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Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage-sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid-trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.

Liver herniation commonly associated with omphalocele occurs in only approximately 2.3% to 16% of fetuses with gastroschisis. Liver herniation in such cases is associated with considerably decreased survival rates (43% vs 97% with or without liver herniation, respectively). Rarely, abnormally positioned fetal hepatic vasculature has been reported mainly in association with congenital diaphragmatic hernia. In these rare cases, intrathoracic depiction of hepatic venous vasculature has assisted in confirming intrathoracic displacement of the fetal liver. We present a case of a large gastroschisis with complete herniation of the fetal liver in which prenatal sonography depicted an extracorporeal ductus venosus.

We describe unusual mid-trimester sonography of subtle fetal facial dysmorphic features including; flattened nasofrontal angle with an almost vertically positioned nasal bone, acute nasolabial angle, and convexity of the maxillary areas in a fetus with otherwise normal anatomy. Microarray identified a 64.5 KB interstitial deletion of 2q25.3, which includes one exon of MYT1L. Mutations and deletions in MTY1L have been associated with autosomal dominant intellectual disability, autistic features, and obesity. Association of these features and 2p25.3 microdeletion has not been reported previously. This case emphasizes the importance of detailed microarray analysis following the sonographic recognition of subtle fetal dysmorphic features.

Placental abruption occurs clinically in approximately 1% of births although placental pathology assessment suggests a higher incidence. Ultrasound rarely plays a role in the diagnosis or clinical management of patients with suspected placental abruption. A patient with an incidental sonographic finding of a large concealed abruption at 36 weeks' gestation, led to induction of labor. This case and the established association of increased stillbirth with placental abruption among patients of advanced maternal age, suggest that at term, following sonographic findings of abruption, consideration should be given to elective delivery of these patients even in the absence of clinical symptomatology.

First-trimester screening for fetal aneuploidy using nuchal translucency (NT), pregnancy-associated plasma protein A, free or total β-hCG, and maternal age constitutes a very effective screening test for fetal Down syndrome. We describe a case in which a patient presented at 14 weeks' gestation with an acute abdomen 1 week after first-trimester screening (including NT measurement) performed elsewhere, which was negative for trisomies 21 and 18. Sonographic examination revealed an interstitial pregnancy with a singleton fetus with present cardiac activity, which had not been noted 1 week earlier at the time of earlier transabdominal NT measurement. This case indicates that successful acquisition of a NT measurement during first-trimester screening for fetal aneuploidy does not negate the rare possibility of an unusual ectopic pregnancy. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2009

We present an unusual case in which, following indeterminate findings on transabdominal sonographic assessment, transvaginal sonography clearly depicted an aborting pedunculated intracavitary leiomyoma within the uterine cervix. The lesion measured 4x4 cm and exhibited central cystic degenerative changes.

Acute hematometra, also termed the postabortal syndrome or redo syndrome, is a rare immediate complication of suction curettage characterized by severe lower abdominal cramping in association with an enlarged and markedly tender uterus. We describe the transvaginal sonographic features of this syndrome. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011