1 30 29 Chr18 5.06 Mb del (VOUS) 0–5,060,000 Multiple fetal malformations, ventricular septal defect, left renal polycystic dysplasia Chr20 13.66 Mb dup (VOUS) 0–13,660,000 ChrX 0.42 Mb del 30,900,000–31,320,000 DMD (XL), BMD (XL) 2 25 19+6 Chr8p 23.18 Mb del 100,000–23,180,000 GATA4 (AD) Missed abortion Chr8q 76.86 Mb dup (VOUS) 69,500,000–146,360,000 3 33 10 Chr4p16.3-p15.1 32.88 Mb del 100,000–32,880,000 Wolf-Hirschhorn syndrome Fetal arrest 4 27 9 Chr15q26.1-q26.3 11.32 Mb del 91,200,000–102,520,000 Missed abortion 5 25 6+5 Chr8p23.3-p22 18.22 Mb del 100,000–18,220,000 GATA4 (AD) Missed abortion 6 29 10 Chr2p24.3 0.8 Mb dup 13,520,000–14,320,000 • Missed abortion 7 28 8 Chr8q24.23-qter 28.56 Mb dup 100,000–28,660,000 PUF60 (AD), TRAPPC9 (AR) Chr13 q13.3-q14.11 7.82 Mb del 36,180,000–44,000,000 MADH9 (AD) Fetal arrest Chr13 q22.3-q33.1 25.06 Mb dup 77,800,000–102,860,000 MIR17HG (AD), SLITRK6 (AR) Chr13 q34 4.52 Mb dup 110,640,000–115,160,000 COL4A2 (AD) 8 27 13 Chr1 q24.3 0.26 Mb dup (VOUS) 171,720,000–171,980,000 Fetal edema syndrome with neck lymphatic hydrocystic tumor formation Chr6 p21.2 0.42 Mb dup 41,840,000–42,260,000 GUCA1A (AD), GUCA1B (AD) 9 29 23+4 Chr2pterp25.3 3.38 Mb del 20,000–3,400,000 MYT1L (AD) Multiple fetal malformations, abnormal cerebellar vermis development, ventricular septal defect, femur length smaller than gestational age, NT thickening Chr3qter 68.92 Mb dup (VOUS) 129,100,000–198,020,000 10 34 14+2 Chr8pterq11.23 53.9 Mb dup 100,000–54,000,000 Trisomy 8p syndrome •Multiple fetal malformations, left heart dysplasia, cleft palate, single umbilical artery, Tang sieving 21 critical risk 1/20 Chr21q11.2-q21.2 9.6 Mb del 15,040,000–24,640,000 TMPRSS15 (AR), LIPI (AD) 11 35 39+6 Chr2pterp25.3 3.34 Mb del MYT1L (AD) Stillbirth Chr3q21.3qter 69.02 Mb dup 3q29 microduplication syndrome 12 25 16 Chr15q11.2 0.34 Mb del 15q11.2 microdeletion syndrome; TUBGCP2 (AR), NIPA1 (AD), NIPA2 (AD), CYFIP1 (AD) Missed abortion Chr17q22 0.48 Mb dup (VOUS) ANKFN1, PCTP 13 28 7 Chr1q41qter 26.2 Mb dup 223,000,000–249,200,000 Trisomy 1q syndrome, CFAP298 (AR), CLDN14 (AR), SYNJ1 (AR), DONSON (AR), HLCS (AR), IFNAR2 (AR), IFNGR2 (AR), IL10RB (AR), JAM2 (AR), KCNE1 (AD,AR), TMPRSS15 (AR), PIGP (AR), KCNE2 (AD), KCNJ6 (AD), MRAP (AR), NRIP1 (AD), RUNX1 (AD), SOD1 (AR), SON (AD), APP (AD), DYRK1A (AD) Fetal arrest Chr21q11.2q22.2 25.36 Mb dup 14,600,000–39,960,000 14 42 7 Chr8q24.12 0.46 Mb dup 120,720,000–121,180,000 TAF2 (AR) Missed abortion 15 29 5 Chr5pterp14.1 28.06 Mb