Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achie...

Epidermoid cysts are benign developmental anomalies that are rarely observed in the oral cavity of neonate. If large in size, especially in the developing fetus or newborn infant, they can cause swallowing difficulty and occasionally respiratory difficulty. We report a case of epidermoid cyst in the oral cavity detected prenatal sonography. The sonographic finding was large cystic mass, measuri...

the arnold-chiari malformation is a congenital abnormality of cns, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. this malformation is one of causative factor of death in neonates and infants. a thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of chiari ii ma...

Introduction and Objectives The standardization of fetal sonography has enabled early detection genitourinary anomalies referral for prenatal counseling with pediatric urologists. Prenatal urologic consultation can determine the need antenatal postnatal intervention, assuage parental anxiety, establish continuity care. COVID-19 pandemic led to a significant increase in virtual visits (VVs). Our...

Quantitation of fetal parameters by prenatal sonography enables the assessment of menstrual age and fetal development. Appropriate fetal growth can be surmised on the basis of sequential measurements, as well as the relative variation of parameters such as biparietal diameter (BPD), femur diaphysis length (FDL), abdominal circumference (AC 1, and head circumference (HC). Accurate determination ...

OBJECTIVE The purpose of this series is to describe the prenatal diagnosis and pregnancy outcome of fetuses affected with Dandy-Walker malformation in which a posterior cyst herniated through a bony defect of the occipital skull, foramen magnum, or both. METHODS Two- and 3-dimensional sonography were used to examine 2 fetuses with poorly delineated cerebellar structures and a large posterior ...

AIM To produce a new scoring system for fetal neurobehavior based on prenatal assessment by 3D/4D sonography. We identified severely brain damaged infants and those with optimal neurological findings and compared fetal with neonatal findings. RESULTS The new scoring system was retrospectively applied in a group of 100 low-risk pregnancies. After delivery, postnatal neurological assessment was...

OBJECTIVE To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyoty...

audal regression syndrome (CRS) represents a continuum of congenital anomalies that may include incomplete development of the sacrum and, to a lesser extent, the lumbar vertebrae, disruption of the distal spinal cord, and extreme lack of growth of the caudal region.1 First-trimester prenatal diagnosis of CRS is challenging because of incomplete ossification of the sacrum at that time.2 Most cas...

SUMMARY Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the s...