Objective Noonan syndrome (NS) is a common, autosomal dominant, frequently de novo condition due to mutations in RAS-MAPK pathway genes. Presentation is variable, usually in infancy or early childhood, and includes poor postnatal growth, cardiac abnormalities, dysmorphic features and lymphatic dysplasia. The classic cardiac abnormalities are pulmonary valve dysplasia and hypertrophic cardiomyop...

In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. Howe...

OBJECTIVE To estimate the incidence of septations in fetuses with increased nuchal translucency (NT) thickness, and to investigate the relationship between the length and thickness of the translucency and whether the length or septations provide useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. METHODS We examined 386 fetuses with NT thi...

OBJECTIVE To evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA). METHODS This was a multicenter study of fetuses diagnosed with ARSA that underwent genetic analysis by CMA, all samples being analyzed in the same laboratory. Clinical inve...

OBJECTIVES Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other variables and to clarify their diagnostic value. METHODS...

Objective: To investigate the diagnostic value of standardized ultrasonography during early pregnancy in fetal malformation screening. Methods: From July 2015 to July 2017, 2534 pregnant women enrolled in our hospital to receive fetal malformation screening during early pregnancy were selected as the objects. All pregnant were given standardized ultrasonography at 11~13+6 w of gestation to acqu...