del 20,000–28,080,000 Cri du chat syndrome Missed abortion 16 25 34+1 Chr5q23.3 0.60 Mb dup (VOUS) 127,660,000–128,260,000 FBN2 (AD) Stillbirth Chr17p12 1.52 Mb del 14,100,000–15,620,000 PMP22 (AD) 17 26 9+5 Chr9q34.2qter 4.78 Mb dup; 136,240,000–141,020,000 ABCA2 (AR), ADAMTS13 (AR), ADAMTSL2 (AR), AGPAT2 (AR), TPRN (AR), CACNA1B (AR), CARD9 (AR), DBH (AR), INPP5E (AR), LHX3 (AR), MAN1B1 (AR), MRPS2 (AR), MYMK (AR), PMPCA (AR), SARDH (AR), GRIN1 (AD,AR), SOHLH1 (AD,AR), TUBB4B (AD), NSMF (AD), EHMT1 (AD), COL5A1 (AD), KCNT1 (AD), NOTCH1 (AD) Missed abortion ChrXp22.33p11.22 49.38 Mb del 2,720,000–52,100,000 Turner syndrome; X-linked ichthyosis (XL) 18 26 7 Chr7p22.3 1.86 Mb del 60,000–1,920,000 AHR (AR), AQP1 (AR), CRPPA (AR), DNAH11 (AR), FAM126A (AR), SNX10 (AR), FKBP14 (AR), GHRHR (AR), GPNMB (AR), HOXA1 (AR), HOXA13 (AD), HOXA2 (AD,AR), IL6 (AD), KLHL7 (AD,AR), PDE1C (AD), PPP1R17 (AD), TWIST1 (AD), CYCS (AD), GARS1 (AD), GSDME (AD), HNRNPA2B1 (AD), HOXA11 (AD), MAD1L1 (AD), FAM20C (AR), HEATR2 (AD), ACTB (AD), AIMP2 (AR), AP5Z1 (AR), BRAT1 (AR), CARD11 (AD,AR), EIF2AK1 (AD), IQCE (AR), KDELR2 (AR), LFNG (AR), MAD1L1 (AD), MRM2 (AR), PMS2 (AD,AR), RAC1 (AD), RNF216 (AR), TMEM106B (AD), WIPI2 (AR) Missed abortion Chr7p22.3p21.3 11.06 Mb dup 2,000,000–13,060,000 Chr7p21.3p14.3 18.82 Mb dup 13,080,000–31,900,000 19 32 13 Chr1p36.33p34.1 43.62 Mb dup 780,000–44,400,000 Chromosome 1p36 deletion syndrome Missed abortion 20 27 16+5 Chr4q32.3q34.3 13.58 Mb del 166,420,000–180,000,000 AGA (AR), HPGD (AR), NEK1 (AD), PALLD (AD), TLL1 (AD), VEGFC (AD) Fetal arrest 21 31 7 Chr8p22 0.44 Mb del 15,860,000–16,300,000 MSR1 (AD) Missed abortion 22 30 9+2 Chr14q24.3qter 29.78 Mb del 77,500,000–107,280,000 Distal monosomy 14q Missed abortion 23 27 5 Chr7p12.2qter 109.68 Mb del 49,440,000–159,120,000 Partial monosomy 7p Missed abortion Chr13q21.33qter 42.60 Mb del 72,500,000–115,100,000 Distal monosomy 13q 24 28 11+5 Chr4q32.1q35.2 31.18 Mb dup 157,960,000–189,140,000 Distal trisomy 4q Missed abortion Chr11 q23.3qter 16.94 Mb dup 118,000,000–134,940,000 Distal trisomy 11q 25 27 12 Chr9p13.3 5.82 Mb dup 280,000–6,100,000 19p13.3 microduplication syndrome Missed abortion 26 24 28 Chr16p11.2 0.56 Mb del 29,640,000–30,200,000 16p11.2 deletion syndrome (AD) Fetal ultrasound showed fetal thoracic vertebral abnormality 27 27 24 Chr22q11.21 2.56 Mb del 18,900,000–21,460,000 Velocardiofacial syndrome; DiGeorge syndrome (AD) Fetal ultrasound demonstrated a ventricular septal defect and right aortic arch