Table 1 Data of the reported cases of prenatal diagnosis of pure 18p deletion syndrome
From: A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Gestational Age | Age | Husband’s Age | Methodology | Origin | Deletion | Prenatal Diagnostic Indications | Reference |
|---|---|---|---|---|---|---|---|
17 | 39 | 42 | Karyotype; FISH | de novo | 46,XY.ish del(18)(p10pter)(tel18p-, dim D18Z1) | advanced maternal age | [9] |
20 | 32 | 38 | Karyotype; aCGH | de novo | 13.87 Mb deletions from 18p11.21 to pter | Increased nuchal translucency (INT) (5.1 mm) and a 5.4 cm crown-rump length (CRL) at 12 weeks’ gestation | [8] |
18 | 32 | NA | Karyotype; aCGH | de novo | 12.68 Mb deletions from 18p11.32-p11.21 | Second trimester maternal serum screening blood test: a high risk of Down syndrome (1:20) | [8] |
18 | 31 | NA | NIPT; karyotype; SNP-array | NA | 6.9 Mb deletions at 18p11.32p11.31 and 7.5 Mb deletions in 18p11.23p11.21 | INT from a value of 3.3 mm for 4.8 cm of CRL at 11 + 4 weeks to 4.9 mm for 5.91 cm of CRL at 12 + 2 weeks of gestation | [8] |
23 | 24 | 26 | Karyotype; FISH; microarray | maternal | 18 Mb deletion at 18q11.1-p11.32 | A history of abnormal pregnancy, firstpregnancy ended in a miscarriage in the first trimester; lost the second pregnancy due to a hydatidiform mole; Sonography showed congenital foetus malformation, including fused cerebral hemispheres, dilatation of the cerebral ventricles, a single palpebral fissure and proboscis | [14] |
24 | 29 | 33 | Karyotype; FISH; CMA | NA | 4.5 Mb pure microdeletion at 18p11.32–11.31 | multiple fetal abnormalities: fetal semilobar holoprosencephaly, median cleft lip and palate, arhinia and tetralogy of Fallot | [15] |
19 | 36 | 34 | Karyotype; FISH; aCGH; qf-PCR | de novo | 14.06 Mb deletion at 18p11.32-p11.21 | advanced maternal age and sonographic findings of craniofacial abnormalities; Level II ultrasound at 19 weeks of gestation showed HPE and median facial cleft | [16] |
13 | 35 | NA | karyotype | de novo | 46,XX,del(18)(p11.2) | a crown-rump length of 79 mm and an increased nuchal translucency thickness of 3.9 mm | [17] |