Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...

The performance of prenatal screening tests for the identification of trisomy 21 (Down syndrome) has markedly improved since the 1970s and early 1980s when maternal age was the sole mode of screening the general pregnant population. With the discovery of second trimester serum markers in the 1980s and 1990s and implementation of double, triple, and quad marker testing; the discovery of first tr...

Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing ...

Health care providers face many challenges when providing prenatal care. This article reports on a program called Prenatal Care: the Beginning of a Lifetime (PCBL), to implement standardized prenatal care in central North Carolina. The purpose of this pilot study was to determine if there were differences in patient outcomes between a control group and 3 groups (A, B, and C) of increasing level...

BACKGROUND The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS Pregnant women of Dutch, Turkish and Surinamese origin were recruited between 2006 and 2008 from community midwifery or obstetrical practices in The Netherlands. Each woman...

OBJECTIVE To explore the ideas, opinions, feelings, and experiences of women regarding prenatal genetic screening, specifically maternal serum screening (MSS). DESIGN Qualitative technique of focus groups. SETTING Northern, rural, inner-city, urban, and suburban communities in Ontario. PARTICIPANTS Women who had given birth to babies from January 1994 to May 1996, but who were not current...

Prenatal screening, consisting of maternal serum screening and nuchal translucency screening, is on the verge of expansion, both by being offered to more pregnant women and by screening for more conditions. The Society of Obstetricians and Gynaecologists of Canada and the American College of Obstetricians and Gynecologists have each recently recommended that screening be extended to all pregnan...

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 ...

OBJECTIVE To 'map' the current (2004) state of prenatal screening in Europe. DESIGN (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. SETTING Europe. POPULATION Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS...