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Table 3 Double diagnosis identified in a cohort of fetuses with structural anomalies (increased NT included)

From: Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

  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
  1. Data were listed by identification numbers in the experimental lab of Berry Genomics
  2. AW abdominal wall