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During pregnancy, iron deficiency anemia is recognized as a specific risk factor for both adverse maternal and perinatal outcome. We decided to test the hypothesis that the daily administration of Lafergin(®), a dietary multicomponent based on Ferrazone(®) (Ferric Sodium EDTA), Lactoferrin, Vitamin C and Vitamin B12, from first trimester of pregnancy until the end of gestation, may significantly reduce, in anemic women, the severity of anemia compared to controls who received ferrous sulfate or liposomal iron.

In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and preference of operators, the characteristics of patients, timing and urgency of intervention. We compared the two most known and used techniques, modified Misgav-Ladach and traditional Pfannenstiel-Kerr, and analyzed their impact on primary, short- and long-term outcomes and outcome related to health service use.

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 β-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 β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.

Objective: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness., Methods: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents., Results: a total of 12.472 Caucasian women gave informed consent for this test. Seventy-seven cases were excluded. From the 12.395 amniotic fluid analysis remained, the following was found: 2 cases of 35delG homozygosis and 352 cases of heterozygous carriers (42 M34T mutation, 298 35delG mutation, 12 double heterozygosis M34T/35delG). The follow up in first year of life in the 42 newborns with heterozygosis for M34T mutation showed a mild deafness in 23 cases., Conclusions: in our series, presence of heterozygosis M34T mutation is associated in more than 50% of cases to mild congenital deafness.

Objectives: to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery., Methods: this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment group and 21 were assigned to the control group, and received placebo. One gram of DHA was administered vaginally once a day starting from 21 (1 week of gestation until 37 weeks + 0 day). The primary endpoint was to determine the length of the pregnancy and secondary endpoint the newborn weight., Results: gestational age at delivery was 38.6 (SD, 1.05) weeks in the docosahexaenoic acid group and 37.6 (SD, 0.84) weeks in the placebo group (P =0.007). For women who completed the treatment and delivered at term there was a statistically difference of the weights in the two groups [3082.1 (SD, 293) gr cases vs 2699.3 (SD, 150) gr controls P <0.0001]., Conclusion: in high risk patients for preterm delivery, the vaginal administration of a DHA increases length of gestation and newborn birth weight.

Thyroid diseases are common during pregnancy and an adequate treatment is important to prevent adverse maternal and fetal outcomes. Subclinical diseases are very frequent but not easily recognized without specific screening programs. In this article we try to summarize the knowledge on the physiologic change of the thyroid and pathological function during pregnancy; we also try to describe the best way of diagnosis and treatment of thyroid dysfunction.

Amniotic band sequence (ABS) is the term applied to a wide range of congenital anomalies, most typically limb and digital amputations and constriction rings, that occur in association with fibrous bands (1). These alterations may be associated or not with cutaneous and visceral abnormalities.This work, which is a literature review, examines several studies that relate to cases of amniotic band syndrome (SBA). In particular, our attention was focused on the causes and pathogenesis of the SBA. These for the most part are still unknown, but from what we observe in different jobs, are due to a mechanism of vascular damage. Therefore in this paper we examine chemical risk factors, like smoking, drug use, maternal hyperglycemia, mechanical risk factors such as the puncture of the amniotic sac after amniocentesis. We also speak of the altitude as a risk factor related to blood pressure, of the increased incidence of disease in primigravid, in women with a low level of education, in which the pregnancy was not planned, and then we talk of a higher incidence in young fathers and of the role of familiarity.

Shoulder Dystocia (SD) is the nightmare of obstetricians. Despite its low incidence, SD still represents a huge risk of morbidity for both the mother and fetus. Even though several studies showed the existence of both major and minor risk factors that may complicate a delivery, SD remains an unpreventable and unpredictable obstetric emergency. When it occurs, SD is difficult to manage due to the fact that there are not univocal algorithms for its management.Nevertheless, even if it is appropriately managed, SD is one of the most litigated cause in obstetrics, because it is frequently associated with permanent birth-related injuries and mother complications.All the physicians should be prepared to manage this obstetric emergency by attending periodic training, even if SD is difficult to teach for its rare occurrence and because in clinical practice it is often handled by experienced obstetricians.THE PURPOSE OF THIS STUDY IS TO REVIEW THE LITERATURE CONCERNING THE EVERLASTING PROBLEMS OF SD: identification of risk factors for the early detection of delivery at high risk of SD and a systematic management of this terrifying obstetric emergency in order to avoid the subsequent health, medico-legal and economic complications.

Objective: The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene., Methods: A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid collected from women undergoing mid-trimester amniocentesis.The genetic diagnosis of CF was based on research of the main mutations of the CFTR gene on fetal DNA extracted from the amniocytes, (first level screening) using different commercial diagnostic systems. A second level screening using DHPLC, on the amniotic fluid and on a blood sample from the couple, was offered in case of fetuses heterozygous at first level screening., Results: Of 3829 fetuses, 134 were found to be positive, 129 heterozygous and 5 affected. Of the 129 couples, following appropriate genetic counselling, 53 requested a second level screening. Through the use of DHPLC, 44 couples were found to be negative, and in nine couples, nine rare mutations were identified., Conclusions: The first level screening can be useful to evidence up to 75% of the CF mutations. The second level screening can identify a further 10% of mutant alleles. DHPLC was found to be a reliable and specific method for the rapid identification of the rare CFTR mutations which were not revealed in initial first level screening.

