scholarly journals Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results

2020 ◽  
Vol 59 (5) ◽  
pp. 758-762
Author(s):  
Chih-Ping Chen ◽  
Jui-Der Liou ◽  
Kok-Min Seow ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Partial Trisomy ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Partial Monosomy ◽  
Paternal Origin ◽  
Serum Screening ◽  
Increased Nuchal Translucency

Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome

1999 ◽  
Vol 86 (2) ◽  
pp. 175-177 ◽  
Author(s):  
Jen-Huang Chen ◽  
Te-Yao Hsu ◽  
Chia-Yu Ou ◽  
Lih-Feng Chang ◽  
Shiuh-Young Chang ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening

Neural Tube Defects: Maternal Serum Screening and Prenatal Diagnosis

1978 ◽  
Vol 25 (3) ◽  
pp. 619-629 ◽  
Author(s):  
Barbara F. Crandall ◽  
Thomas B. Lebherz ◽  
Raimund Freihube
Keyword(s):  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening

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.

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