Table 1 Summary of unbalanced translocations identified at NIPS and diagnostic test findings.

From: Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Sample

Parental translocation karyotype

Fetal/neonatal CNV molecular breakpoints Human genome build GRCh37/hg19

CNV Size (Mb)

Diagnostic test (sample type)

Gestation at NIPS collection (weeks + days)

cfDNA CNV chromosome position (bp)

z-score

Fetal fraction (%)

1a

t(3;13)(q21;q34)mat

3q22.1q29(131,136,797–197,845,233)x3

66.7

Microarray (CVS)

10 + 5

dup3: 130,000,000–197,000,000

8.390

6.7

4

t(5;10)(p15.3;q26.1),t(6;8)(q16;q11.23)mat,inv(17)(q21.31q25.1)mat

5p15.33p15.1(38,139–16,054,101)x1,

16.0

Microarray (CVS)

14 + 1

del5: 0–18,000,000

−7.69

6.5

  

10q25.2q26.3(112,334,554–135,430,043)x3

23.1

  

dup10: 113,000,000–134,000,000

8.220

 

10

t(5;11)(p14.3;p15.5)pat

5p15.33p14.3(30,139–19,630,798)x1

19.6

Microarray and karyotype (CVS)

12 + 5

del5: 0–18,000,000

−11.8

7.5

  

11p15.5(203,788–1,762,566)x3

1.7

  

NC

  

13b

t(11;22)(q23.3;q11.2)mat

11q23.3(116,691,634–134,934,063)x3

18.2

Microarray and karyotype (saliva and umbilical cord)

12 + 2

dup11: 115,000,000–134,000,000

7.792

6.4

  

22q11.1q11.21(16,055,122–20,283,228)x3

4.2

  

NC

  

17

t(3;15)(p23;q26.1)mat

3p26.3p24.1(66,894–27,120,082)x3

27.1

Microarray (products of conception)

10 + 1

dup3: 0–29,000,000

7.975

8.2

  

15q26.2q26.3(97,535,118–102,397,836)x1

4.8

  

NC

  

33

t(7;10)(q22;q24.3)mat

7q31.31q36.1(118,818,097–147,955,552)x3,

29.1

Microarray (CVS)

11 + 5

dup7: 119,000,000–148,000,00

8.474

9.4

  

10q23.1q23.2(85,984,322–88,722,185)x1

2.7

  

NC

  
  

10q23.31(90,033,505–90,762,728)x1

0.73

  

NC

  
  

10q23.31q23.32(92,121,488–93,301,428)x1

1.1

  

NC

  

38

t(3;6;3)(p26;q24;q26.3)pat

3p26.3p26.1(61,891–7,266,587)x1

7.2

Microarray (amniotic fluid)

12 + 4

NC

 

4.8

  

6q24.1q27(141,507,172–170,914,297)x3

29.4

  

dup6: 143,000,000–165,000,000

4.855

 
  1. NC indicates not called as size of genomic imbalance <10 Mb.
  2. cfDNA cell-free DNA, CNV  copy-number variant, CVS chorionic villus sampling, mat maternal translocation, NIPS noninvasive prenatal screening, pat paternal translocation.
  3. aPatient had two separate pregnancies tested over the period of the study, first pregnancy sample 1 and second pregnancy sample 29 (Table 2).
  4. bPatient had two separate pregnancies tested over the period of the study, first pregnancy sample 13 and second pregnancy sample 27 (Table 2).
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