Objectives: To validate new references charts and equations for fetal biometry in an Italian unselected population., Methods: A cross-sectional study involving 4896 women with singleton viable pregnancies, at Artemisia Fetal Maternal Medical Centre between May 2009 and December 2009. Each woman was scanned only once, between 14+0 and 40+0 weeks of gestation. The fetal standard biometric measurements were recorded. For each parameter, regression models were fitted to estimate the percentile at each gestational age. In order to be compared to other reference equations, the fetal biometric measurements at each gestational age were expressed as Z-scores., Results: New fetal charts and references equations for Italian population were developed according to the recommend multistep statistical procedure., Conclusion: To our knowledge this is the first Italian study with the largest sample size ever reported in the literature. In addiction, our newer charts of reference centiles for fetal biometric measurements are useful in the obstetrical clinical practice for the Italian population.

Amniotic fluid (AF), routinely used for prenatal diagnosis, contains large amounts of proteins produced by the amnion epithelial cells, fetal tissues, fetal excretions and placental tissuesAlthough many amniotic fluid proteins have been identified and are currently used to detect potential fetal anomalies, little is known about the functions of these proteins and how they interact with one another. Identification of changes in the protein content of amniotic fluid, therefore, may be used to detect a particular type of pathology, or to ascertain a specific genetic disorder. In the present work we used a proteomic approach, combining 2DE and MS, in order to study the protein composition of AFS.

Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn and the cause of over half the deaths from congenital anomalies in childhood. Prenatal diagnosis, possible as early as 15 weeks of gestation, allows physicians and families the greatest number of therapeutic options, and can improve the postnatal outcome. There are several potential indications for performing such examination. Evaluation of the heart in the setting of restricted fetal growth or fetal distress is often recommended. Whenever extracardiac anomalies are detected during fetal ultrasound examination or in presence of chromosomal abnormalities detected with amniocentesis, cardiac assessment is mandatory. The test should also be performed as part of the assessment of fetal arrhythmias. Finally, whenever congenital heart disease is suspected for other reasons, such as maternal exposure to teratogenic substances or a parental history of previous children with congenital lesions, the examination should be considered. The performance of a fetal echocardiogram requires experience and a systematic approach. Guidelines for training have been formulated, and only qualified individuals should perform this highly specialized examination. A description of the techniques of heart examination is presented below.

Objectives: To compare fetal biometric measurements with standard growth charts for ultrasound parameters existing from the last 30 years., Study Design: A preliminary prospective study., Setting: Artemisia Mean Centre of Perinatal Diagnosis, Rome,Italy., Material and Method: A cross sectional study involving 1000 pregnant women with uncomplicated singleton pregnancy between 14(th) and 41(th) weeks of gestation from 1 January to 30 June 2008. All recruited pregnant women enrolled had an abdominal ultrasonography for fetal biometry. For each measurement, regression models were fitted to estimate the mean and SD. The results were compared with existing references from the last 30 years using Student's T distribution. Moreover, neonatal weights were obtained from 1977 to 2008 by ISTAT., Results: One thousand normal fetuses from pregnant women, between 22(th) and 23(th) weeks, between 32(th) and 33(th) weeks and at 38(th) week, were thoroughly measured. THERE WERE SIGNIFICANT DIFFERENCES FROM THE COMPARISON WITH OUR DATA FOR EACH GESTATIONAL AGE: femur length and homer length, abdominal circumference, head circumference and occipitofrontal diameter were longer than all parameters of existing references from the last 30 years. The analysis of neonatal weights on ISTAT data from 1977 to 2007 demonstrated a significant increment through the years., Conclusion: Fetus is grown up across the years. It is necessary to modify the standard growth charts for ultrasound parameters existing from the last 30 years with actually fetal biometric measurements. It is helpful for a correct clinical approach and for an appropriate management mother-fetus.

Objective: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life., Methods: In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles., Result: We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821., Conclusion: We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.

The SCA-TEST, Prenatal Aneuploidies Screening, is an innovating program with very articulated and differentiated calculation potentials. It is a software which allows executing a sequence-like rational screening involving the ultrasound study of the first and second trimester. The program enables to execute a complete and different- levels combined screening, through very sophisticated mathematic analysis methods. In particular, it enables to make: a first trimester screening combining it with nuchal translucency, and biochemical parameters of free beta-hCG and PAPP-A; a second trimester screening by the evaluation of up to 6 biometric parameters (biparietal diameter, cranial circumferentia, femur, humerus, pyelectasis and plica nucalis), and up to 7 associated morphologic parameters (hyperechogenic bowel, cardiac foci, interventricular defect, pericardial effusion, tricuspid valve regurgitation, right/left heart disproportion, and structural abnormalities). The purpose of the study was to present the performance of the SCA TEST in the second trimester of pregnancy through the evaluation of a prospective study performed in the period between April 2007 and December 2007 on 1000 women who underwent the SCA TEST followed by amniocentesis. Studying all the cardiovascular and non-cardiovascular markers, SCA TEST made it possible to identify 62.5% fetuses affected by Trisomy 21 with a specificity of 94.6%, and a 5.4% of false positive. Considering only women older than 35 years the detection rate reaches 80% with a 7.8% of false positive. The statistical analysis confirmed that the second trimester screening gives essential information regarding the aneuploidia risks in particular in high risk women, and in those who did not perform first trimester screening.

Small supernumerary marker chromosomes (sSMCs) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD).A case report of a familial small supernumerary marker chromosome (sSMC) through a structural and a segregation study is reported.