scholarly journals Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester

2012 ◽  
Vol 51 (1) ◽  
pp. 129-133 ◽  
Author(s):  
Chih-Ping Chen ◽  
Tsang-Ming Ko ◽  
Yi-Ning Su ◽  
Chin-Yuan Hsu ◽  
Yi-Yung Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Partial Trisomy ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Serum Biochemistry ◽  
Maternal Serum ◽  
Partial Monosomy ◽  
Increased Nuchal Translucency

scholarly journals Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

2009 ◽  
Vol 3 (2) ◽  
pp. 10-17 ◽  
Author(s):  
Mónica Echevarria ◽  
Carmen Comas ◽  
M Angeles Rodríguez ◽  
Joan Nicolau ◽  
Bernat Serra ◽  
...  
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Serum Biochemistry ◽  
Screening Strategy ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Early Evaluation ◽  
Invasive Test ◽  
Screening Efficiency

ABSTRACT Objective To estimate the improvement in screening efficiency when ductus venosus (DV) Doppler studies are added to existing Down syndrome (DS) screening protocols. Methods First-trimester combined screening for trisomy 21 was prospectively carried out, from October 2003 to March 2008, in 8842 consecutive singleton pregnancies attended in our tertiary reference center. The nuchal translucency (NT) and the pulsatility index for veins for DV were calculated. The maternal serum biochemistry was measured using the Kryptor analyzer, at the same time of the scan (one step strategy) or before it (two step strategy). The detection rate (DR) and false-positive rates for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated. Results Successful DV assessment was possible in the 95.3% of cases, representing a total of 8426 cases. Down syndrome was identified in 34 pregnancies (prevalence of DS 1:250). For a fixed screen positive rate of 5%, the addition of the DV assessment improves the DR from 85 to 94% and, for a fixed DR of 85%, it reduces the number of unnecessary invasive tests from 3.7 to 3.2%. Conclusion Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level test to reduce invasive test rate derived from the existing protocols.

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