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 | Â | Â | Â | Â | Â | Â | Â | Â |
11 | 46, XX[4] | 47, XX, +7[8]/46, XX[21] | no | Â | - | Â | TOP* | affected |
12 | 46, XX[50] | 92, XXXX[23]/46, XX[27] | no | Â | - | Â | partus 33 weeks, livebirth, no congenital anomalies | not affected |
13 | 46, XY[4] | 47, XY, +?18[2]/ 46, XY[37] | yes | Â | - | Â | unknown | affected |
14 | 46, XX[8] | 47, XX, +?20[2]/46, XX[7] | yes | Â | - | Â | TOP* | affected |
Aberration in STC and LTC | Â | Â | Â | Â | Â | Â | Â | Â |
15 | 45, X[3]/46, XX[1] | 45, X[1]/46, XX[8] | yes | Â | skin biopsy post partum 46, XX | CPM III | TOP* | affected |
16 | 45, X[1]/46, XY[2] | 45, X[1]/46, XY[28] | no | Â | - | Â | continued, livebirth, no congenital anomalies | not affected |
17 | 46, X, inv(Y)[5] | 46, X, inv(Y)[9] | no | Â | inv(Y)pat | Â | TOP* | affected |
18 | 47, XX, +mar[1]/ 46, XX[3] | 47, XX, +mar[1]/ 46, XX[28] | no | Â | parental karyotype normal | Â | TOP | affected* |
Amniotic fluid sample | Â | Â | Â | Â | Â | Â | Â | Â |
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 | Â | continued, livebirth, no congenital anomalies | not affected |