For visually impaired or blind patients, the experience of pregnancy sets them apart from nondisabled people for whom viewing first ultrasound has become a social and emotional milestone. We proposed use 3D-printed models to allow societal inclusion expectant parents. Visually parents were touch 3D printed sensory vector their prenatal classic ultrasonography. After assessment was performed, se...

Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramni...

Widespread use of ultrasonography has resulted in an increase in the recognition of fetal hydronephrosis. The enthusiasm that accompanied early interventions has been tempered by the experience and results obtained over the past 2 decades. The goal has remained the same: to identify patients with serious prenatal obstruction and to identify those which may benefit from intervention. Myelomening...

OBJECTIVE A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosom...

Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be in...

Noninvasive prenatal testing and fetal sonographic screening roundtable discussion Lee W, Yagel S, Cohen, SM, Benacerraf BR, Cuckle H, Kagan KO, Van den Veyver I, Wapner R. J Ultrasound Med 2015; 34 (3): 363–69. Seven leading clinicians from Israel, USA, England and Germany were sent 10 questions about non-invasive prenatal testing (NIPT) and their responses were summarised. As might be expecte...

INTRODUCTION Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. CASE PRESENTATION The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and 6 days ...

The chief obstetrical problems encountered today in the prenatal evaluation of the high-risk fetus are presented. Advantages and pitfalls or recent techniques utilized in the management of the high-risk pregnancy are discussed. They include: a prenatal scoring system for identifying the high-risk population; examination of the karyotype of cells in amniotic fluid, and quantitation of alpha-feto...

Cloacal dysgenesis sequence (CDS) is a lethal and rare congenital malformation; usually requiring termination of gestation. As prenatal ultrasonography remains a method with doubtable results, we used Fetal Magnetic Resonance Urography (FMRU) for the evaluation of a fetus at 18 weeks of gestation, suspected to cloacal anomalies. Prenatal imaging of the patient; showed smooth perineum, bilateral...

Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates...