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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