Table 9.
CRITO results and sonographic findings in three no call (NC) cases.
Case | GA | Invasive Procedure | BMI | G–Band Result | CRITO-NIPT | Increased NT |
NT (mm) |
Sonographic Findings |
---|---|---|---|---|---|---|---|---|
NC1 | 30w0d | AC | 21.1 | 46,XY,del(13)(q13q21.3) | No Call | – | – | Thick prenasal skin, Low nasal bridge, Small NB, Micrognathia, Hypertrichosis, TR, Undescendant testis (left), Small mid phalanx of 5th digit (bilateral), Large head, Increased AF (AFI 23.68cm), T21 or Genetic disorder such as Costello or Cornelia de lange syndrome is suspected |
NC2 | 12w2d | CVS | 22.8 | 47,XY,+21 | No Call | + | 5.3 | Increased NT, Small CH, GE, bilateral, PE, NB defect, Micrognathia, Lowset ear, s/o Large VSD, TR moderate, Levocardia, RV>LV, Hyperechoic bowel, DV reverse, Short FL, T 21 is strongly suspected |
NC3 | 13w1d | CVS | 25.8 | 47,XY,+18 | No Call | + | 10.6 | Increased NT, CH, GE, Small NB, Micrognathia, Lowset ear, Hypoplastic ear, Cleft lip (left), Maxillary gap, Mild wrist contracture bilateral, RV>LV, TR, DV reverse, Bradycardia, T18 is strongly suspected |
GA; gestational age, AC; amniocentesis, CVS; chorionic villus sampling, BMI; body mass index, NT; nuchal translucency, NB; nasal bone, CH; cystic hygroma, GE; general edema, TR; tricuspid regurgitation, DV; ductus venosus, AF; amniotic fluid, AFI; amniotic fluid index, PE; pleural effusion, VSD; ventricular septal defect, RV; right ventricle, LV; left ventricle, T21; trisomy 21, T18; trisomy 18.