16
|
29
|
18 + 5
|
Abnormal ultrasound
|
del of 5p14.1-p13.3(26M-29M)
|
normal
|
5p14.1(26,067,126 − 28,837,434)x1,17p13.3(716,837-1,201,192)x3
|
Uncertain significance
|
unknown
|
normal
|
17
|
24
|
16 + 1
|
voluntary
|
dup of 16p12.2
(22M-23M)
|
normal
|
16p12.2(21,841,353 − 22,431,031)x3
|
Uncertain significance
|
unknown
|
normal
|
18
|
27
|
17 + 0
|
voluntary
|
del of 15q13.1-q14
(30M-34M)
|
normal
|
15q13.2q13.3(30,955,149 − 32,513,176)x1
|
15q13.3 del syndrome
|
mother
|
normal
|
19
|
28
|
17 + 2
|
voluntary
|
dup of Xq21.33-q22.3
(98M-107M)
|
normal
|
Xq21.33q22.3(97,776,700 − 107,811,504)x3
|
PathogenicPelizaeus-Merzbacher disease
|
mother
|
delay development, mental retardation, nervous system abnormalities, facial abnormalities
|
20
|
29
|
17 + 2
|
voluntary
|
del of17p13.3-p13.2
(0.1M-6M)
|
normal
|
17p13.3p13.2(4,888-4,818,558)x1
|
miller-diekerlissencephaly syndrome
|
unknown
|
termination
|
21
|
29
|
14 + 6
|
voluntary
|
dup of 8p23.3-p23.2
(1M-5M)
|
normal
|
8p23.2(3,687,399-5,950,104)x4
|
uncertain significance
|
unknown
|
normal
|
22
|
31
|
19 + 4
|
voluntary
|
del of 17p13.3
(0.1M-3M)
|
normal
|
17p13.3(1,330,366-3,059,811)x1;17q12(34,824,845 − 36,339,294)x3
|
miller-diekerlissencephaly syndrome
|
unknown
|
termination
|
23
|
34
|
21 + 0
|
voluntary
|
del of 16p13.12-p12.3(15M-17M)
|
normal
|
16p13.12p13.11(14,780,640 − 16,458,424)x1
|
16p13.11 recurrent region (includes MYH11)
|
unknown
|
normal
|
24
|
28
|
16 + 6
|
High risk of serum screening
|
dup of 22q11.21
(18.9M-22M,)
|
46,XN,inv(9)p11q13
|
3p26.3(1,536,945-2,579,649)x3;22q11.21(18,844,632 − 21,462,353)x3
|
22q11.2 dup syndrome
|
unknown
|
normal
|
25
|
33
|
19 + 3
|
High risk of serum screening
|
del of Xp11.23-p11.22
(48-53M)
|
normal
|
Xp11.23p11.22(48,735,882 − 53,521,570)x1
|
uncertain significance
|
unknown
|
normal
|
26
|
24
|
18 + 6
|
High risk of serum screening
|
dup of 21q21.1
(17M-18M)
|
normal
|
21q21.1(17,775,056 − 19,154,417)x3
|
uncertain significance
|
unknown
|
normal
|
27
|
32
|
17 + 0
|
mild risk of serum screening
|
dup of 15q11.2-q13.1 ((23M-28M,)
|
normal
|
15q11.2q13.1(22,764,491 − 29,071,810)x3
|
15q11-q13 dup syndrome
|
unknown
|
termination
|
28
|
25
|
17 + 0
|
mild risk of serum screening
|
del of 4 q34.1-q34.3
(182M-183M)
|
normal
|
4q34.3q35.1(182,542,070–183,305,274)x1
|
uncertain significance
|
unknown
|
normal
|
29
|
25
|
17 + 3
|
mild risk of serum screening
|
dup of 22q11.21(19M-20M)
|
normal
|
22q11.21(18,648,855 − 21,800,471)x3
|
22q11.2 dup syndrome
|
unknown
|
normal
|
30
|
31
|
20 + 0
|
mild risk of serum screening
|
dup of 22q11.21-q11.23
(22M-24M)
|
normal
|
22q11.21q11.23(21,059,669 − 24,629,406)x3
|
22q11.2 recurrent region (distal type I, D-E/F)
|
unknown
|
ultrasound cardiac abnormalities,termination
|
31
|
22
|
17 + 5
|
mild risk of serum screening
|
dup of17q12
(35M-37M)
|
normal
|
17q12(34,822,465 − 36,243,365)x3
|
17q12 dup syndrome
|
mother
|
normal
|
32
|
27
|
24 + 5
|
Widening of lateral ventricle
|
dup of 13q12.11-q12.12
(22M-24M)
|
none
|
13q12.12(23,554,650 − 24,826,638)x3
|
uncertain significance
|
unknown
|
normal
|
33
|
25
|
22
|
voluntary
|
del of Xq27.1q27.3
(137M-143M)
|
none
|
Xq27.1q27.3(138,661,694 − 143,597,022)x1
|
uncertain significance
|
unknown
|
normal
|
34
|
31
|
19
|
Maternal mental retardation
|
dup of 22q12.1q12.2
(23M-24M)
|
none
|
22q12.1q12.2(28,317,927 − 30,826,759)x2 hmz
