Background
Methods
Study design and participants
Procedures
Outcome
Statistical analysis
Results
Demographic characteristics
Cases (trios) | Fetal sex (male:female) | Gestational week (weeks) | Maternal age (years) | Paternal age (years) | |
---|---|---|---|---|---|
Total | 959 | 0.58:0.42 | 23.6 (22.25–26.4) | 28 (26–31) | 32 (29–34) |
Cardiac | 265 | 0.60:0.40 | 24 (22.6–24.6) | 28 (26–31) | 32 (30–35) |
Chest and respiratory tract | 43 | 0.49:0.51 | 24.1 (23.15–26.15) | 28 (26–30) | 31 (30–33.5) |
CNS | 116 | 0.53:0.47 | 26.45 (23.075–31.2) | 28.5 (26–31) | 32 (29–35) |
Facial | 127 | 0.69:0.31 | 23.2 (22.4–24.35) | 28 (25.5–30) | 31 (29–34) |
Gastrointestinal tract and AW | 42 | 0.57:0.43 | 24 (14.5–28.125) | 29 (27–30) | 32 (30–34) |
Genitourinary | 94 | 0.62:0.38 | 24.3 (23–29.45) | 29 (27–31) | 32 (29–34) |
Hydrops | 31 | 0.58:0.42 | 24.2 (21.5–30.5) | 28 (25–31) | 32 (28–35) |
Increased NT | 20 | 0.60:0.40 | 13 (12.5–13.3) | 28 (27–30) | 31 (30–34) |
Skeletal | 94 | 0.53:0.47 | 23.8 (22.15–25.975) | 29 (26–32) | 32 (30–35) |
Multisystem | 127 | 0.54:0.46 | 22.6 (14.45–24.25) | 28 (25–30) | 31 (29–33) |
Sampling
Diagnostic yields
Cases (trios) | Double diagnosisa | CNV | Genetic variants | Diagnostic rate (%) | |
---|---|---|---|---|---|
Cardiac | 265 | 3 | 30 | 38 | 26.79 |
Chest and respiratory tract | 43 | 0 | 3 | 1 | 9.30 |
CNS | 116 | 0 | 8 | 11 | 16.38 |
Facial | 127 | 1 | 7 | 9 | 13.39 |
Gastrointestinal tract and AW | 42 | 1 | 5 | 2 | 19.05 |
Genitourinary | 94 | 0 | 6 | 7 | 13.83 |
Hydrops | 31 | 2 | 3 | 3 | 25.81 |
Increased NT | 20 | 0 | 3 | 4 | 35.00 |
Skeletal | 94 | 3 | 9 | 27 | 41.49 |
Multisystem | 127 | 0 | 25 | 16 | 32.28 |
Total | 959 | 10 | 99 | 118 | 23.67 |
CNV and variant consequence
Frequency of diagnosis
Additional information of double diagnosed fetal
Prenatal imaging findings | Gene | Location | Consequence | Inheritance | |
---|---|---|---|---|---|
FetalC0247 | Facial | OR4M2, OR4N4, POTEB3, OR4N4C, POTEB | Chr15, 21422120–22429653 | 1.01 mb duplication | De novo |
STAG2 | ChrX, 124062902 | Missense variant | Hemizygous male fetus maternal inherited | ||
FetalC0290 | Hydrops | TSC2, PKD1 | Chr16, 2084905–2118880 | 33.98 kb deletion | De novo |
NIPBL | Chr5, 37007445 | Missense variant | De novo | ||
FetalC0309 | Skeletal | FOXD4L6, SPATA31A6, CBWD6, CBWD6, CNTNAP3B | Chr9, 40992379–42569325 | 1.58 mb duplication | De novo |
KIF22 | Chr16, 29802813 | Missense variant | De novo | ||
FetalC0450 | Cardiac | GGTLC3, RIMBP3, TSSK2, GSC2, SLC25A1, MRPL40, C22orf39, CLDN5, SEPTIN5, GP1BB, RTL10, TRMT2A, CCDC188, THAP7, SLC7A4, TUBA8, USP18, TMEM191B, DGCR6, PRODH, DGCR2, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SERPIND1, SNAP29, CRKL, LZTR1, P2RX6, LRRC74B, ESS2, CLTCL1, HIRA, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3 | Chr22, 18108288–21085716 | 2.98 mb deletion | De novo |
CHD4 | Chr12, 6587859 | Missense variant | De novo | ||
FetalC0497 | Cardiac | FOXD4L6, SPATA31A6, CBWD6, CBWD6, CNTNAP3B | Chr9, 41034878–42569325 | 1.53 mb duplication | De novo |
CHD7 | Chr8, 60828661 | Splice acceptor variant | De novo | ||
FetalC0759 | Skeletal | OR4M2, OR4N4, POTEB3, OR4N4C, POTEB | Chr15, 21165579–22279173 | 1.11 mb duplication | De novo |
BBS5 | Chr2, 169482248 | Splice region variant | Homozygous inherited | ||
FetalC0862 | Cardiac | ADAMTS2 | Chr5, 179343692–179345442 | 1.75 kb duplication | Compound heterozygous inherited |
ADAMTS2 | Chr5, 179125137 | Missense variant | Compound heterozygous inherited | ||
FetalC1438 | Hydrops | GTF2H2C, SERF1B, SMN2 | Chr5, 69582366–70785650 | 1.20 mb deletion | De novo |
FLNB | Chr3, 58078804 | Missense variant | De novo | ||
FetalC1533 | Skeletal | H3-2, PPIAL4E, FAM72C, NBPF15 | Chr1, 143449487–144450895 | 1.00 mb deletion | De novo |
FGFR3 | Chr4, 1804392 | Missense variant | De novo | ||
FetalC1595 | Gastrointestinal tract and AW | CYP21A2 | Chr6, 32013119–32044190 | 31.07 kb duplication | Compound heterozygous inherited |
CYP21A2 | Chr6, 32038507 | Missense variant | Compound heterozygous inherited |