Table 3.
Overview of cases with clinically relevant aberration revealed by diagnostic genetic testing after normal non‐invasive prenatal test (NIPT) result in 251 pregnancies with ultrasound (US) anomaly
| Case | Indication for genetic testing | Timing | Diagnostic genetic testing | Outcome | Classification of aberration | ||
|---|---|---|---|---|---|---|---|
| Timing | Test | Result | |||||
| 7 | MCA | 14 weeks | 17 weeks | QF‐PCR | 47,XY + 13 | IUFD (US at 17 weeks) | Causative |
| 8 | Hydrops fetalis | 12 weeks | Postnatal | QF‐PCR | 45,X | IUFD (US at 18 weeks) | Causative |
| 9 | NT 3.9 mm | 21 weeks | 32 weeks | Microarray | 14q32.2q32.33(101,220,548‐105,080,719) × 1 dn, 3.9 Mb | Unilateral hydrothorax (US at 32 weeks), anal atresia, some mild dysmorphisms | Causative |
| 10 | IUGR | 23 weeks | Postnatal | Microarray |
4p16.3p15.33(68,346‐14,875,532) × 1 dn, 14.8 Mb(Wolf–Hirschhorn syndrome) 10q26.11q26.3(120,145,796‐135,427,144) × 3 dn, 15.3 Mb |
Severe dysmaturity, microcephaly, some dysmorphisms | Causative |
| 11 | MCA | 30 weeks | Postnatal | DNA | Homozygous pathogenic mutation in RNU4ATAC gene (LIT1) (MOPD1) | Severe dysmaturity, microcephaly, severe intracerebral abnormalities, VSD, several dysmorphisms, bilateral rocker bottom feet | Causative |
| 12 | Omphalocele | 14 weeks | Postnatal | Microarray |
16p11.2(29,567,296‐30,178,000) × 3 dn, 610 kb(susceptibility locus) DNA hypomethylation in KCNQ1OT1 gene (Beckwith–Wiedemann syndrome) |
Omphalocele, unilateral duplex collecting system and ureterocele (US at 18 weeks), earlobe creases | Susceptibility locus; causative |
| 13 | Echogenic bowel | 21 weeks | 23 weeks* | DNA | Homozygous pathogenic mutation in CFTR gene (deltaF508) (cystic fibrosis) | TOP | Causative |
*
Parental carrier screening confirmed presence of maternal and paternal pathogenic mutations in CFTR gene (deltaF508).
IUFD, intrauterine fetal demise; IUGR, intrauterine growth restriction; kb, kilobases; Mb, megabases; MCA, multiple congenital anomalies; MOPD1, microcephaly osteodysplastic primordial dwarfism Type I; NT, nuchal translucency thickness; QF‐PCR, quantitative fluorescent polymerase chain reaction; TOP, termination of pregnancy; VSD, ventricular septal defect.