ABSTRACT
Prenatal screening for Down's syndrome initially targeted high-risk pregnant women (> 35 years old). However, the vast majority of babies with Down's syndrome are born to younger women (as the majority of babies are born in this age category). It was first discovered that some serum analytes were altered in pregnancies affected with Down's syndrome (triple test). In the nineties, the association between an increased nuchal translucency measurement and trisomy 21 was noted. The use of this measurement in combination with serum markers has enabled an increased detection rate but still at the cost of a false positive rate of around five percent (combined test). Recently, major advances in sequencing technologies have allowed reasearchers to make use of the cell free fetal DNA in maternal blood. This new test (named non invasive prenatal test) made it into clinical use as early as 2011 in some countries. Its sensitivity is above 99 % for trisomy 21 and the false positive rate is very low. It is risk-free and much more accurate than previous approaches. It is largely favored over an invasive test by high risk women (advanced maternal age or high-risk combined test). Its use is still restricted by a high cost which is for the moment still entirely beared by the patient. The availability of NIPT in our routine practice and the increased complexity of screening options have highlighted the need for a more dedicated counselling consultation before Down's syndrome screening is performed.
Subject(s)
Down Syndrome/diagnosis , Prenatal Diagnosis/methods , Biomarkers/analysis , Biomarkers/blood , Female , Humans , Maternal Age , PregnancyABSTRACT
Screening in early pregnancy of some potential diseases has led to the improvement of the health of mothers and newborns. Recommended tests vary from one country to another. We presented the screening recommendations of screening proposed in the " Guide de Consultation Prénatale" (published in 2009) by the GGOLFB and ONE and put it in perspective with the recommendations of the KCE, the NICE of England, the HAS of France and the RANZCOG of Australia and New Zealand. It appears that at the first antenatal visit for pregnant women without particular risk factor, a full blood examination, serological screening for rubella, cytomegalovirus, toxoplasmosis, HIV, HBV the HCV and syphilis as well as an evaluation of the thyroid function are recommended screening tests. Finally, depending on the chosen strategy for gestational diabetes screening, a fasting glycemia might be proposed. As these recommendations are mainly based on studies of low level of evidence, future studies could change the currently proposed screening strategies.
Subject(s)
Mass Screening , Prenatal Diagnosis , Female , Genetic Testing , Humans , Practice Guidelines as Topic , Pregnancy/blood , Pregnancy Complications/blood , Pregnancy Complications/diagnosis , Pregnancy Trimester, FirstABSTRACT
BACKGROUND: Diabetes in pregnancy may result in unfavourable maternal and neonatal outcomes. Exercise was proposed as an additional strategy to improve glycaemic control. The effect of exercise during pregnancies complicated by diabetes needs to be assessed. OBJECTIVES: To evaluate the effect of exercise programs, alone or in conjunction with other therapies, compared to no specific program or to other therapies, in pregnant women with diabetes on perinatal and maternal morbidity and on the frequency of prescription of insulin to control glycaemia. To compare the effectiveness of different types of exercise programs on perinatal and maternal morbidity. SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 December 2005). SELECTION CRITERIA: All known randomised controlled trials evaluating the effect of exercise in diabetic pregnant women on perinatal outcome and maternal morbidity. DATA COLLECTION AND ANALYSIS: We evaluated relevant studies for meeting the inclusion criteria and methodological quality. Three review authors abstracted the data. For all data analyses, we entered data based on the principle of intention to treat. We calculated relative risks and 95% confidence intervals for dichotomous data. MAIN RESULTS: Four trials, involving 114 pregnant women with gestational diabetes, were included in the review. None included pregnant women with type 1 or type 2 diabetes. Women were recruited during the third trimester and the intervention was performed for about six weeks. The programs generally consisted in exercising three times a week for 20 to 45 minutes. We found no significant difference between exercise and the other regimen in all the outcomes evaluated. AUTHORS' CONCLUSIONS: There is insufficient evidence to recommend, or advise against, diabetic pregnant women to enrol in exercise programs. Further trials, with larger sample size, involving women with gestational diabetes, and possibly type 1 and 2 diabetes, are needed to evaluate this intervention.
