Fetal facial sonographic markers for second trimester Down syndrome screening in a Thai population.
Summary of "Fetal facial sonographic markers for second trimester Down syndrome screening in a Thai population."
To assess the efficacy of using facial sonographic markers for screening fetuses in the second trimester for Down syndrome (DS) in a high-risk Thai population.
Frontomaxillary facial angle (FMF) and nasal bone length (NBL) were measured prospectively in pregnant women at high-risk for DS who were undergoing genetic amniocentesis from November 2008 to October 2009. The receiver operator characteristic (ROC) curves were constructed to assess the screening efficacy of FMF angle and NBL.
A total of 460 pregnant women were recruited, and a mid-sagittal facial profile was obtained for 403 fetuses. There were 386 fetuses with normal chromosomes, 10 fetuses with DS, 1 fetus with trisomy 13, and 1 fetus with trisomy 18. The remaining 5 fetuses had balanced translocation (n=2), deletion (n=1), and mosaic Turner (n=2). Two different combinations of FMF angle and biparietal diameter to nasal bone length (
NBL) ratio for DS screening in the second trimester achieved 50% and 90% detection rates and 4.4% and 14.0% false positive rates, respectively.
The combination of FMF angle and
NBL ratio has a high sensitivity and specificity for screening for DS in the second trimester in a high-risk Thai population.
This article was published in the following journal.
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20678767
- DOI: http://dx.doi.org/10.1016/j.ijgo.2010.06.005
The first trimester screening programme offers a noninvasive option for the early detection of aneuploidy pregnancies. This screening is done by a combination of two biochemical markers i.e. serum fre...
Ultrasonography for the screening of Down syndrome (DS) was first introduced about 25 years ago. Different combinations of markers detectable at second trimester ultrasonography have been proposed und...
Utilizing epigenetic (DNA methylation) differences to differentiate between maternal peripheral blood (PBL) and fetal (placental) DNA has been a promising strategy for noninvasive prenatal testing (NI...
We describe a case of Alagille syndrome diagnosed by second-trimester ultrasound. Features included the characteristic prominent chin, single umbilical artery, and hemivertebrae. Three-dimensional ima...
We herein sonographically document a new type of fetal head malposition in labor which has never been clinically described. In some circumstances, the fetal lie is characterised by a lateral twisting...
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate ma...
The aim is to test effects of using formal kick counting chart in the third trimester of pregnancy in an unselected population. The research questions are: Does Fetal Movement Counting:...
310 singleton pregnancies (22-35 weeks) enrolled into the study. We assessed sonographically the fetal larynx in an axial plane through the mandible and observed the fetal deglutition move...
The aim of the study is to evaluate the risk of Down syndrome during the first trimester of the pregnancy. The risk assessment is evaluated using early ultrasound and maternal biochemical...
Assessment of biochemical and sonographic marker to predict the risk for developing preeclampsia Among biochemical markers are serum level of Placental Protein 13 (PP13) and Placenta Growt...
Medical and Biotech [MESH] Definitions
A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters.