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Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.
Nguyen, Nhi Yen; Lu, Y-Thanh; Nguyen, Duy-Anh; Nguyen, Canh-Chuong; Dinh, Linh Thuy; Tran, Minh-Thu Thi; Tran, Danh-Cuong; Luong, Lan-Anh Thi; Doan, Kim-Phuong; Huy Nguyen, Vu Quoc; Thi Ha, Thi Minh; Truong, Linh-Giang Thi; Tran, Nhat-Thang; Cao, Phuong Thi-Mai; Tran, Vy Thi-Nhat; Nhut Trinh, Thu Huong; Le, Quang Thanh; Nguyen, Van Thong; Hoang, Diem-Tuyet Thi; Vo, Son Ta; Nguyen, My-Nhi Ba; Bui, Chi-Thuong; Tran, Son-Tra Thi; Lam, Duc-Tam; Le, Hong-Thinh; Nguyen, My-Ngoc Ba; Ho, Viet-Thang; Nguyen, Minh-Trung; Doan, Phuoc-Loc; Tran, Kim-Van Thi; Tran, Huyen-Trang Thi; Tran, Uyen Vu; Dinh, An My; Nguyen, Thanh-Thanh Thi; Do, Thanh-Thuy Thi; Truong, Dinh-Kiet; Phan, Minh-Duy; Nguyen, Hoai-Nghia; Tang, Hung-Sang; Giang, Hoa.
Afiliação
  • Nguyen NY; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
  • Lu YT; Gene Solutions, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen DA; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen CC; Gene Solutions, Ho Chi Minh City, 70000, Vietnam.
  • Dinh LT; Hanoi Obstetrics & Gynecology Hospital, Hanoi City, 10000, Vietnam.
  • Tran MT; Hanoi Medical University, Hanoi City, 10000, Vietnam.
  • Tran DC; Hanoi Obstetrics & Gynecology Hospital, Hanoi City, 10000, Vietnam.
  • Luong LT; Hanoi Medical University, Hanoi City, 10000, Vietnam.
  • Doan KP; Hanoi Obstetrics & Gynecology Hospital, Hanoi City, 10000, Vietnam.
  • Huy Nguyen VQ; Hanoi Obstetrics & Gynecology Hospital, Hanoi City, 10000, Vietnam.
  • Thi Ha TM; National Hospital of Obstetrics & Gynecology, Hanoi City, 10000, Vietnam.
  • Truong LT; Hanoi Medical University Hospital, Hanoi City, 10000, Vietnam.
  • Tran NT; Hanoi Medical University Hospital, Hanoi City, 10000, Vietnam.
  • Cao PT; University of Medicine & Pharmacy, Hue University, Hue City, 49100, Vietnam.
  • Tran VT; University of Medicine & Pharmacy, Hue University, Hue City, 49100, Vietnam.
  • Nhut Trinh TH; University of Medicine & Pharmacy, Hue University, Hue City, 49100, Vietnam.
  • Le QT; University of Medicine & Pharmacy at HCMC, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen VT; University Medical Center, Ho Chi Minh City, 70000, Vietnam.
  • Hoang DT; University of Medicine & Pharmacy at HCMC, Ho Chi Minh City, 70000, Vietnam.
  • Vo ST; University Medical Center, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen MB; University Medical Center, Ho Chi Minh City, 70000, Vietnam.
  • Bui CT; Tu Du Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Tran ST; Tu Du Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Lam DT; Hung Vuong Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Le HT; Hung Vuong Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen MB; Vinmec Health Care System, Hanoi City, 10000, Vietnam.
  • Ho VT; Tam Anh General Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen MT; Gia Dinh People's Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Doan PL; Vietnam-Cuba Friendship Dong Hoi Hospital, Dong Hoi City, Quang Binh Province, 47100, Vietnam.
  • Tran KT; Can Tho University of Medicine & Pharmacy, Can Tho City, 94000, Vietnam.
  • Tran HT; Can Tho Obstetrics & Gynecology Hospital, Can Tho City, 94000, Vietnam.
  • Tran UV; Tu Du Hospital, Ho Chi Minh City, 70000, Vietnam.
  • Dinh AM; University of Medicine & Pharmacy at HCMC, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen TT; Hanh Phuc An Giang Ob.Gyn Hospital, Long Xuyen City, An Giang Province,90100, Vietnam.
  • Do TT; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
  • Truong DK; Gene Solutions, Ho Chi Minh City, 70000, Vietnam.
  • Phan MD; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
  • Nguyen HN; Gene Solutions, Ho Chi Minh City, 70000, Vietnam.
  • Tang HS; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
  • Giang H; Gene Solutions, Ho Chi Minh City, 70000, Vietnam.
Per Med ; 20(5): 425-433, 2023 Sep.
Article em En | MEDLINE | ID: mdl-37623819
ABSTRACT

Background:

Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.

Methods:

NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases.

Results:

Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported.

Conclusion:

NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Teste Pré-Natal não Invasivo Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Per Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Vietnã

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Teste Pré-Natal não Invasivo Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Per Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Vietnã