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Table 3 List of nineteen abnormal karyotype results (continued)

From: Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Case no

Karyotype STC

Karyotype LTC

≥ 36 years

Karyotype

AF

Follow-up testing

Type

Pregnancy

follow-up and clinical outcome

DNA analysis or metabolic testing

Aberration in LTC, not in STC

        

11

46, XX[4]

47, XX, +7[8]/46, XX[21]

no

 

-

 

TOP*

affected

12

46, XX[50]

92, XXXX[23]/46, XX[27]

no

 

-

 

partus 33 weeks, livebirth, no congenital anomalies

not affected

13

46, XY[4]

47, XY, +?18[2]/

46, XY[37]

yes

 

-

 

unknown

affected

14

46, XX[8]

47, XX, +?20[2]/46, XX[7]

yes

 

-

 

TOP*

affected

Aberration in STC and LTC

        

15

45, X[3]/46, XX[1]

45, X[1]/46, XX[8]

yes

 

skin biopsy post partum 46, XX

CPM III

TOP*

affected

16

45, X[1]/46, XY[2]

45, X[1]/46, XY[28]

no

 

-

 

continued, livebirth, no congenital anomalies

not affected

17

46, X, inv(Y)[5]

46, X, inv(Y)[9]

no

 

inv(Y)pat

 

TOP*

affected

18

47, XX, +mar[1]/

46, XX[3]

47, XX, +mar[1]/

46, XX[28]

no

 

parental karyotype normal

 

TOP

affected*

Amniotic fluid sample

        

19

-

-

yes

45, X[10]/

47, XXX[9]/

46, XX[2]

karyotype blood post partum 45, X[9]/

47, XXX[33]/46, XX[8], normal phenotype

 

continued, livebirth, no congenital anomalies

not affected

  1. * TOP: termination of pregnancy based on affected pregnancy (positive DNA analysis or metabolic testing); CPM: confined placental mosaicism