Table 1 Sample population statistics and reasons for carrier screening carried out for all patients.

From: Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China

Statistics

Categories

Number of samples

Number of carriers

Carrier rate (%)

Number of PLPVs

Variant per person (mutation burden)

All Participants

Female

876

599

68.38

995

1.14

 

Male

389

240

61.70

402

1.03

 

all

1265

839

66.32

1397

1.1

Singles

Female

488

308

63.11

510

1.05

Couples Only

Female

388

291

75.00

485

1.25

 

Male

388

239

61.60

400

1.03

 

All

756

530

70.11

885

1.17

Ethnicity

Majority Han

1131

756

66.84

1247

1.1

 

All Minoritiesa

130

80

61.54

146

1.12

 

Of Which Yi

67

39

58.21

74

1.1

No Known Risk Factors

Routine Genetic Screening

281

187

66.55

310

1.1

Advanced Age

Maternal

234

154

65.81

260

1.11

Abortion History

Spontaneous

109

75

68.81

120

1.1

 

Otherb

131

83

63.36

147

1.12

History of Abnormal Pregnancy

Ultrasound Anomaly

53

43

81.13

65

1.23

 

Past Abnormal Pregnancy

26

20

76.92

36

1.38

 

Stillbirth

44

26

59.09

41

0.93

Maternal Factors

Health Issuec

67

52

77.61

90

1.34

 

Family Historyd

225

162

72.00

264

1.17

 

Consanguinity

7

4

57.14

7

1

  1. aMinorities in the order of decreasing sample number include Yi (彝), Bai (白), Hui (回), Naxi (纳西), Dai (傣), Zhuang (壮), Miao (苗), Lisu (傈僳), Lahu (拉祜), Tujia (土家), Hani (哈尼), Menggu (蒙古), Man (满), Dong (侗)
  2. bOther abortion history includes infertility, induced abortions, and unspecified abortion histories
  3. cThe health issues encompass diabetes, obesity, hypothyroidism, and other maternal health concerns
  4. dFamily history includes diseases of suspected genetic origins such as dwarfism, thalassemia, systemic lupus erythematosus, etc., as well as common phenotypes like metabolic syndromes
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