دورية أكاديمية
أعرض في EDS

Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

التفاصيل البيبلوغرافية
العنوان: Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
المؤلفون: Bellair M; Luna Genetics, Houston, Texas, USA., Amaral E; Luna Genetics, Houston, Texas, USA., Ouren M; Luna Genetics, Houston, Texas, USA., Roark C; Luna Genetics, Houston, Texas, USA., Kim J; Luna Genetics, Houston, Texas, USA., O'Connor A; Luna Genetics, Houston, Texas, USA., Soriano A; Luna Genetics, Houston, Texas, USA., Schindler ML; Luna Genetics, Houston, Texas, USA., Wapner RJ; Columbia University Irving Medical Center, New York, New York, USA., Stone JL; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Tavella N; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Merriam A; Yale School of Medicine, New Haven, Connecticut, USA., Perley L; Yale School of Medicine, New Haven, Connecticut, USA., Breman AM; Indiana University School of Medicine, Indianapolis, Indiana, USA., Beaudet AL; Luna Genetics, Houston, Texas, USA.
المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 304-316. Date of Electronic Publication: 2024 Feb 27.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
مواضيع طبية MeSH: Placenta* , Prenatal Diagnosis*/methods, Pregnancy ; Humans ; Female ; Amniocentesis ; Aneuploidy ; Mosaicism ; Genetic Testing
مستخلص: Objective: To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood.
Methods: Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK + /CD45 - trophoblasts which were subjected to next-generation sequencing.
Results: Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low-risk pregnancies not undergoing CVS/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions/duplications, including one15q11-q13 deletion.
Conclusion: Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.
(© 2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
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معلومات مُعتمدة: N/A Luna Genetics, Inc
تواريخ الأحداث: Date Created: 20240227 Date Completed: 20240318 Latest Revision: 20240725
رمز التحديث: 20240726
DOI: 10.1002/pd.6529
PMID: 38411249
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0223
DOI:10.1002/pd.6529