A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester.
Autopsy
Counseling
Diagnosis
Trisomy 18
Ultrasound
Journal
Archives of gynecology and obstetrics
ISSN: 1432-0711
Titre abrégé: Arch Gynecol Obstet
Pays: Germany
ID NLM: 8710213
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
pubmed:
24
6
2021
medline:
20
11
2021
entrez:
23
6
2021
Statut:
ppublish
Résumé
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 counseling. 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 counseling 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.
Identifiants
pubmed: 34159403
doi: 10.1007/s00404-021-06130-7
pii: 10.1007/s00404-021-06130-7
doi:
Substances chimiques
Pregnancy-Associated Plasma Protein-A
EC 3.4.24.-
Types de publication
Case Reports
News
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1115-1125Informations de copyright
© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.
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