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OBJECTIVE To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing. METHODS Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe(More)
Automatic aircraft recognition is a challenging task. Conventional methods always extract the overall shapes of aircraft at first and then represent the aircraft based on the extracted shape with different features for recognition. The major problem of these methods is that they have a high requirement on shape extraction, which is too idealistic for(More)
BACKGROUND Rapid aneuploidy detection (RAD) methods constitute important complements to karyotyping in prenatal diagnosis. We evaluated the effectiveness of a method called high-resolution melting analysis of segmental duplications (SD-HRM) to serve as an alternative RAD method in prenatal diagnosis of common numerical chromosomal abnormalities (NCAs). (More)
OBJECTIVE The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies. METHOD A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven(More)
OBJECTIVE To describe our 2 year experience in diagnosing prenatal-onset osteogenesis imperfecta (OI) by multidisciplinary assessment. METHODS We retrospectively analyzed 10 cases of fetal OI by using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL1A1/2. RESULTS By postnatal radiographic(More)
The objective of this study was to investigate, retrospectively, the frequencies of fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at the Xiamen Maternity and Child Health Care Hospital over the 5-year period from October 2005 to September 2010. The frequency of abnormal fetal karyotypes was 4.6%. Numerical chromosome(More)
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