First-Trimester Placental Morphogenesis as Potential Marker for Early Diagnosis of Chromosomal Abnormalities
Multiple pathologies of the placenta can be identified during the first trimester of pregnancy thanks to the ultrasound diagnostics, and many molecular trophoblasts defects associated with it are still poorly understood. In other words, the 3Dand 4D-ultrasound are still the golden tool in early detection of abnormal fetal development. Using placenta as a marker in diagnosis of chromosomal abnormalities has detection sensitivity of only 3%, and is not syndrome specific, as in the case of Wolf-Hirschhorn syndrome where only few cases of hypotrophic placenta were reported. We describe the case of first-trimester pregnancy with diagnosis of pathologic placental morphology and intrauterine growth restriction of the fetus, with prenatal genetic screening testing which confirmed existence of Wolf-Hirschhorn syndrome. Suspicion for chromosomal abnormalities was raised due to placenta ultrasound examination only and this case report outlines the clinical significance of the placenta as a novel marker for Wolf-Hirschhorn syndrome, since other clinical indications in this case were not present. Keywords— Placenta, Wolf-Hirschhorn Syndrome, 3D-