Differential Effect of Advanced Maternal Age on Prenatal Diagnosis of Trisomies 13, 18 and 21

1999 ◽  
Vol 14 (3) ◽  
pp. 181-184 ◽  
Author(s):  
Arie Drugan ◽  
Yuval Yaron ◽  
Ronit Zamir ◽  
Salah A.D. Ebrahim ◽  
Mark P. Johnson ◽  
...  
2008 ◽  
Vol 41 (5) ◽  
pp. 239-242 ◽  
Author(s):  
Helen Brandenburg ◽  
Coon G. Gho ◽  
Milena G. J. Jahoda ◽  
Theo Stijnen ◽  
Hans Bakker ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Linda Maria Azzurra Pirollo ◽  
Leila Baghernajad Salehi ◽  
Simona Sarta ◽  
Marco Cassone ◽  
Maria Vittoria Capogna ◽  
...  

Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.


1992 ◽  
Vol 47 (11) ◽  
pp. 763
Author(s):  
HELEN BRANDENBURG ◽  
COEN G. GHO ◽  
MILENA G. J. JAHODA ◽  
THEO STIJNEN ◽  
HANS BAKKER ◽  
...  

2010 ◽  
Vol 38 (2) ◽  
Author(s):  
Eran Bornstein ◽  
Erez Lenchner ◽  
Alan Donnenfeld ◽  
Michael Y. Divon

1990 ◽  
Vol 50 (2) ◽  
pp. 309-324 ◽  
Author(s):  
Sandra L. Tunis ◽  
Mitchell S. Golbus ◽  
Karen L. Copeland ◽  
Beth A. Fine ◽  
Barbara J. Rosinsky ◽  
...  

2005 ◽  
Vol 67 (4) ◽  
pp. 303-313 ◽  
Author(s):  
AGW Hunter ◽  
M Cappelli ◽  
L Humphreys ◽  
JE Allanson ◽  
TT Chiu ◽  
...  

1999 ◽  
Vol 7 (1) ◽  
pp. 1-10 ◽  
Author(s):  
Yury Verlinsky ◽  
Anver Kuliev

Preimplantation diagnosis of inherited and chromosomal diseases allows couples at risk of conceiving a genetically abnormal fetus to avoid the birth of an affected child without the need for a prenatal diagnosis and selective abortion of an affected fetus. For some couples this may be the only option, because they cannot accept termination of pregnancy as a measure of avoiding the birth of an affected child. Even for those who accept prenatal diagnosis, repeated termination of pregnancy forces them to look for other options to control the outcome of their pregnancies from the very outset. This may be achieved by genetic analysis of oocytes or cleaving embryos, which opens a new prospect for ‘prepregnancy’ genetic diagnosis. As will be shown, such an approach will also be a useful addition to assisted reproduction technologies, at least for in vitro fertilization (IVF) patients of advanced maternal age.


2015 ◽  
Vol 24 (3) ◽  
pp. 331-337 ◽  
Author(s):  
Lea Godino ◽  
Eva Pompilii ◽  
Federica D'Anna ◽  
Antonio M Morselli-Labate ◽  
Elena Nardi ◽  
...  

1992 ◽  
Vol 12 (12) ◽  
pp. 1031-1035 ◽  
Author(s):  
H. Brandenburg ◽  
W. De Koning ◽  
M. G. J. Jahoda ◽  
Th. Stijnen ◽  
M. A. J. De Ridder ◽  
...  

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