Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

OBJECTIVES: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. METHODS: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free ß-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008. RESULTS: of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%]. CONCLUSION: in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free ß-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.

Increased nuchal traslucency in normal karyotype fetuses.

Nuchal traslucency (NT) measurement between 11 and 14 weeks' gestation is a reliable marker for chromosomal abnormalities, including trisomy 21. However, even if conventional karyotyping is normal, increased NT is a predictive value of adverse pregnancy outcome, because it is associated with several fetal malformations, congenital heart defects, genetic syndromes, intrauterine death and miscarriages; the majority of these structural anomalies are undetectable before birth. The risk is proportional to the nuchal translucency thickness, in fact it statistically increases after measurement reaching 3.5 mm or more. However, when these chromosomally normal fetuses with an enlarged NT survive, even if a detailed ultrasound examination and echocardiography fail to reveal any abnormalities, their uneventful outcome and postnatal developmental delay will be not statistically increased when compared to the general population. These parents should be confidently reassured that the residual chance of structural anomalies and abnormal neurodevelopment may not be higher than in the general population.

Maternal weight gain during pregnancy and neonatal birth weight: a review of the literature.

Obesity has become a serious global public health issue and has consequences for nearly all areas of medicine. Within obstetrics, obesity not only has direct implications for the health of a pregnancy but also impacts on the weight of the child in infancy and beyond. As such, maternal weight may influence the prevalence and severity of obesity in future generations. Pregnancy has been identified as a key time to target a weight control or weight loss strategy to help curb the rapidly growing obesity epidemic. This study reviews the current evidence for interventions to promote weight control or weight loss in women around the time of pregnancy. Studies have shown positive correlations between both maternal pre-pregnancy weight and gestational weight gain with the birth weight of the infant and associated health risks, so interventions have been put to clinical trials at both time points. Many women are concerned about the health of their babies during pregnancy and are in frequent contact with their healthcare providers, pregnancy may be an especially powerful "teachable moment" for the promotion of healthy eating and physical activity behaviors among women.

Fetal growth restriction: current perspectives.

Intrauterine growth restriction is one of the most common and complex problems in modern obstetrics. The cut off value mainly used for defining an IUGR is at the 10th percentile. There are many evidence demonstrating that the adverse perinatal outcome are mainly confined to infants below the 5th or 3th percentile. The mains causes for the onset of IUGR can be divided into three categories: maternal, fetal and placental. Aim of this study is to obtain a review from which speculate useful indication in clinical practice. Evidence from randomized controlled trials finds few interventions beneficial in preventing or treating IUGR.

Fetal cardiac function during the first trimester of pregnancy.

Chromosomally normal first trimester fetuses with an increased nuchal translucency measurement have an elevated risk of congenital heart defect (CHD). so there is an increased demand for imaging the fetal heart during the first and early second trimesters of pregnancy.Echocardiographic and anatomical correlations in firsttrimester fetuses show that by 11 weeks' gestation, the position of the fetal heart within the chest is similar to that in later gestation, and the spatial relation of the great arteries and their relative sizes are similar to those on second-trimester scans by 12 weeks' gestation.In the first trimester during the heart analysis it's possible value: anatomic structure (size, rate), hemodynamic development through analysis of these waveforms and flow patterns (inflow and outflow waveforms of the diastolic filling and the systolic ejection) and modification during the first trimester.

Treatment of gestational diabetes: oral hypoglycemic agents or insulin?

Our report aims to verify whether perinatal maternal glycemic control in gestational diabetes can only be achieved with insulin or with oral hypoglycaemic agents. Then we want to evaluate the efficacy and safety of oral hypoglycemic agents in the treatment of gestational diabetes and then to compare these results with those associated with the use of insulin.

Antiphospholipid Syndrome during pregnancy: the state of the art.

Obstetric complications are the hallmark of antiphospholipid syndrome. Recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, HELLP syndrome, arterial or venous thrombosis and placental insufficiency are the most severe APS-related complication for pregnant women. Antiphospholipid antibodies promote activation of endothelial cells, monocytes and platelets, causing an overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. These factors, associated with the typical changes in the hemostatic system during normal pregnancy, result in a hypercoagulable state. This is responsible of thrombosis that is presumed to provoke many of the pregnancy complications associated with APS. Obstetric care is based on combined medical-obstetric high-risk management and treatment with the association between aspirin and heparin. This review aims to deter- mine the current state of the art of APS by investigating the knowledge achievements of recent years, to provide the most appropriate diagnostic and therapeutic management for pregnant women suffering from this syndrome.

Nonvisualization of fetal gallbladder: a case report and review of the literature.

Failure to visualize prenatally the gallbladder at ultrasound scan may indicate different fetal malformations with a highly variable prognosis, but also a simple anatomic variable. An adequate prenatal management could help in defining diagnosis and prognosis.

Parvovirus B19 during pregnancy: a review.

Several infections in adults warrant special consideration in pregnant women given the potential fetal consequences. Among these is parvovirus B19 deserves special attention since the harmful effects on the pregnant woman and fetus. It can then cause fetal anemia, non-immune fetal hydrops and fetal death. Among cases with fetal demise, B19 is foundin significant numbers, especially in the second andthird trimesters of pregnancy. There is no specific treatment or prophylaxis available against B19 infection, but counseling of non-immune mothers and active monitoring of confirmed maternal infections with intervention to correct fetal anemia is likely to decrease mortality.

Update on systemic lupus erythematosus pregnancy.

Women with Systemic Lupus Erythematosus (SLE) still face significant risks when embarking on a pregnancy. Improvements in the field of pathophysiology, in diagnosis and a greater number of therapeutic options in the treatment of SLE, have made the medical community regard these patients with less trepidation. Despite these advances, however, the risk of significant morbidity to both the mother and the fetus still exists. THE INTERACTION OF LUPUS AND PREGNANCY IS VERY COMPLEX: the consensus is that pregnancy can worsen the lupus disease process, even if this is not predictable, and pregnancy can mimic the clinical manifestations of lupus, particularly preeclampsia/eclampsia. More specifically, pregnancy is associated in 50 to 60% of cases with a clinical flare manifesting as renalor hematological symptoms. Severe flares are uncommon (10%) and the risk of maternal death is now2 to 3%. The risk of the fetus remains high, however with increased risk of spontaneous fetal wastage and premature births, by 4.8 and 6.8 times, respectively. It is well documented that antiphospholipid syndrome and antiphospholipid antibodies are strongly associated with fetal wastage. Low-dose aspirin orheparin improves fetal outcome in these cases.Timing a pregnancy to coincide with a period of disease quiescence for at least 6 months strongly increases the chances for a healthy and uneventful pregnancy for both mother and baby. Close surveillance, with monitoring of blood pressure, proteinuria and placental blood flow by doppler studies helps the early diagnosis and treatment of complications such as preeclampsia andfoetal distress. Women with SLE frequently need treatment throughout pregnancy based on hydroxychloroquine, lowdose steroids and azathioprine. This update, based on previous available literature, should inform rheumatologists, obstetricians and neonatologists who guide patients in their reproductive decisions.