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Tytuł pozycji:

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.

Tytuł:
Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.
Autorzy:
Gou L; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Fang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wang N; DAAN Gene Co., Ltd. of Sun Yat-sen University, Guangzhou, Guangdong, China.
Zhang M; Zhejiang Biosan Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang, China.
Liu T; Department of Pharmacy, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Hu S; Office of Scientific Research & Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan Province, China.
Zhang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wu Q; Zhejiang Biosan Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang, China.
Wang Y; Department of Ultrasound, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Suo F; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Gu M; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Źródło:
The Journal of international medical research [J Int Med Res] 2020 Nov; Vol. 48 (11), pp. 300060520966877.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Publication: Nov. 2012- : London : Sage Publications
Original Publication: Northampton, Eng., Cambridge Medical Publications ltd.
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Aneuploidy ; China ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Trisomy
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Contributed Indexing:
Keywords: Rare autosomal aneuploidy; chromosomal microarray analysis; non-invasive prenatal test; pregnancy outcome; trisomy; uniparental disomy
Entry Date(s):
Date Created: 20201110 Date Completed: 20210514 Latest Revision: 20210514
Update Code:
20240105
PubMed Central ID:
PMC7658522
DOI:
10.1177/0300060520966877
PMID:
33167762
Czasopismo naukowe
Objective: To review our experiences on clinical management of pregnancies with positive noninvasive prenatal testing (NIPT) results for rare autosomal aneuploidies (RAAs) at a single center.
Methods: We performed a retrospective study and reviewed data from 18,016 pregnancies undergoing NIPT at a single center in China from March 2017 to February 2020. Depending on the patient's choice, women with positive screening results for RAAs underwent chromosomal microarray analysis for invasive prenatal diagnosis.
Results: Thirty-three positive cases for RAAs were identified, with a positive screening rate of 0.18%. The most common RAA was trisomy 7 (33.3%), while trisomies for other chromosomes were less frequent. Monosomies involving chromosomes 16, 14, and 22 were observed. Twenty-eight cases of RAAs underwent invasive diagnosis. Abnormal pregnancy outcomes were observed in four cases, including true fetal mosaicism (n=1), partial uniparental disomy (n=1), miscarriage (n=1), and structural anomalies on ultrasound (n=1).
Conclusions: RAAs at NIPT might be associated with fetal uniparental disomy, mosaic aneuploidy, and poor pregnancy outcomes, but most positive cases have normal pregnancy outcomes. For RAAs, genetic counseling on the potential risks of abnormal NIPT results, as well as on benefits and limitations of invasive prenatal diagnosis, might help guide clinical management.

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