OBJECTIVE: To evaluate the efficacy of a Down syndrome screening protocol that combines
second-trimester maternal serum analytes and the continuous ultrasound measures of …

To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously
with karyotyping or QF-PCR. Although several studies have investigated the performance of …

Down syndrome (trisomy 21) is the most common chromosomal abnormality among liveborn
infants in the United States, with an incidence of 1/700 to 1/1000 births. Its incidence rises …

In the past two decades second-trimester maternal serum screening for Down syndrome has
been the most common strategy for prenatal diagnosis of chromosomal aneuploidies. More …

The study of human genetics began more than 40 years ago with the discovery that human
somatic cells contained 46 chromosomes. Between 1956 and 1959, the genetic basis for …

Targeted ultrasonographic screening for nuchal fluid accumulation during the first trimester
(9–13 weeks) seems to be a recommendable method for the detection of Down's syndrome …

To standardize femur measurement for the identification of fetuses at risk for Down
syndrome, sonographers of varying professional experience and background measured the …

Objective: To compare color Doppler ultrasound with realtime ultrasound to determine
whether it increased the identification of fetuses with trisomy 21. Methods: Consecutive …

It has been established that 60% of infants with Down's syndrome have hypoplasia of the
middle phalanx of the fifth digit. To determine whether this would be a useful prenatal …

An attempt has been made to establish a more effective cut‐off criterion for nuchal thickness
(NT) and to assess the optimal gestational period for the prediction of trisomies 21 and 18 …