PMC7970674_01
Ultrasonographic findings at 10 weeks: cystic hygroma in the area of fetal neck.
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Ultrasonogram was repeated and revealed that there was a single viable fetus, with a crown rump length of 40 mm, which was compatible with a 10-week gestation with a posterior cervical cystic hygroma (a cystic lesion diameter 25.6 x 3.7 x 33.2 mm3 in the area of fetal neck) (Figure 1).
Ultrasonographic findings at 16 weeks: (a) left cleft lip and (b) ventricular septal defect.
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Structural abnormalities were detected: left cleft lip (Figure 2(a)) and ventricular septal defect (VSD) (Figure 2(b)).
The G-banding karyotype analysis showed that there was 46, XX, +22, rob(22;22)(q10;q11.2) karyotype.
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The G-banding karyotype analysis showed that there was 46, XX, +22, rob(22;22)(q10;q11.2) karyotype in all the analyzed cells (Figure 3).
Fetal gross findings: microcephaly, low-set ears, up slant eyes, right preauricular nodule, left cleft lip and palate, and micrognathia.
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Upon the physical examination, the fetus was found to be female with microcephaly and had the following features: low-set ears, up slant eyes, right preauricular nodule, left cleft lip and palate, and micrognathia (Figure 4).