Targeted sequencing of maternal plasma for haplotype-based non-invasive prenatal testing of spinal muscular atrophy.
Five pregnant women with a child affected by spinal muscular atrophy (SMA) were recruited between November 2014 and March 2015. Deletion of exons 7 and/or 8 in the SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA), the current standard diagnostic test for SMA. Parental and fetal haplotypes of the SMN1 gene were determined in each family from haplotype-based non-invasive testing of blood samples and maternal plasma, respectively. Fetal haplotype was compared with the results of MLPA of fetal DNA obtained from amniotic fluid or chorionic villi. Parental haplotypes were constructed successfully in the five families. Assisted by the information on parental haplotype, non-invasive testing of maternal plasma identified one fetus with homozygous deletion of exons 7 and 8, two fetuses with heterozygous deletion of exons 7 and 8 and two normal fetuses. These results were consistent with the diagnosis by MLPA. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.|Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, China.|The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, China.|Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, China.
M
M
Chen
BGI-Shenzhen, Shenzhen, China.
S
S
Lu
Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.|Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, China.|The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, China.|Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, China.
Z F
ZF
Lai
BGI-Shenzhen, Shenzhen, China.|Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin, China.|Binhai Genomics Institute, BGI-Tianjin, Tianjin, China.
C
C
Chen
Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.|Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, China.|The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, China.|Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, China.
K
K
Luo
BGI-Shenzhen, Shenzhen, China.|Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin, China.|Binhai Genomics Institute, BGI-Tianjin, Tianjin, China.
Y
Y
Yuan
BGI-Shenzhen, Shenzhen, China.|Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin, China.|Binhai Genomics Institute, BGI-Tianjin, Tianjin, China.
Y S
YS
Wang
BGI-Guangzhou, Guangzhou, China.
S Q
SQ
Li
BGI-Shenzhen, Shenzhen, China.
Y
Y
Gao
BGI-Shenzhen, Shenzhen, China.
F
F
Chen
BGI-Shenzhen, Shenzhen, China.|Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin, China.|Binhai Genomics Institute, BGI-Tianjin, Tianjin, China.
Asan
Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, China.|The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, China.|Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, China.|Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, China.
D J
DJ
Chen
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055815:Young Adult
D055533:Survival of Motor Neuron 1 Protein
haplotype; non-invasive prenatal test; spinal muscular atrophy