|
uncertain significance
|
Mother-22q11.23(23,700,639 − 25,086,816)x3,1.38M
|
unavailable
|
35
|
22
|
26 + 2
|
Maternal cleft lip and palate
|
del of 22q11.21
(18M-21M)
|
none
|
22q11.21(18,648,855 − 21,800,471)x1
|
DiGeorge syndrome
|
unknown
|
hoarseness, congenital heart disease
|
36
|
29
|
23 + 5
|
voluntary
|
del of 5p15.33-p15.2 (0M-3M)
|
none
|
5p15.33(38,139-2,436,105) × 1
|
CRI-DU-CHAT syndrome
|
De novo
|
termination
|
37
|
32
|
17 + 2
|
voluntary
|
dup of 22q11.21-q11.22
(21M-23M)
|
none
|
22q11.21q11.23(21,464,120 − 23,650,987)x3
|
22q11.2 dup syndrome
|
unknown
|
normal
|
38
|
27
|
16 + 5
|
mild risk of serum screening
|
del of 5q12.1
(59M-61M)
|
none
|
5q12.1(59,052,591 − 60,864,744)x1
|
uncertain significance
|
mother
|
normal
|
39
|
27
|
17
|
high risk of serum screening
|
dup of 10q23.1-23.2
(82-89M)
|
none
|
10q22.3-23.2(81,674,866 − 88,970,446)x3
|
likely pathogenic
|
De novo
|
termination
|
40
|
27
|
25 + 4
|
Increased bowel echo and widened lateral ventricle
|
del of 15q11.2-q12
(24-27M)
|
normal
|
15q11.2q13.1(23,300,172 − 28,536,634)x1
|
angelman syndrome、prader-Willi syndrome
|
De novo
|
termination
|
41
|
27
|
21
|
voluntary
|
dup of 3q12.3-q13.11
(101-104M)
|
normal
|
3q12.3q13.11(101,694,516 − 104,402,138)x3
|
uncertain significance
|
mother
|
normal
|
42
|
24
|
23+ 3
|
mild risk of serum screening
|
dup of 17p12-p11.2
(14-16M)
|
none
|
17p12(14,099,504 − 15,424,086)x3
|
17p12 recurrent (HNPP/CMT1A) region (includes PMP22)
|
mother
|
normal
|
43
|
23
|
23
|
Maternal mental retardation
|
del of 17q12
(34-36M)
|
normal
|
17q12(34,822,465 − 36,410,720)x1
|
17q12 recurrent del syndrome
|
Mother(mental retardation)
|
|
44
|
39
|
15 + 55
|
History of adverse pregnancy
|
del of 4q12-q13.1
(53-62M)
|
none
|
4q12(52,920,475 − 59,495,539)x1
|
likely pathogenic
|
De novo
|
termination
|
45
|
35
|
13 + 3
|
voluntary
|
dup of 17p12
(14M-16M)
|
normal
|
3q28(189,409,398 − 189,571,893)x1,17p12(14,087,918 − 15,413,862)x3
|
17p12 recurrent (HNPP/CMT1A)region
|
unknown
|
normal
|
46
|
33
|
18
|
high risk of serum screening
|
del of Xp22.32-p22.31(6M-8M)
|
none
|
Xp22.31(6,455,151-8,141,076)x1
|
pathogenic
|
mother
|
normal
|
47
|
25
|
20
|
mild risk of serum screening
|
dup of 1p13.2-p12
(116-119M)
|
none
|
1p13.2p12(115,582,990 − 120,527,348)x3,
15q11.2(22,770,421 − 23,276,605)x1
|
uncertain significance
|
15q11.2- mother 1p13.2p12-de novo
|
normal
|
48
|
29
|
20
|
Maternal mental retardation
|
del of Xq27.2-q27.3(143M-147M)
|
none
|
Xq27.3q28(142,954,184 − 147,171,818)x0
|
likely pathogenic
|
unknown
|
Continue pregnancy
|
49
|
35
|
15 + 6
|
Advanced age
|
del of 9p21.3-p21.1(25M-30M)
|
none
|
9p21.3p21.1(24,796,507 − 30,288,265)x1
|
uncertain significance
|
mother
|
normal
|
50
|
28
|
22 + 5
|
high risk of serum screening
|
dup of 7q32.3
(132M-135M)
|
none
|
4q33q34.3(170,186,543 − 181,620,422)x2 hmz
|
uncertain significance
|
unknown
|
normal
|
51
|
35
|
22
|
voluntary
|
del of Xq24q25
(117-122M)
|
none
|
Xq24q25(117,865,893 − 122,724,000)x1
|
uncertain significance
|
unknown
|
normal
|
52
|
30
|
12
|
voluntary
|
dup of 8p23.2
(3-5M)
|
none
|
8p23.2(3,687,399-5,950,104)x4
|
uncertain significance
|
unknown
|
normal
|
53
|
28
|
20 + 3
|
High risk of serum screening
|
low risk
|
46,XX,del(4)(p14)
|
none
|
pathogenic
|
De novo
|
Neonatal pneumonia,low weight, congenital heart disease,hyperbilirubinemia
|