De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series

被引：0

作者：

Tran, Nhat-Thang ^{[1
,2
]}

Vo, Son Ta ^{[3
]}

Nguyen, Duy-Anh ^{[4
,5
]}

Nguyen, Canh-Chuong ^{[4
,5
]}

Dinh, Linh Thuy ^{[4
]}

Tran, Minh-Thu Thi ^{[4
]}

Tran, Danh-Cuong ^{[6
]}

Luong, Lan-Anh Thi ^{[7
]}

Doan, Kim-Phuong ^{[7
]}

Nguyen, Vu Quoc Huy ^{[8
]}

Ha, Thi Minh Thi ^{[8
]}

Truong, Linh-Giang Thi ^{[8
]}

Cao, Phuong Thi-Mai ^{[1
,2
]}

Tran, Vy Thi-Nhat ^{[2
]}

Trinh, Thu Huong Nhut ^{[9
]}

Le, Quang Thanh ^{[9
]}

Nguyen, Van Thong ^{[10
]}

Hoang, Diem-Tuyet Thi ^{[10
]}

Nguyen, My-Nhi Ba ^{[11
]}

Bui, Chi-Thuong ^{[12
]}

Tran, Son-Tra Thi ^{[13
]}

Lam, Duc-Tam ^{[14
]}

Le, Hong-Thinh ^{[15
]}

Nguyen, My-Ngoc Ba ^{[9
]}

Ho, Viet-Thang ^{[1
]}

Nguyen, Minh-Trung ^{[16
]}

Dao, Trang Thi ^{[5
]}

Nguyen, Phuong Minh ^{[17
,18
]}

Nguyen, Thu-Hang Le ^{[17
,18
]}

Ha, Nhung Phuong ^{[17
,18
]}

Lu, Y-Thanh ^{[17
,18
]}

Do, Thanh-Thuy Thi ^{[17
]}

Truong, Dinh-Kiet ^{[17
]}

Phan, Minh-Duy ^{[17
,18
]}

Nguyen, Hoai-Nghia ^{[17
,18
]}

Giang, Hoa ^{[17
,18
]}

Tang, Hung-Sang ^{[17
,18
]}

机构：

[1] Univ Med & Pharm Ho Chi Minh City, Ho Chi Minh City 70000, Vietnam

[2] Univ Med Ctr, Ho Chi Minh City 70000, Vietnam

[3] Vinmec Hlth Care Syst, Hanoi 10000, Vietnam

[4] Hanoi Obstet & Gynecol Hosp, Hanoi 10000, Vietnam

[5] Hanoi Med Univ, Hanoi 10000, Vietnam

[6] Natl Hosp Obstet & Gynecol, Hanoi 10000, Vietnam

[7] Hanoi Med Univ Hosp, Hanoi 10000, Vietnam

[8] Hue Univ, Univ Med & Pharm, Hue 49100, Vietnam

[9] Tu Du Hosp, Ho Chi Minh City 70000, Vietnam

[10] Hung Vuong Hosp, Ho Chi Minh City 70000, Vietnam

[11] Tam Anh Gen Hosp, Ho Chi Minh City 70000, Vietnam

[12] Gia Dinh Peoples Hosp, Ho Chi Minh City 70000, Vietnam

[13] Vietnam Cuba Friendship Dong Hoi Hosp, Dong Hoi 47100, Vietnam

[14] Can Tho Univ Med & Pharm, Can Tho 94000, Vietnam

[15] Can Tho Obstet & Gynecol Hosp, Can Tho 94000, Vietnam

[16] Hanh Phuc Giang Ob Gyn Hosp, Long Xuyen 90100, Vietnam

[17] Med Genet Inst, Ho Chi Minh City 70000, Vietnam

[18] Gene Solut, Ho Chi Minh City 70000, Vietnam

来源：

PERSONALIZED MEDICINE | 2023年

关键词：

case series; cell-free DNA; de novo; monogenic disorders; prenatal screening; FETAL DNA; DIAGNOSIS; EXOME;

D O I：

暂无

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.

引用

页数：9

共 17 条

[1] De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
Tran, Nhat-Thang
Vo, Son Ta
Nguyen, Duy-Anh
Nguyen, Canh-Chuong
Dinh, Linh Thuy
Tran, Minh-Thu Thi
Tran, Danh-Cuong
Luong, Lan-Anh Thi
Doan, Kim-Phuong
Nguyen, Vu Quoc Huy
Ha, Thi Minh Thi
Truong, Linh-Giang Thi
Cao, Phuong Thi-Mai
Tran, Vy Thi-Nhat
Trinh, Thu Huong Nhut
Le, Quang Thanh
Nguyen, Van Thong
Hoang, Diem-Tuyet Thi
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
Dao, Trang Thi
Nguyen, Phuong Minh
Nguyen, Thu-Hang Le
Ha, Nhung Phuong
Lu, Y-Thanh
Do, Thanh-Thuy Thi
Truong, Dinh-Kiet
Phan, Minh-Duy
Nguyen, Hoai-Nghia
Giang, Hoa
Tang, Hung-Sang
PERSONALIZED MEDICINE, 2023, 20 (06) : 467 - 475
[2] 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
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Tran, Uyen Vu
Dinh, An My
Nguyen, Thanh-Thanh Thi
Do, Thanh-Thuy Thi
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Tang, Hung-Sang
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PERSONALIZED MEDICINE, 2023, 20 (05) : 425 - 433
[3] Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing
Yan, Xu
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Zhang, Changjun
CLINICAL CASE REPORTS, 2021, 9 (04): : 1845 - 1848
[4] Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders
Wu, Wenman
Zhou, Xuanyou
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HUMAN GENOMICS, 2022, 16 (01)
[5] Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders
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Xuanyou Zhou
Zhengwen Jiang
Dazhi Zhang
Feng Yu
Lanlan Zhang
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Human Genomics, 16
[6] A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
Lopez-Rivera, Javier A.
Perez-Palma, Eduardo
Symonds, Joseph
Lindy, Amanda S.
McKnight, Dianalee A.
Leu, Costin
Zuberi, Sameer
Brunklaus, Andreas
Moller, Rikke S.
Lal, Dennis
BRAIN, 2020, 143 : 1099 - 1105
[7] An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge
Sezer, A.
Ogutlu, O. B. Gundogdu
Turkyilmaz, Z.
Gucuyener, K.
Kayhan, G.
Percin, F. E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 895 - 895
[8] De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
Riva, Martina
Ferreira, Sofia
Hayashi, Kotaro
Saillour, Yoann
Medvedeva, Vera P.
Honda, Takao
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Altersitz, Claire
Albadri, Shahad
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Josifova, Dragana
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JOURNAL OF CLINICAL INVESTIGATION, 2024, 134 (16):
[9] A DE NOVO PRENATAL DIAGNOSIS 21 RING CHROMOSOME DETECTED IN THREE STEPS - CLINICAL CASE REPORT
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Ferreira, Susana I.
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MEDICINE, 2023, 102 (13)
[10] Movement Disorders in De Novo Hyperglycemic Crisis: Insights from a Clinical Case Series
Japon-Cueva, D.
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