Noninvasive Prenatal Screening for Single-Gene Disorders

被引：0

作者：

Gonsalves, Zenobia ^{[1
]}

Klugman, Susan ^{[1
]}

机构：

[1] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Obstet & Gynecol & Womens Hlth, Bronx, NY 10467 USA

来源：

CLINICAL OBSTETRICS AND GYNECOLOGY | 2023年 / 66卷 / 03期

关键词：

cell-free DNA; single-gene disorders; prenatal screening; clinical validity; pretest counseling; posttest counseling; CELL-FREE DNA; DIAGNOSIS NIPD; FETAL DNA; EXPERIENCE;

D O I：

10.1097/GRF.0000000000000795

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Single-gene disorders (SGDs), also known as monogenic disorders, are caused by pathogenic variants at individual loci. Prenatal cell-free DNA screening for SGDs has been investigated for decades. Detecting paternal and de novo variants may be somewhat straightforward, whereas detecting maternally inherited variants poses a significant challenge. Although commercially available in both high-risk and low-risk patients, many limitations exist. The use of SGDs is not supported by professional medical societies.

引用

页码：629 / 635

页数：7

共 50 条

[1] Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
Rabinowitz, Tom
Polsky, Avital
Golan, David
Danilevsky, Artem
Shapira, Guy
Raff, Chen
Basel-Salmon, Lina
Matar, Reut Tomashov
Shomron, Noam
[J]. GENOME RESEARCH, 2019, 29 (03) : 428 - 438
[2] Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR
Camunas-Soler, Joan
Lee, Hojae
Hudgins, Louanne
Hintz, Susan R.
Blumenfeld, Yair J.
El-Sayed, Yasser Y.
Quake, Stephen R.
[J]. CLINICAL CHEMISTRY, 2018, 64 (02) : 336 - 345
[3] Clinical Experience With Non-invasive Prenatal Screening for Single-Gene Disorders
Mohan, P.
Lemoine, J.
Trotter, C.
Rakova, I.
Billings, P.
Peacock, S.
Kao, C. -y.
Wang, Y.
Xia, F.
Eng, C. M.
Benn, P.
[J]. OBSTETRICAL & GYNECOLOGICAL SURVEY, 2022, 77 (07) : 391 - 393
[4] Clinical experience with non-invasive prenatal screening for single-gene disorders
Mohan, P.
Lemoine, J.
Trotter, C.
Rakova, I
Billings, P.
Peacock, S.
Kao, C-Y
Wang, Y.
Xia, F.
Eng, C. M.
Benn, P.
[J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 59 (01) : 33 - 39
[5] Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders
Young, Elizabeth
Bowns, Benjamin
Gerrish, Amy
Parks, Michael
Court, Samantha
Clokie, Samuel
Mashayamombe-Wolfgarten, Chipo
Hewitt, Julie
Williams, Denise
Cole, Trevor
Allen, Stephanie
[J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (09): : 1151 - 1161
[6] Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier
Scotchman, Elizabeth
Chandler, Natalie J.
Mellis, Rhiannon
Chitty, Lyn S.
[J]. CLINICAL CHEMISTRY, 2020, 66 (01) : 53 - 60
[7] Prenatal diagnosis of single-gene disorders: the earlier, the better?
Li, J.
Li, D. -Z.
[J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2020, 56 (05) : 788 - +
[8] Validation of single-gene noninvasive prenatal testing for sickle cell disease
Westin, Erik R.
Tsao, David S.
Atay, Oguzhan
Landry, Brian P.
Ye, Patrick P.
Chandler-Brown, Devon
Alford, Brian
Hoskovec, Jennifer
Subramaniam, Akila
Pawlik, Kevin M.
Kuper, Spencer G.
Goldman, Frederick D.
Townes, Tim M.
Sheehan, Vivien A.
[J]. AMERICAN JOURNAL OF HEMATOLOGY, 2022, 97 (07) : E270 - E273
[9] Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders
Kong, Lingrong
Li, Shaojun
Zhao, Zhenhua
Feng, Jun
Fu, Xinyu
Li, Huanyun
Zhu, Jingqi
Wang, Yanan
Tang, Weiqin
Yuan, Chao
Li, Feifei
Han, Xiujuan
Wu, Di
Kong, Xiangdong
Sun, Luming
[J]. CLINICAL GENETICS, 2024, 105 (01) : 52 - 61
[10] Noninvasive prenatal diagnosis for single gene disorders
Allen, Stephanie
Young, Elizabeth
Bowns, Benjamin
[J]. CURRENT OPINION IN OBSTETRICS & GYNECOLOGY, 2017, 29 (02) : 73 - 79

← 1 2 3 4 5 →