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Table 1 Rearrangement types and risks in the cohort with recurrent pregnancy loss (RPL) in males, females and the whole karyotyped cohort

From: What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Rearrangement types and risks in the cohort with RPL

Number of aberrations in males

Percentage (%) aberrations in males

Number of aberrations in females

Percentage (%) aberrations in females

p-Value*

Total number of aberrations

Percentage

Reciprocal translocation

132

71.4

183

66.1

0.232

315

68.2

Robertsonian translocation

31

16.8

67

24.2

0.056

98

21.2

Paracentric inversion

16

8.6

17

6.1

0.304

33

7.1

Pericentric inversion

3

1.6

6

2.2

0.747

9

1.9

Complex

2

1.1

4

1.4

1.00

6

1.3

Insertion

1

0.5

0

0

0.400

1

0.2

Total

185

1.25%

(185/14818 individuals)

277

1.73% (277/16045 individuals)

 < 0.001

462

2.88% (462/16045 couples)

Risk for balanced rearrangement causing RPL

 

 1:80 in males

 

1:58 in females

  

1:35 in couples

  1. Bold value signifies risk figures
  2. *p-Value for the difference between percentages aberrations in males versus females, where chi-square test for proportions was used or Fisher’s exact test (2-sided) for expected counts < 5
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Molecular Cytogenetics

ISSN: 1755-8166