PMC6037148_01
Morphologic ultrasonogram of a 21+1-week male fetus with 19+5-week-ultrasound parameters.. Notes: Bone morphology and mineralization characteristics were normal. (A) From left to right: FL 27-27 mm, tibia 25-26 mm, and fibula 25-25 mm. (B) From left to right: humerus 25-26 mm, ulna 25-26 mm, and radius 25-26 mm. (C) Single umbilical artery. (D) In Week 24, the transverse cerebellar diameter was 23 mm (<p5). Next, characterization of the duplication was carried out by cytogenetic and molecular analyses. (E) Conventional G-banding of chromosome 15. The duplicated chromosome is on the right. (F) CGH array. Reduced dosage for probes is shown to the left (red) of the control two-copy line and increased dosage is shown to the right (blue).. Abbreviation: CGH, comparative genomic hybridization.
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Although her first trimester combined screening risk was low, the ultrasound scan showed a male fetus with short long bones (-2.5 standard deviation [SD]), according to Chitty and Altman (femur length [FL]: 27-27 mm, tibia: 25-26 mm, fibula: 25-25 mm, humerus: 25-26 mm, ulna: 25-26 mm, radius: 25-25 mm) but with normal morphology and mineralization signs, corresponding to a 19+5 gestation week fetus, with an estimated weight of 289 g (according to Hadlock tables, biparietal diameter [BPD] 45 mm, head circumference [CC] 174 mm, abdominal circumference [AC] 147 mm) (Figure 1A and B). The remaining anatomy was normal except for a single umbilical artery (Figure 1C). At Week 24, the fetus still showed 2-week-younger measurements, and the transverse cerebellar diameter was 23 mm, below the 5th centile, according to Snijders and Nicolaides (Figure 1D). The fetus karyotype showed a 15q duplication, visible by conventional G-banding (Figure 1E). Comparative genomic hybridization (CGH) array (KaryoNIM  Prenatal 60K; NIMGenetics, Madrid, Spain) was carried out to determine the size and extent of the duplication (Figure 1F).