3q26.31–q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: Prenatal diagnosis and aCGH characterization

Gene ◽  
2013 ◽  
Vol 532 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chen-Ju Lin ◽  
Yi-Yung Chen ◽  
Liang-Kai Wang ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ventricular Septal Defect ◽  
Septal Defect ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Increased Nuchal Translucency

Prenatal Screening for Down Syndrome in Australia

Ultrasound ◽  
2009 ◽  
Vol 17 (3) ◽  
pp. 167-171
Author(s):  
Debbie L Nisbet ◽  
Andrew McLennan
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Screening Tests ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Maternal Preference

Prenatal screening for Down syndrome should be offered to all pregnant women. The screening option chosen will be influenced by maternal preference, local availability of tests, and the gestation at which the pregnant woman presents. Screening tests take into account the effect of maternal age on Down syndrome risk. The combined first trimester screen using nuchal translucency and first trimester maternal serum screening can achieve a detection rate for Down syndrome of 90% with a 5% false positive rate, when performed by appropriately trained individuals. Midtrimester maternal serum screening is a good screening option for women unable to undergo the combined first trimester screen.

Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome

2002 ◽  
Vol 22 (8) ◽  
pp. 730-735 ◽  
Author(s):  
Yung Hang Lam ◽  
Chin Peng Lee ◽  
Sai Yuen Sin ◽  
Rebecca Tang ◽  
Hong Soo Wong ◽  
...  
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Second Trimester ◽  
Maternal Serum Screening ◽  
Serum Screening

Screening for Down syndrome in the first trimester

1995 ◽  
Vol 7 (6) ◽  
pp. 1413 ◽  
Author(s):  
KJ Powell ◽  
JG Grudzinskas
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Published Data ◽  
Maternal Serum Screening ◽  
Ultrasound Findings ◽  
Serum Screening ◽  
Associated Proteins ◽  
Trimester Screening

Second-trimester maternal serum screening for Down syndrome is now well established, and permits detection of up to 70% of cases. The disadvantage of this sort of screening is that the timing of maternal blood sampling is relatively late (after 15 weeks). There is an accumulating body of evidence to suggest that in the first trimester concentrations of a number of pregnancy-associated proteins and hormones differ in chromosomally normal and abnormal pregnancies. A first-trimester maternal serum screening test for Down syndrome may therefore be possible. In addition, new methods of screening have recently been described based on ultrasound findings at 11 to 13 weeks of gestation. This review article presents a discussion of published data on the feasibility of first-trimester screening for Down syndrome.

scholarly journals Increased Nuchal Translucency and Ventricular Septal Defect in the Fetus

Circulation ◽  
1999 ◽  
Vol 99 (19) ◽  
Author(s):  
J. S. Carvalho ◽  
Marie-Victoire Senat ◽  
Peter Schwarzler ◽  
Yves Ville
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency
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