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Table 2 Fetal abnormalities detected using BACs-on-Beads (BoBs™) alone and conventional karyotyping alone

From: Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Prenatal BoBs™ (n, %)

Conventional karyotyping (n, %)

Gender

Fetal outcome

Number

Trisomy 13 (1, 0.02%)

Abnormal (1, 0.02%)

Male

Abortion

1

Trisomy 18 (24, 0.49%)

Abnormal (24, 0.49%)

Female

Abortion

15

Male

Abortion

9

Trisomy 21 (82, 1.69%)

Abnormal (82, 1.69%)

Female

Abortion

42

Male

Abortion

39

DiGeorge syndrome (2, 0.04%)

Normal (2, 0.04%)

Male

Abortion

2

Williams–Beuren syndrome (1, 0.02%)

Normal (1, 0.02%)

Female

Abortion

1

Turner syndrome (4, 0.08%)

Abnormal (4, 0.08%)

Female

Normal

1

  

Female

Abortion

3

Klinefelter’s syndrome (3, 0.06%)

Abnormal (3, 0.06%)

Male

Abortion

3

Othersa (27, 0.57%)

Normal (20, 0.41%)

Female

Normal

7

Female

Abortion

1

  

Male

Normal

10

  

Male

Abortion

2

 

Abnormal (7, 0.15%)

Female

Abortion

5

  

Male

Abortion

2

  1. BoBs™: Bacterial artificial chromosome (BACs)-on-Beads examination
  2. -: Sex data missing
  3. a15q11, 18p11, 22q11.2, 7q11.2, Xp22.31, Yq11 chromosomal region enrich, Xp21-p22, Xp22.31 chromosomal region deletion, 47XXX, 47XYY