Ovarian cancer (OC) is the seventh most common malignancy diagnosed among women, the eighth leading cause of cancer mortality globally, and the most common cause of death among all gynecological cancers. Even though recent advances in technology have allowed for more accurate radiological and laboratory diagnostic tests, approximately 60% of OC cases are diagnosed at an advanced stage. Given the high mortality rate of advanced stages of OC, early diagnosis remains the main prognostic factor. Our aim is to focus on the sonographic challenges in ovarian cancer screening and to highlight the importance of sonographic evaluation, the crucial role of the operator΄s experience, possible limitations in visibility, emphasizing the importance and the necessity of quality assurance protocols that health workers have to follow and finally increasing the positive predictive value. We also analyzed how ultrasound can be combined with biomarkers (ex. CA-125) so as to increase the sensitivity of early-stage OC detection or, in addition to the gold standard examination, the CT (Computed tomography) scan in OC follow–up. Improvements in the performance and consistency of ultrasound screening could reduce the need for repeated examinations and, mainly, ensure diagnostic accuracy. Finally, we refer to new very promising techniques such as liquid biopsies. Future attempts in order to improve screening should focus on the identification of features that are unique to OC and that are present in early-stage tumors.

Human papillomavirus (HPV) is a virtually necessary cause of cervical cancer, and HPV genotypes are categorized either as high-risk or low-risk based on their potential to cause malignancy of the cervix. HPV-DNA detection is used widely for screening women at risk. However, its clinical significance is not proven sufficiently in pregnancy. The aim of this review was to summarize published data referring to the integration of the HPV-DNA test in cervical cancer screening during pregnancy. PubMed and Scopus were searched for articles investigating the HPV-DNA test during pregnancy as a primary association; greater interest was placed on studies published after 2000. Retrieved articles reported similarities or discrepancies in the HPV-DNA test in pregnant women compared to those who are not pregnant, its accuracy, and its integration in cervical cancer screening. The HPV-DNA test may constitute a helpful tool utilized for monitoring, risk stratification, and triage of cases that require colposcopy. If combined with the HPV-mRNA test, this might improve its specificity. However, when compared to HPV-DNA detection rates in non-pregnant women, the results were ambiguous, without giving the opportunity to draw safe conclusions. Both those findings and the high cost hold it back from wide use. Hence, the Papanicolaou smear (Pap smear) is still the first-line diagnostic tool and colposcopy-guided cervical biopsy is the “gold standard” method for the management of cervical intraepithelial neoplasia (CIN) treatment during pregnancy.

Intestinal atresia is the result of fetal bowel maldevelopment which leads to congenital bowel obstruction. It is a common cause of ileus of the newborn and can occur at any site of the gastrointestinal tract. Prenatal diagnosis relies on the demonstration of dilated loops of the fetal bowel and the presence of polyhydramnios at the end of the second or more frequently the third trimester of pregnancy. This condition requires surgical correction soon after birth, with timely diagnosis improving the prognosis. Here, we present the case of a fetus diagnosed with jejunal atresia at 33 weeks of pregnancy.

Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported the feasibility of earlier prenatal diagnosis by celocentesis in four cases of cystic fibrosis and one case of cystic fibrosis and β-thalassemia co-inherited in the same fetus. Celomic fluids were aspired from the celomic cavity between 8⁺² and 9⁺³ weeks of gestation and fetal cells were picked up by micromanipulator. Maternal DNA contamination was tested and target regions of fetal DNA containing parental pathogenetic variants of CFTR and HBB genes were amplified and sequenced. Four of the five fetuses resulted as being affected by cystic fibrosis and, in all cases, the women decided to interrupt the pregnancy. In the other case, the fetus presented a healthy carrier of cystic fibrosis. The results were confirmed in three cases on placental tissue. In one case, no abortive tissue was obtained. In the last case, the woman refused the prenatal diagnosis to confirm the celocentesis data; the pregnancy is ongoing without complications. This procedure provides prenatal diagnosis of monogenic diseases at least four weeks earlier than traditional procedures, reducing the anxiety of patients and providing the option for medical termination of the affected fetus at 8–10 weeks of gestation, which is less traumatic and safer than surgical termination in the second trimester.