BACKGROUND Prenatal diagnosis involves methods used in early pregnancy as either screening tests or diagnostic methods. The aims of the study were to i) investigate guidelines on prenatal diagnosis in the counties of Sweden, ii) investigate uptake of prenatal diagnosis, and iii) background characteristics and pregnancy outcomes in relation to different prenatal diagnostic methods. METHODS A r...

OBJECTIVE This prospective study was designed to detect the role of magnetic resonance imaging (MRI) in refining the diagnosis of suspected fetal renal anomalies detected during screening sonography. MATERIAL AND METHODS 54 pregnant women, with suspected fetal renal anomalies detected during routine ultrasound screening, were rescanned by MRI to refine the diagnosis of the suspected renal ano...

OBJECTIVES Through comprehensive ophthalmic examination of adult offspring we sought to determine the impact of multiple prenatal ultrasound scans on ocular development. METHODS 2743 pregnant women recruited to the Western Australian Pregnancy (Raine) Cohort study during 1989-1991 were randomized to receive at King Edward Memorial Hospital, Western Australia either multiple prenatal ultrasoun...

The low prevalence of fetal central nervous system anomalies results in a restricted level of exposure and limited experience-- for most of the obstetricians involved in prenatal ultrasound. Sonographic guidelines for screening the fetal brain in a systematic way will probably increase the detection rate and enhance a correct referral to a tertiary care center, offering the patient a multidisci...

Ultrasound (US) imaging is due to its real-time character, low cost, noninvasive nature, high availability, and many other factors, considered a standard diagnostic procedure during pregnancy. The quality of diagnostics depends on many factors, including scanning protocol, data characteristics and visualization algorithms. In this work, several problems of ultrasound data visualization for obst...

CONTEXT Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multipl...

Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability to provide a precise diagnosis precludes proper reproductive and fetal risk assessment. We report...

The emergence of effective cell-free fetal DNA-based techniques to screen for trisomy 21 and other aneuploidies has greatly expanded the range of prenatal tests available over the last few years. Non-invasive prenatal testing (NIPT) is rapidly being incorporated into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although NIPT techniques are ...

BACKGROUND Bilateral pulmonary agenesis is a rare congenital anomaly incompatible with life that can be missed on routine prenatal screening. Prenatal ultrasound diagnosis of this fatal anomaly can aid in prenatal counseling and postdelivery care. CASE STUDY We report the case of a newborn who was born prematurely at 29 weeks gestation and underwent several unsuccessful intubation attempts im...

OBJECTIVE Cervical teratomas represent approximately 3% of all congenital teratomas, which occur in approximately 1 in 20,000-40,000 live births. In this report, we present a case of congenital posterior cervical teratoma diagnosed by a two-dimensional (2D) ultrasound in the early second trimester. CASE REPORT A 28-year-old woman, gravid 1, para 0, came to our prenatal clinic at 20 weeks of g...