OBJECTIVE Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT) in the general pregnancy population. METHODS Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA) analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, tri...

Prenatal ultrasound screening has allowed for the detection of in utero cardiac abnormalities. Specifically, distinction is possible between ventricular diverticula and aneurysms, which is important because each condition has a different clinical outcome. We report the case of a 35-year-old, gravida 1, para 1 woman, with no significant past medical history, who underwent routine prenatal ultras...

OBJECTIVES To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. DESIGN AND SETTING Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was...

At the turn of the century, several Western countries introduced prenatal screening for Down syndrome. Technology became widely and easily available, and the combination of ultrasound and then blood tests made it possible to screen the entire pregnant population. For the first time in history, there was a chance of detecting, and eventually aborting, most instances of Down syndrome, and at rela...

OBJECTIVE The purpose of this study was to evaluate the prevalence of Chlamydia trachomatis in our rural obstetric population and assess the appropriateness of selective vs. universal prenatal screening. METHODS Between April 1, 1991 and May 1, 1993, 1,587 patients were screened at their first prenatal visit using a C. trachomatis antigen test. Patients who were unmarried, younger than 20 yea...

Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregna...

BACKGROUND AND OBJECTIVES In 2011, the US Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHDs), yet few estimates of the number of infants with CCHDs likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHDs in the United States likely to be dete...

The objective of this review is to assess the evidence which supports the use of non-invasive prenatal diagnosis (NIPD) in twin pregnancies. Through the years, we have witnessed the technological developments in non-invasive prenatal diagnosis attained new heights, but those studies were usually limited in singleton pregnancies. As we known, twin pregnancies are at higher risk in both aneuploid...