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Table 1 Characteristics of study population

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Characteristic

Study population (n = 9452)

Maternal age (years)

31 (27–36)

Advanced maternal age (≥ 35 yrs)

3142 (33.2)

Nation

 Han

6593 (69.8)

 Yi

822 (8.7)

 Bai

433 (4.6)

 Dai

282 (3.0)

 Hui

250 (2.6)

 Zhuang

167 (1.8)

 Naxi

145 (1.5)

 Hani

112 (1.2)

 Others

648 (6.8)

Parity

 Nulliparous

3457 (36.6)

 Parous

5995 (63.4)

   = 1

5355 (56.7)

   = 2

567 (6.0)

   ≥ 3

64 (0.7)

Gestational age at invasive diagnosis (weeks)

20 (19–21)

Invasive prenatal diagnosis procedure

 Amniocentesis

8855 (93.7)

 Cordocentesis

552 (5.8)

 Chorion villus sampling

44 (0.5)

Maternal or/and paternal chromosome abnormalities

155 (1.6)

History of bearing child with chromosome abnormalities

203 (2.1)

Indications for invasive prenatal diagnosis

 NIPT high-risk

415 (4.4)

 Maternal serum screening high-risk

1984 (21.0)

  DS high-risk

2999 (31.7)

  ES high-risk

799 (8.5)

  Both DS and ES high-risk

 

 Advanced maternal age (≥ 35 yrs)

1177 (12.5)

 Abnormal fetal ultrasonography

1229 (13.0)

  Grade 1

1857 (19.6)

  Grade 2

1549 (16.4)

  Grade 3

531 (5.6)

  Grade 4

219 (2.3)

 Other indications

831 (8.8)

  ≥ two indications

3816 (40.4)