ABSTRACT
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis.
Subject(s)
Aneuploidy , Arm , Chromosome Aberrations , Chromosomes, Human, Pair 12 , Diagnosis , Femur , Hernia, Diaphragmatic , Isochromosomes , Karyotyping , Lymphocytes , Maternal Age , Mosaicism , Polyhydramnios , Tetrasomy , UltrasonographyABSTRACT
Osteogenesis imperfecta is a heterogeneous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera, impaired hearing, defective dentition, and hyperlaxibility of the joints. The overall incidence of osteogenesis imperfecta is estimated at 1/25,000. We recently experienced a case of osteogenesis imperfecta type II diagnosed in uterus by ultrasonogram and confirmed after termination of pregnancy and autopsy. We report a case here with a brief review of the literature.
Subject(s)
Pregnancy , Autopsy , Connective Tissue , Dentition , Diagnosis , Hearing , Incidence , Joints , Osteogenesis Imperfecta , Osteogenesis , Sclera , Ultrasonography , UterusABSTRACT
The prenatal diagnosis of spina bifida includes the combined use of maternal serum alpha-fetoprotein (MSAFP) screening and fetal sonography. On ultrasonogram, spina bifida is characterizd by visualization of the spinal defect and associated cranial abnomalities: the Lemon sign, the Banana sign, ventriculomegaly, small biparietal diameter, and obliteration of the cisterna magna. We should now be able to rely on ultrasound as the main technique for diagnosis of spina bifida when MSAFP is elevated. Recently, we have experienced three cases of spina bifida diagnosed with meningomyelocele, lemon sign, banana sign and ventriculomegaly on ultrasonogram at respectively 18+3, 18, and 18+6 weeks of gestation. We present these cases with a brief review of literatures.