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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 AgeAgeHusband’s AgeMethodologyOriginDeletionPrenatal Diagnostic IndicationsReference
173942Karyotype; FISHde novo46,XY.ish del(18)(p10pter)(tel18p-, dim D18Z1)advanced maternal age[9]
203238Karyotype; aCGHde novo13.87 Mb deletions from 18p11.21 to pterIncreased nuchal translucency (INT) (5.1 mm) and a 5.4 cm crown-rump length (CRL) at 12 weeks’ gestation[8]
1832NAKaryotype; aCGHde novo12.68 Mb deletions from 18p11.32-p11.21Second trimester maternal serum screening blood test: a high risk of Down syndrome (1:20)[8]
1831NANIPT; karyotype; SNP-arrayNA6.9 Mb deletions at 18p11.32p11.31 and 7.5 Mb deletions in 18p11.23p11.21INT 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]
232426Karyotype; FISH; microarraymaternal18 Mb deletion at 18q11.1-p11.32A 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]
242933Karyotype; FISH; CMANA4.5 Mb pure microdeletion at 18p11.32–11.31multiple fetal abnormalities: fetal semilobar holoprosencephaly, median cleft lip and palate, arhinia and tetralogy of Fallot[15]
193634Karyotype; FISH; aCGH; qf-PCRde novo14.06 Mb deletion at 18p11.32-p11.21advanced maternal age and sonographic findings of craniofacial abnormalities; Level II ultrasound at 19 weeks of gestation showed HPE and median facial cleft[16]
1335NAkaryotypede novo46,XX,del(18)(p11.2)a crown-rump length of 79 mm and an increased nuchal translucency thickness of 3.9 mm[17]
  1. Note: aCGH array-based comparative genomic hybridization, FISH fluorescent in situ hybridization, NA not available (absent or unrecorded), NIPT non-invasive prenatal testing, CMA chromosome microarray assay, qf-PCR quantitative fluorescent polymerase chain reaction, INT increased nuchal translucency