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Table 5 Prenatal diagnosis of fetuses of spinal muscular dystrophy carrier parents

From: Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province

Family

SMN1 of mother

SMN1 of father

SMN1 of fetus

Pregnancy outcomes

1

E7 and E8

heterozygous deletion

E7 and E8

heterozygous deletion

E7 and E8

homozygous deletion

Pregnancy terminated

2

E7 and E8

heterozygous deletion

E7 and E8

heterozygous deletion

E7 and E8

heterozygous deletion

Pregnancy continued

3

E7 and E8

heterozygous deletion

E7 and E8

heterozygous deletion

E7 and E8

heterozygous deletion

Pregnancy continued

  1. SMN, survival motor neuron; E7, exon 7; E8, exon 8