Lucia Pasquini

Impact of tissue harmonic imaging on measurement of nuchal translucency thickness

To evaluate the effect of tissue harmonic imaging (THI) on the measurement of fetal nuchal translucency thickness (NT).

The utility of infection screening in isolated mild ventriculomegaly: an observational retrospective study on 141 fetuses

The aim of this study was to evaluate the utility of screening for infections in case of isolated mild ventriculomegaly (imVM).

Quantitative variation analysis of fetal DNA in maternal plasma samples collected before and after amniocentesis

Aims:  The aim of this study was to evaluate possible procedure‐related variations in the levels of cell‐free fetal DNA (fDNA) in maternal plasma of women undergoing genetic amniocentesis.

Cell-free fetal DNA in maternal circulation after chorionic villous sampling

This study aims to estimate whether chorionic villous sampling (CVS) causes a significant increase of cell‐free fetal DNA (cffDNA) in maternal circulation.

Ability of cervical length to predict spontaneous preterm delivery in twin pregnancies using the receiver-operating characteristic curve analysis and an a priori cut-off value

Abstract In this retrospective study based on cervical length (CL) measurements between 20 and 24 + 6 weeks, we examined the ability of CL to predict spontaneous preterm birth (SPTB) in 222 twin pregnancies using the receiver-operating curve (ROC) analysis and an a priori cut-off. CL predicted SPTB before 34 weeks. Using the ROC the selected cut-off was 37.5 mm. Positive predictive value (PPV) and negative predictive value (NPV) regarding SPTB before 34 weeks for 37.5 mm were 15.7% and 5.3% respectively. Using the 5th percentile, PPV and NPV regarding SPTB before 34 weeks for 24 mm were 41.7% and 91.4%, respectively. The 5th centile of CL measurements should be employed in clinical practice. CL measurement is an adequate screening tool for SPTB since it has a high NPV. Studies on CL measurement and SPTB should explain which methodology they adopted to obtain a cut-off value and the rationale of their choice.

Prevalence of a positive TORCH and parvovirus B19 screening in pregnancies complicated by polyhydramnios

The aim of this study was to evaluate the rate of women with polyhydramnios who eventually screened positive to infectious disease by serum screening testing for TORCH and parvovirus B19.

Isolated fetal echogenic bowel in a retrospective cohort: The role of infection screening

OBJECTIVE Fetal echogenic bowel (FEB) is an ultrasonographic marker of fetal infection. We aimed to determine the utility of infection screening when FEB is isolated. STUDY DESIGN Retrospective observational study of isolated FEB cases between 2006-2014. Infection screening included toxoplasmosis, rubella, syphilis, cytomegalovirus (CMV), herpes simplex virus and parvovirus B19. Fetal karyotyping, screening for cystic fibrosis (CF) and follow-up scans were also offered, according to international standards. Incidence of infection and 95% confidence interval (CI) were calculated. RESULTS 148 patients with 154 fetuses were included. 4.7% of mothers developed acute infection: four patients developed CMV infection (2.7%, 95% CI 1.1-6.9%), in two fetuses infection was confirmed with amniocentesis and pregnancies were terminated; Parvovirus B19 infection was detected in 2 patients (1.4%, 95% CI 0.4-5.0) and confirmed in one fetus, which developed anemia; there was one toxoplasmosis maternal infection (0.7%, 95% CI 0.1-3.8%) treated with spyramicin, whose fetus was not infected. Percentage of chromosomal/genetic abnormalities was 3.2%, CF 1.3%, intra-amniotic bleeding 1.3%, FGR 34% and other ultrasonographic abnormalities at follow-up scans 18%. CONCLUSIONS The association between isolated FEB and fetal infection is uncommon (1.9% in our population). CMV maternal infection screening is supported by our findings, whereas screening for other infections needs to be further investigated.

Latent Syphilis Infection in Pregnancy: An Ultrasound Diagnosed Case of Penicillin Treatment Failure

We report a case of early latent syphilis (reactive serologic tests without clinical evidence of disease within 24 months from the onset of the infection) in pregnancy. Despite an appropriate maternal treatment with benzathine penicillin G, sonographic signs of fetal syphilis were detected. Follow-up scans, in addiction to serial serological tests, have allowed the identification of fetal infection and therefore the failure of antibiotic therapy. We highlight the importance of ultrasound in suspecting fetal infection and in evaluation of the fetal response after penicillin treatment.

Intraobserver and interobserver reproducibility of third trimester uterine artery pulsatility index

The primary aim of the study was to investigate intraobserver and interobserver reproducibility of uterine artery (UtA) pulsatility index (PI) in the third trimester of pregnancy. The secondary aim of the study was to examine whether high maternal body mass index (BMI) or gestational age (GA) influence the reliability of this measurement.

P36.05: Twin–twin transfusion syndrome: a case of hydrops of the recipient after massive amnioreduction in the third trimester

Structural or karyotypic discordance in monozygotic twins has important implications for prenatal diagnosis and management, particularly when considering selective fetocide of the affected cotwin. Here we present the ultrasound and cytogenetic findings of monozygotic twins discordant for phenotype and genotype. A 39year-old woman was referred at 15 weeks’ gestation owing to a twin pregnancy with a structurally abnormal co-twin. She had conceived naturally, without any assisted reproductive treatment. Ultrasound revealed a normal male fetus and an abnormal female co-twin with cystic hygroma and hydrops fetalis. We performed a chorionicity scan and presumed a monochorionicity on the basis of sonographic findings, which included a thin dividing membrane, positive ‘T sign’ and single placenta. In addition, a previous ultrasound procedure had shown a single gestational sac at 6 weeks’ gestation. However, the discordant gender was puzzling. Therefore, we decided to perform cytogenetic studies to determine the chorionicity, which is a critical factor in the contemplation of selective fetocide in a twin pregnancy. We conducted genetic amniocentesis for each of the amnionic cavities. Cytogenetic analysis revealed a 46, XY karyotype in the amniocytes of the normal fetus and a 45, X karyotype in the amniocytes of the abnormal co-twin. Molecular analysis of polymorphic small tandem repeat markers by quantitative fluorescent PCR confirmed the presence of monozygotic twins. Considering the high probability of spontaneous death in the abnormal co-twin and the risks associated with selective fetocide, the pregnancy was terminated at 17 weeks’ gestation. Postmortem findings confirmed the prenatal sonographic findings, and the placenta was monochorionic-diamnionic. This case demonstrates that prenatal sonographic determination of the zygosity of twins can be as important as cytogenetic studies in the diagnosis and management of a twin pregnancy with discordant structural anomalies.