Counseling for Fetal Central Nervous System Defects

2017 ◽  
Vol 4 (2) ◽  
pp. 65-73
Author(s):  
Shagun Aggarwal
Author(s):  
A.Yu. Blinov

A review of literature data on the study of human embryos using new methods of medical imaging is given. The possibility of prenatal diagnosis of severe central nervous system defects has been demonstrated already in the embryonic period at 8–10 weeks of gestation or at the age of 16 to 23 stages of the embryonic development period


2020 ◽  
Vol 14 (5) ◽  
pp. 588-594
Author(s):  
Nathalie Auger ◽  
Justin Côté-Daigneault ◽  
Marianne Bilodeau-Bertrand ◽  
Laura Arbour

Abstract Background and Aims The relationship between inflammatory bowel disease in pregnancy and birth defects is not understood. We evaluated whether Crohn’s disease and ulcerative colitis in pregnant women were associated with the risk of birth defects in the offspring. Methods We undertook a retrospective cohort study of 2 184 888 pregnancies in Quebec, Canada, between 1989 and 2016. We calculated risk ratios [RR] and 95% confidence intervals [CI] for the association between inflammatory bowel disease and the risk of birth defects, using generalised estimating equations adjusted for maternal characteristics. We assessed associations in the period before 2000, when immunosuppressive biologic therapy and folic acid food fortification were not yet available, compared with the period after 2000 when these interventions were more widespread. Results This study included 13 099 women with Crohn’s disease and 7798 with ulcerative colitis. Crohn’s disease was associated with 1.90 times [95% CI 1.10–3.28] the risk of abdominal wall defects [gastroschisis, omphalocoele, and diaphragmatic hernia] and ulcerative colitis was associated with 1.53 times [95% CI 1.02–2.30] the risk of central nervous system defects. The association of Crohn’s disease with abdominal wall defects was stronger before 2000 [RR 3.62, 95% CI 1.71–7.67] than after 2000 [RR 1.23, 95% CI 0.55–2.75]. Ulcerative colitis was associated with central nervous system defects regardless of time period. Conclusions These findings suggest that inflammatory bowel disease is associated with the risk of abdominal wall and central nervous system defects, and that introduction of immunobiologic medications is unlikely to be associated with added risk. Podcast This article has an associated podcast which can be accessed at https://academic.oup.com/ecco-jcc/pages/podcast


2011 ◽  
Vol 30 (7) ◽  
pp. 1003-1008 ◽  
Author(s):  
Giuseppe Rizzo ◽  
Alfred Z. Abuhamad ◽  
Beryl R. Benacerraf ◽  
Rabih Chaoui ◽  
Edgardo Corral ◽  
...  

2021 ◽  
Vol 15 ◽  
Author(s):  
Lukas F. Reissig ◽  
Atieh Seyedian Moghaddam ◽  
Fabrice Prin ◽  
Robert Wilson ◽  
Antonella Galli ◽  
...  

An essential step in researching human central nervous system (CNS) disorders is the search for appropriate mouse models that can be used to investigate both genetic and environmental factors underlying the etiology of such conditions. Identification of murine models relies upon detailed pre- and post-natal phenotyping since profound defects are not only the result of gross malformations but can be the result of small or subtle morphological abnormalities. The difficulties in identifying such defects are compounded by the finding that many mouse lines show quite a variable penetrance of phenotypes. As a result, without analysis of large numbers, such phenotypes are easily missed. Indeed for null mutations, around one-third have proved to be pre- or perinatally lethal, their analysis resting entirely upon phenotyping of accessible embryonic stages.To simplify the identification of potentially useful mouse mutants, we have conducted three-dimensional phenotype analysis of approximately 500 homozygous null mutant embryos, produced from targeting a variety of mouse genes and harvested at embryonic day 14.5 as part of the “Deciphering the Mechanisms of Developmental Disorders” www.dmdd.org.uk program. We have searched for anatomical features that have the potential to serve as biomarkers for CNS defects in such genetically modified lines. Our analysis identified two promising biomarker candidates. Hypoglossal nerve (HGN) abnormalities (absent, thin, and abnormal topology) and abnormal morphology or topology of head arteries are both frequently associated with the full spectrum of morphological CNS defects, ranging from exencephaly to more subtle defects such as abnormal nerve cell migration. Statistical analysis confirmed that HGN abnormalities (especially those scored absent or thin) indeed showed a significant correlation with CNS defect phenotypes. These results demonstrate that null mutant lines showing HGN abnormalities are also highly likely to produce CNS defects whose identification may be difficult as a result of morphological subtlety or low genetic penetrance.


Retina ◽  
1987 ◽  
Vol 7 (4) ◽  
pp. 241-245 ◽  
Author(s):  
LAWRENCE PIAZZA ◽  
GERALD A. FISHMAN ◽  
ROBERT D. KAPLAN ◽  
ALFRED L. HOROWITZ ◽  
WALID A. HINDO ◽  
...  

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