Accuracy of trisomy 18 screening using the second-trimester triple test

2003 ◽  
Vol 23 (6) ◽  
pp. 443-446 ◽  
Author(s):  
Chris Meier ◽  
Tianhua Huang ◽  
Philip R. Wyatt ◽  
Anne M. Summers
Keyword(s):  
Trisomy 18 ◽  
Second Trimester ◽  
Triple Test

Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18

1999 ◽  
Vol 19 (5) ◽  
pp. 476-479 ◽  
Author(s):  
G. M. Lambert-Messerlian ◽  
D. N. Saller ◽  
M. B. Tumber ◽  
C. A. French ◽  
C. J. Peterson ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Progesterone

Ultrasonographic detection of the second-trimester fetus with trisomy 18 and trisomy 21

1990 ◽  
Vol 163 (4) ◽  
pp. 1186-1190 ◽  
Author(s):  
Norman Ginsberg ◽  
Alan Cadkin ◽  
Eugene Pergament ◽  
Yury Verlinsky
Keyword(s):  
Trisomy 21 ◽  
Trisomy 18 ◽  
Second Trimester

Prenatal screening for trisomy 18 in the second trimester

1990 ◽  
Vol 10 (8) ◽  
pp. 546-548 ◽  
Author(s):  
J. A. Canick ◽  
G. E. Palomaki ◽  
R. Osathanondh
Keyword(s):  
Prenatal Screening ◽  
Trisomy 18 ◽  
Second Trimester

Early Second-Trimester Individualized Estimation of Trisomy 18 Risk by Ultrasound

2003 ◽  
Vol 101 (3) ◽  
pp. 463-468
Author(s):  
Ray O. Bahado-Singh ◽  
Sang-Joon Choi ◽  
Utku Oz ◽  
Inanc Mendilcioglu ◽  
Minu Rowther ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Second Trimester

scholarly journals A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

2020 ◽  
Author(s):  
Stefania Triunfo ◽  
Marta Bonollo ◽  
Priska Gaffuri ◽  
Manuela Viviano ◽  
Daniele Satta ◽  
...  
Keyword(s):  
Maternal Age ◽  
Extra Chromosome ◽  
First Trimester ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Comfort Care ◽  
Autopsy Findings ◽  
Balanced Approach ◽  
Edwards Syndrome ◽  
The Impact

Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.

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