Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Autosomal aneuploidies associate with multiple minor skeletal defects, which, in fetuses, are best appreciated post-mortem after specific anatomic preparations. The present study was aimed to define patterns of skeletal anomalies in autosomal aneuploidies at standard radiology in second trimester fetuses by comparing findings in and among genotypes and gestational ages. Aneuploid fetuses were selected for availability of radiographs of various axial and non-axial structures, mainly homeotic transformations, vertebral clefts, vertebral segmentation and ossification defects, absent/hypoplastic nasal bone, premature talar calcifications, and selected appendicular anomalies. Eighty six fetuses with trisomy 21, 39 with trisomy 18, eight with trisomy 13, six with triploidy, and six with rare autosomal aneuploidies were identified, 75.2% showing an abnormal costo-vertebral pattern, mostly cervical ribs, absence of the 12th thoracic ribs and posterior homeotic change. Clefting was observed along the entire spine, especially sagittal lumbar clefts, and coronal thoracic clefts. Four different types of vertebral clefting were identified, including type 1 (butterfly), type 2 (incomplete inferior), type 3 (incomplete superior), and type 4 (complete). Attenuation of clefting by gestational age was observed in trisomy 21 and 18. These findings define more clearly the pattern of perturbed morphogenesis in aneuploidy as a type of amplified developmental instability with pleiotropic effects on skeletogenesis.

Antenatal ultrasonographic features associated with segmental small bowel dilatation: an unusual neonatal condition mimicking congenital small bowel obstruction.

Segmental dilatation of the intestine (SDI) is an unusual condition presenting during the neonatal period, with symptoms of obstruction. Late diagnosed cases are also reported. The clinical polymorphism, and the lack of specificity of radiological investigations, make diagnosis difficult. Prenatal detection of abdominal cystic lesions or bowel dilatation has occasionally been reported to be associated with SDI. We herein report two cases of SDI, with a prenatal ultrasonographic suspicion of intestinal abnormality. In both infants, a dilatation of the ileum was found at surgery, without any evident site of obstruction or abnormal histology. SDI must be taken into consideration when a prenatal alert of possible bowel obstruction is not followed by postnatal clinical signs.

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

BACKGROUND: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age CASE PRESENTATION: We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively CONCLUSION: The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia-absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting.

The fate of prenatally diagnosed primary nonrefluxing megaureter: do we have reliable predictors for spontaneous resolution?

OBJECTIVES: To compare predictive values of current morphologic parameters with congenital renal damage associated with severe megaureter. METHODS: A retrospective analysis was performed using records of 37 patients (50 megaureters) referred before birth for a primary megaureter. Mean follow-up was 26 months (range, 1 to 8 years). RESULTS: Dilatation resolved spontaneously in 46 of 50 ureters. Only 4 of 37 patients required surgery (10.8%) after a mean follow-up of 58 months (range, 32 to 80 months). Average time to resolution was 24 months (range, 1 to 82 months) and was independent from sex, side, and bilaterality. A weak correlation was found with initial anteroposterior pelvic diameter, ureteral diameter, and separate function at renogram. A significant correlation (P <0.02) was found between megaureter type and time elapsed to spontaneous resolution. As far as differential function was concerned, mean values were significantly lower among type III megaureters, which had the lowest rate of resolution. CONCLUSIONS: The fate of severe megaureter seems strongly influenced by congenital renal damage secondary to a developmental abnormality of the ureteric bud. A poor resolution rate has to be expected in these cases; surgery must be reserved for symptomatic cases but has no influence on pre-existing renal damage.