Prenatal prediction of spinal muscular atrophy in Chinese

Lin Shuan-Pei; Jan Gowth Chang; Yuh Jyh Jong; Tzu Yao Yang; Chang Hai Tsai; Nancy M. Wang; Hung Li; Hsieh Mei Hsieh-Li; Cheur Jong Hu

doi:10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P

Prenatal prediction of spinal muscular atrophy in Chinese

Lin Shuan-Pei, Jan Gowth Chang, Yuh Jyh Jong, Tzu Yao Yang, Chang Hai Tsai, Nancy M. Wang, Hung Li, Hsieh Mei Hsieh-Li, Cheur Jong Hu

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

Abstract

We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

Original language	English
Pages (from-to)	657-661
Number of pages	5
Journal	Prenatal Diagnosis
Volume	19
Issue number	7
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P
Publication status	Published - 1999
Externally published	Yes

Keywords

Chinese
Non-isotope SSCP
Prenatal
SMA

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

Access to Document

10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P

Cite this

@article{b535ae8834a74a9e824da78b796970f7,

title = "Prenatal prediction of spinal muscular atrophy in Chinese",

abstract = "We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.",

keywords = "Chinese, Non-isotope SSCP, Prenatal, SMA",

author = "Lin Shuan-Pei and Chang, {Jan Gowth} and Jong, {Yuh Jyh} and Yang, {Tzu Yao} and Tsai, {Chang Hai} and Wang, {Nancy M.} and Hung Li and Hsieh-Li, {Hsieh Mei} and Hu, {Cheur Jong}",

year = "1999",

doi = "10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P",

language = "English",

volume = "19",

pages = "657--661",

journal = "Prenatal Diagnosis",

issn = "0197-3851",

publisher = "John Wiley and Sons Ltd",

number = "7",

}

TY - JOUR

T1 - Prenatal prediction of spinal muscular atrophy in Chinese

AU - Shuan-Pei, Lin

AU - Chang, Jan Gowth

AU - Jong, Yuh Jyh

AU - Yang, Tzu Yao

AU - Tsai, Chang Hai

AU - Wang, Nancy M.

AU - Li, Hung

AU - Hsieh-Li, Hsieh Mei

AU - Hu, Cheur Jong

PY - 1999

Y1 - 1999

N2 - We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

AB - We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

KW - Chinese

KW - Non-isotope SSCP

KW - Prenatal

KW - SMA

UR - http://www.scopus.com/inward/record.url?scp=0345280788&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0345280788&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P

DO - 10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P

M3 - Article

C2 - 10419615

AN - SCOPUS:0345280788

SN - 0197-3851

VL - 19

SP - 657

EP - 661

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 7

ER -

Prenatal prediction of spinal muscular atrophy in Chinese

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this