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Table 2 Stratified analysis of CNVs detection and pregnancy outcome in CL/P fetuses

From: Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Groups (Total cases)

CSVs

VUS

Live Births

TOPs

LTFU/Not LTFU

Singleton vs. Twins (358)

 Singleton (338)

26/338, 7.7%

17/338, 5.0%

191/338, 56.5%

137/338, 40.5%

10/338, 3.0%

 Twins (20)

3/20 15.0%

1/20, 5.0%

10/20, 50.0%

8/20, 40.0%

2/20, 10.0%

 p-value

0.433

1.000

0.569

0.068

0.140

Isolated vs. Non-isolateda (335)

 Isolated (305)

15/305, 4.9%

15/305, 4.9%

188/305, 61.6%

107/305, 35.1%

10/305, 3.3%

 Non-isolated (33)

11/33, 33.3%

2/33, 6.1%

3/33, 9.1%

30/33, 90.9%

0/33

 p-value

0.000

1.000

0.000

0.000

/

Affected relativesa (335)

 Yes (33)

1/33, 3.0%

1/33, 3.0%

18/33, 54.5%

15/33, 45.5%

0/33

 No (305)

25/305, 8.2%

16/305, 5.2%

173/305, 56.7%

122/305, 40%

10/305, 3.3%

 p-value

0.475

0.893

0.811

0.544

/

CP/CL vs. CLPa (335)

 CP (12)

3/12, 25.0%

1/12, 8.3%

5/12, 41.7%

7/12, 58.3%

0/12

 CL (38)

0/38

2/38, 5.3%

32/38, 84.2%

5/38, 13.2%

1/38, 2.6%

 CLP (288)

23/288, 8.0%

14/288, 4.9%

155/288, 53.8%

124/288, 43.1%

9/288, 3.1%

 p-value

/

0.384

0.001

0.000

/

  1. CLP Cleft lip and palate, CL Cleft lip, CP Cleft palate, CSVs Clinically significant variants, VUS Variants of unknown significance, TOP Termination of pregnancy, LTFU Lost to follow up
  2. a: Comparison in singleton pregnancies