Surveillance guidelines for children with trisomy 18

2021 ◽  
Author(s):  
Jeffrey W. Kepple ◽  
Kristen P. Fishler ◽  
Eric S. Peeples
Keyword(s):  
Trisomy 18

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

scholarly journals A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

2021 ◽  
Vol 11 (01) ◽  
pp. e41-e44
Author(s):  
Ravindran Ankathil ◽  
Foong Eva ◽  
Zulaikha Abu Bakar ◽  
Nazihah Mohd Yunus ◽  
Nurul Alia Nawi ◽  
...  
Keyword(s):  
Birth Weight ◽  
Blood Sample ◽  
Cell Line ◽  
Apgar Score ◽  
Cytogenetic Analysis ◽  
Rare Case ◽  
Trisomy 18 ◽  
Normal Female ◽  
Conventional Cytogenetic Analysis ◽  
Edwards Syndrome

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

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

Umbilical cord pseudocyst in trisomy 18

1988 ◽  
Vol 8 (8) ◽  
pp. 557-563 ◽  
Author(s):  
Eric Jauniaux ◽  
Catherine Donner ◽  
Christine Thomas ◽  
Jacques Francotte ◽  
Frédéric Rodesch ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Trisomy 18

Three- and 4-Dimensional Ultrasonography in the Prenatal Evaluation of Fetal Anomalies Associated With Trisomy 18

2008 ◽  
Vol 27 (7) ◽  
pp. 1041-1051 ◽  
Author(s):  
Yu Zheng ◽  
Xiao-Dong Zhou ◽  
Ya-Li Zhu ◽  
Xi-Lin Wang ◽  
Yun-Qiu Qian ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Fetal Anomalies

P120Prenatal demonstration of polyvalvular disease in a fetus with trisomy 18

2000 ◽  
Vol 16 ◽  
pp. 92-93 ◽  
Author(s):  
U. Gembruch ◽  
U. Germer ◽  
S. Denzel ◽  
K. Gloeckner-Hofmann
Keyword(s):  
Trisomy 18

Trisomy 18 Pregnancies: Is there an Increased Maternal Risk?

2017 ◽  
Vol 34 (11) ◽  
pp. 1054-1057
Author(s):  
Kayli Senz ◽  
Whitney Humphrey ◽  
Vanessa Lee ◽  
Aaron Caughey ◽  
Sarah Dotters-Katz
Keyword(s):  
International Classification Of Diseases ◽  
Vital Statistics ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Obstetric Outcomes ◽  
Maternal Risk ◽  
Increased Risk ◽  
Multiparous Women ◽  
Classification Of Diseases ◽  
The Impact

Objective Characterize the impact of a trisomy 18 (T18) fetus on maternal and obstetric outcomes in a cohort including T18-affected deliveries. Study Design Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using linked vital statistics and the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) data to compare deliveries affected by T18 to those without known aneuploidy. Outcomes of interest included gestational diabetes mellitus (GDM), preterm delivery (PTD), preeclampsia, cesarean delivery (CD), and intrauterine fetal demise (IUFD). The χ2 and paired t-tests were used to compare the outcomes. Multiple logistic regression was used to further characterize these risks and control potential confounders. Results Of 2,029,000 deliveries, 298 involved T18. Compared with unaffected deliveries, T18 was associated with GDM (10.7 vs. 6.5%, p = 0.003), PTD < 37 (40.6 vs. 9.9%, p < 0.001) and < 32 weeks (14.8 vs. 1.4%, p < 0.001), and cesarean section (56 vs. 30.2%, p < 0.001), but not preeclampsia. In adjusted analyses, T18 pregnancies were associated with an increased risk of PTD < 37 and < 32 weeks (adjusted odds ratio [AOR]: 5.48, 95% confidence interval [CI]: 4.29, 6.99; AOR: 10.4, 95% CI: 7.26, 14.8), and an increased odd of CD for primiparous and multiparous women (AOR: 2.41, 95% CI: 1.48, 3.91; AOR: 5.42, 95% CI: 3.90, 7.53). Risk of GDM did not persist. Conclusion Unlike trisomy 13 (T13), pregnancies complicated by fetal T18 did not appear to result in an increased risk of preeclampsia. However, there is an increased risk of a range of other obstetric complications.

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