Search results for "Prenatal diagnosi"
showing 3 items of 113 documents
Ovarian cysts in newborns.
2001
Before the introduction of ultrasonography (US), ovarian cysts in newborns were thought to be rare. With the extended use of real-time US, prenatal detection has increased. There is still considerable controversy regarding the best treatment of these neonatal findings. A total of 27 instances in 24 consecutive newborns of antenatally-diagnosed ovarian cysts were reviewed for US data, management, and outcome to assess the ante- and postnatal evolution of the cyst and establish appropriate therapy. The cysts detected during pregnancy were studied by repeated postnatal US studies. In 10 children (2 with bilateral cysts) the cyst evolved spontaneously toward regression. Fourteen patients were o…
An unusual association of left‐sided gastroschisis and persistent right umbilical vein
2018
Key Clinical Message Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team.
Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal R…
2022
Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes …