Rajni Fetal Medicine center, Ahmedabad, India

 
Case report:

A 34-year-old patient (G4P2) was referred to at 12 weeks. Double marker was suggested based on maternal age associated with nuchal translucency report. Based on biochemical marker & nuchal translucency, new calculated risk for trisomy 21 was 1: 800. 

Following findings on ultrasound:

Figure 1: Biometry of fetus with BPD. Normal central nervous system anatomy.

Figure 2, 3: Nuchal translucency & nasal bone measurement. Gastrointestinal tract appeared normal. Normal central nervous system anatomy.

Figure 4: Frontomaxillary facial angle of 85

Figure 5: DV–“A” wave positive.

Figure 6 – 3D confirming omphalocele

Video 1: Omphalocele 4D

Video 2: Omphalocele with cord attachment at top in 2D. Bladder, stomach, both kidneys and spine appear normal.

Combined with double marker, nuchal translucency and omphalocele, new calculated risk for trisomy 21, trisomy 18, and trisomy 13 were 1: 368, 1:29, and 1: 69, respectively.
Chorionic villus sampling was suggested & done. Karyotype was done.
Unbalanced translocation between chromosomes 9 & 15 leading to monosomy 15 was reported.
Patient opted for termination at 16-17 weeks.
Parental karyotype suggested for further work up.