Table 1 Patient clinical characteristics and molecular testing results of amniotic fluid

From: Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT)

ID

Age(year)

Gestational Age (week)

Intrauterine phenotype

Serological screening

NIPT/NIPT-plus

z-score

Karyotyping

CMA/CNV-seq

FISH

MLPA

ACMG

Diagnosis

Pregnancy Outcome

P1

27

20

Ventricular septal defect

T21, 1/751

T15

8. 467

 

arr(15)×3 [55%]

nuc ish (D1521x3,D16Z3x2)[65/100]

rsa[GRCh37] 15q11q13(19000000_33599999)×2-3, mat

P

15q11-q13 duplication syndrome (maternal interstitial)

induced labour

P2

35

16

Retromembrane hematoma, umbilical cord around the neck

 

seq[GRCh37] dup(15)(q11.2q12)

2.04

 

arr[GRCh37] 15q11.2q13.1(22770422_28943029)x4

 

rsa[GRCh37] 15q11q13(19000000_33599999)×4, mat

P

15q11-q13 duplication syndrome (maternal isodicentric)

induced labour

P3

23

14

Bilateral choroidal cysts and the fetal nasal bones were not visible

Individual indicator was abnormal, PAPPAMOM value was low

seq[GRCh37] dup(15)(q11.2q13.1)

1. 46

normal

seq[GRCh37]dup(15)(q11.2q13.1)

nuc ish (D15S11×3,D15Z1×2)[100]

rsa[GRCh37] 15q11q13(19000000_33599999)×3, pat

P

15q11-q13 duplication (paternal l interstitial)

caesarean section(37+3 weeks), normal

P4

29

13+

 

T21, 1/200

seq[GRCh37] dup(2)(q35q37.3),seq[GRCh37] del(11)(q24.3q25)

3.93/-5.56

normal

arr[GRCh37] 11q24.3q25(128375224_134930689)x2 hmz mat

  

AOH

 

caesarean section(40+2 weeks),normal

P5

38

16

  

T7

16.835

 

arr(7)×3[10%]

  

P

Mosaic trisomy 7

induced labour

P6

31

14+

 

T18, 1/894

T7

10.139

 

arr(7)×3[11%]

  

P

Mosaic trisomy 7

induced labour

P7

32

13

IUGR

T21, 1/73

seq[GRCh37] dup(14)(q21.1q32.33)

5. 775

 

arr[GRCh37] 14q11.2q13.3 (20520197_37350812)x2 hmz mat,14q24.2q32.33(70758466_104240618)x2 hmz mat

  

P

Temple syndrome

Spontaneous labor(38+3 weeks), small for gestational age, neonatal patent foramen ovale, protein-energy malnutrition, growth retardation

P8

38

12

  

seq[GRCh37] del(6)(q25.1q27)

-10.38

normal

arr[GRCh37] 6q25.2q27(152902809_170896644)x2 hmz mat

  

AOH

 

Spontaneous labor, apgar score of 9-10-10

P9

30

20+

 

T21, 1/867

seq[GRCh37] del(14)(q21.2-q32.11 )

-7.379

 

arr[GRCh37]15q23q25.3(70673857_86592054)×2 hmz

 

Negative

AOH

 

Spontaneous labor, normal

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