The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Journal
American journal of perinatology
ISSN: 1098-8785
Titre abrégé: Am J Perinatol
Pays: United States
ID NLM: 8405212
Informations de publication
Date de publication:
28 Dec 2023
28 Dec 2023
Historique:
medline:
29
12
2023
pubmed:
29
12
2023
entrez:
28
12
2023
Statut:
aheadofprint
Résumé
Congenital birth defects affect 3 to 5% of pregnancies. Genetic counseling can help patients navigate the testing process and understand results. The study objective was to identify predictors and utility of genetic counseling at the time of pregnancy termination. Additionally, we aimed to see what proportion of patients would benefit from additional testing based on the results of the genetic testing. This was a retrospective cohort review of all terminations performed for fetal anomalies by an academic center from July 2016 to May 2020. Indications were stratified by abnormal serum screening or types of abnormal ultrasound findings. Data were abstracted regarding uptake of genetic counseling and testing results. Abnormal results that warranted additional testing regarding recurrence risks were noted. Multivariable logistic regression was performed to identify predictors of receipt of genetic counseling and testing. Of 387 patients, 57% ( Genetic counseling was associated with increased uptake of diagnostic testing, which yielded useful information and prompted additional testing. This is important for determining etiology and recurrence risk and should be offered to patients presenting for termination for fetal indications, as well as providing diagnostic closure for patients. · Genetic counseling increases the uptake of diagnostic testing in patients with fetal anomalies.. · Patients with ultrasound anomalies received less diagnostic testing despite actionable results 36% of the time.. · Genetic testing is invaluable for recurrence risk counseling even if patients chose to terminate..
Identifiants
pubmed: 38154468
doi: 10.1055/s-0043-1777706
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.