Cytomegalovirus infection in pregnancy: review of the literature

The aim of this review is to summarize the principles of cytomegalovirus (CMV) infection in pregnancy

Placental mesenchymal dysplasia, a case of intrauterine sudden death in a normal-sized fetus

Introduction: placental mesenchymal dysplasia (PMD) is a rare placental anomaly characterized by placentomegaly and grapelike vesicles which resemble molar pregnancy. Case: we report the case of 33-year-old woman (1-gravid) who visited our clinic at 11 weeks of gestation due to a suspected molar pregnancy. Ultrasound examination showed an enlarged placenta with multiple vesicular lesions. Maternal human chorionic gonadotropin level was normal and chorionic villus sampling showed a normal male karyotype (46 XY). The fetus exhibited no specific anomalies and fetal growth was normal during pregnancy with no signs of fetal suffering. At 31 weeks, the pregnancy ended owing to intrauterine fetal death (IUFD). The patient delivered a normal-sized male fetus (1800g) with no definite anomalies. A pathological examination led to a diagnosis of placental mesenchymal dysplasia. Conclusion: in the presence of placental ultrasound anomalies with no other sign of fetal suffering, the pregnancy should be considered at risk and, therefore, should be monitored carefully including the option of hospitalization

Is counselling for CCAM that difficult? Learning from parental experience

Objective: Cystic adenomatoid malformations (CCAM) are relatively rare developmental abnormalities of the lung. Despite outcome is usually benign, parents often exhibit high anxiety level. The purpose of the present study was to collect parents’subjective experience of communication of diagnosis when expecting a fetus with CCAM

Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre

Recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT - Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. Case: we report six cases of women who underwent chorionic villus sampling (CVS) or amniocentesis to confirm the results from NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. Results: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization(Array CGH) the karyotype of all 5 fetuses was found to be normal. Conclusion: results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available

The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis

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

Prenatal screening of Cystic Fibrosis: a single centre exeperience

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years (1, 2). Cystic fibrosis is the most common autosomal recessive disease in the european population (3). More that 1500 mutations and a large number of polymorphisms have been identified so far from 1989. In the past 10 years we examined in our centre 25393 fetuses. The exams brought to the identification 0f 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygous in the examined sample was 1/27,5 while that of the affected was 1/2821. 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 (4-8)

Effect of vaginally administered DHAfatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial

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