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Table 1 Summary of clinical samples used in this study

From: Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia

Category

Source

Sample Typea

Age (years)/Gestational age (weeks)

Ethnicity

Family1

Paternal blood

Maternal blood

Fetus’s umbilical cord

gDNA

gDNA

gDNA

NA

27

17W2 (terminated)

East Asian

Family2

Paternal blood

Maternal blood

Fetus’s umbilical cord

Maternal blood

gDNA

gDNA

gDNA

cfDNA

37

28

21W1 (terminated)

21W1

East Asian

Family3

Paternal blood

Maternal blood

gDNA

gDNA

cfDNA

34

32

14W1

East Asian

Family4

Paternal blood

Maternal blood

gDNA

gDNA

cfDNA

NA

38

12W4

East Asian

Family5

Paternal blood

Maternal blood

gDNA

gDNA

cfDNA

37

32

15W4

East Asian

Family6

Paternal blood

Maternal blood

gDNA

gDNA

cfDNA

35

33

NA

East Asian

Individual

Maternal blood

gDNA

cfDNA

36

14W1

East Asian

Individual

Maternal blood

gDNA

cfDNA

29

16W0

East Asian

Individual

Maternal blood

gDNA

cfDNA

31

11W4

East Asian

Individual

Maternal blood

gDNA

cfDNA

28

21W1

East Asian

Individual

Maternal blood

gDNA

cfDNA

41

12W4

East Asian

Individual

Maternal blood

gDNA

cfDNA

35

14W

East Asian

Individual

Maternal blood

gDNA

cfDNA

33

13W2

East Asian

Individual

Maternal blood

gDNA

cfDNA

33

16W0

East Asian

Individual

Maternal blood

gDNA

cfDNA

27

21W1

East Asian

Individual

Maternal blood

cfDNA

13W

East Asian

Individual

Maternal blood

cfDNA

12W4

East Asian

Individual

Maternal blood

cfDNA

17W1

East Asian

Individual

Maternal blood

cfDNA

13W

East Asian

Individual

Maternal blood

cfDNA

13W2

East Asian

Individual

Maternal blood

cfDNA

18W7

East Asian

Individual

Maternal blood

cfDNA

12W2

East Asian

Individual

Maternal blood

cfDNA

12W6

East Asian

Individual

Maternal blood

cfDNA

11W2

East Asian

Individual

Maternal blood

cfDNA

12W6

East Asian

Individual

Maternal blood

cfDNA

13W1

East Asian

Individual

Maternal blood

cfDNA

16W3

Southeast Asian

Individual

Maternal blood

cfDNA

11W3

East Asian

Individual

Maternal blood

cfDNA

13W0

East Asian

Individual

Maternal blood

cfDNA

11W

East Asian

Individual

Maternal blood

cfDNA

14W0

East Asian

Individual

Maternal blood

cfDNA

11W3

East Asian

Individual

Maternal blood

cfDNA

16W1

East Asian

Individual

Maternal blood

cfDNA

12W1

Caucasian

Individual

Maternal blood

cfDNA

15W6

East Asian

Individual

Maternal blood

cfDNA

11W0

East Asian

Individual

Maternal blood

cfDNA

14W2

East Asian

  1. a gDNA, genomic DNA; cfDNA, cell-free DNA