opportunity for education and rational choice as the impact of the diagnosis on the family is weighed. The evidence for breast cancer screening is more persuasive for older than younger women, but even in older women, there is a balance of risks and benefits. Treatment options for osteoporosis have improved in terms of reductions in fracture risk as well as beneficial effects on bone density, but evidence of the effectiveness of a screening programme for this condition in an unselected population is lacking. Ultimately, it is crucial that women be provided with clear and comprehensive information about the screening programme, in terms of possible gains but also costs of various kinds: physical, economic and psychological.

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    ABSTRACT: Cancer during pregnancy, referred to as gestational cancer (GC), is infrequent but can occur in 1.0% of pregnant women. Hepatocellular carcinoma (HCC) is often lethal and is the fifth most common cancer worldwide, while breast adenocarcinoma (breast cancer) is the most common cancer seen during pregnancy. Liver and breast carcinomas are two examples of cancer types that present challenges to the obstetrician due to late and/or delayed diagnosis during pregnancy. Delays in diagnosis limit choices available to physicians regarding surgery, radiation, and chemotherapy. In view of such clinical situations, a role for maternal serum and placental biomarker (MSPB) screening results contributing to cancer diagnosis should be recognized; overlooking such data in GC could result from a lack of knowledge and understanding of MSPB biology, chemistry, and physiology. In this report, obstetricians and perinatologists seeking a diagnosis are urged to take advantage of available results from MSPB screening programs obtained from first- and second-trimester patient data. Using liver and breast cancer as examples, the present review and commentary seeks to demonstrate that MSPB levels, profiles, patterns, and cellular responses could provide foundational data in planning invasive or noninvasive methods and procedures (biopsy, imaging, scans, surgery) to attain a diagnosis as soon as possible in pregnancy. Finally, MSPB epidemiological and cancer risk studies could aid in providing baseline information for decisions regarding GC diagnosis from knowledge of their proposed roles in reducing lifetime risk of malignancies such as breast cancer.
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    ABSTRACT: Most prenatal screening laboratories try to maintain a planned balance between the detection rate (DR) and the false positive rate (FPR) of their screening protocols. Such labs aim at sustaining a constant FPR of 5% or less while sustaining a screen positive detection of 70-90 percent depending on the disorder. In the present report, five screen examples are presented which are known to produce false positive (FP) results. The FP cases were screened using the quad test for Down syndrome and maternal serum (MS)/amniotic fluid alpha-fetoprotein (AFP) for neural tube defects.The five diseases and disorders encompass the following: a) Beckwith-Widemann syndrome (BWS), a congenital disorder; b) liver cancer (LC) and breast cancer; (BC); and c) hereditary thrombophilia(TBP) and systemic lupus erthyromatosus (SLE). While BWS and LC produced elevated maternal serum (MS) AFP levels, the BC screen showed high MS human Chorionic gonadotrophin (hCG) and MS dimeric inhibin (DIA) values accompanied by normal AFP and MS unconjugated estriol (uE3) levels. In comparison, the hereditary TBP screen yielded reduced levels of all four analytes of the quad screen. The screening results and case histories of all five patients are discussed, in addition to a description of the properties, traits, and clinical testing of each of the diseases/disorders involved. As noted in each discussion, prior knowledge of the case history and health status of the patients can forewarn the screening lab and greatly aid the practitioner in the subsequent diagnosis, treatment, and management of the disease during pregnancy.
    01/2014; Research(1):751. DOI:10.13070/rs.en.1.751

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Jun 1, 2014