BACKGROUND In the United States, Down syndrome screening is still performed mainly in the second trimester, using 3 or 4 markers. Moving screening into the first trimester has the advantage of earlier diagnosis. Currently, first-trimester screening typically includes maternal serum pregnancy-associated plasma protein-A (PAPP-A), the free beta-subunit of human chorionic gonadotropin (free beta),...

National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...

Protein S100 is a low molecular weight (10-12 kD) calcium-binding protein the beta subunit of which is coded for at the 22.2-22.3 region of the long arm of chromosome 21. This region has also been shown to be responsible for the phenotypic expression of Down syndrome. Previous studies demonstrated increased immunoreactivity to protein S100 in brain tissue from adults with Down syndrome. We have...

Note: It should be noted that appropriate training of ultrasonographers with ongoing quality assurance programs are considered critical to the accurate measurement of fetal nuchal translucency. In addition, in published studies of first trimester screening, the laboratory and imaging components of screening (i.e., fetal nuchal translucency and measurement of maternal serum factors) are performe...

OBJECTIVE To investigate the potential value of maternal serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 35-37 weeks' gestation in the prediction of delivery of small-for-gestational-age (SGA) neonates, in the absence of pre-eclampsia (PE). METHODS This was a screening study in singleton pregnancies at 35-37 weeks, including 158 that delivered SGA neona...

INTRODUCTION X-linked adrenal hypoplasia congenita (AHC) is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3) levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fa...

Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenat...

2.4 Invasive Diagnostic Tests .......................... 11 2.4.1 Amniocentesis ............................................. 11 2.4.2 Chorionic Villous Sampling (CVS) ............ 11 2.4.3 Prenatal Maternal Serum Screening ........... 11 2.4.4 Fetal Blood Sampling (FBS)....................... 12 2.4.5 Fetal Surgery ............................................... 12 2.4.6 Genetic Diagnoses .......

The Routine Antenatal Diagnostic Imaging With Ultrasound Study (RADIUS) has reported that the adoption of routine screening in the United States would add considerably to health care costs, but stated that a potential benefit may be identification of fetal anomalies. To determine whether the cost per detected malformed fetus using data from the RADIUS study is cost-effective, a comparison is ma...

BACKGROUND Syphilis is still a public health problem in Latin America and the Caribbean. Therefore maternal screening is of great importance for public health. AIM To estimate the prevalence of maternal syphilis and to evaluate a rapid diagnostic test for the disease among Bolivian women. MATERIAL AND METHODS A total of 489 women delivering in a Public Hospital in Cochabamba, Bolivia, answe...