TABLE 2.
Overview of genetic diagnoses made for fetus with ultrasound anomalies who underwent rapid exome sequencing (rES)
| rES result | ||||||
|---|---|---|---|---|---|---|
| ID | Gene | Causative variant | Transcript ID | Inheritance | SNP‐array result | Syndrome |
| 1 | SAMD9 | c.2920G>A, p.Glu974Lys | NM_017654.3 | AD de novo | MIRAGE syndrome | |
| 2 | POMGNT1 | c.636C>T, (=) AND c.630G>T, p.Trp210Cys | NM_001243766.1 | AR mother and father | Walker‐Warburg syndrome | |
| 3 | PEX1 | c.2097dupT, p.Ile700Tyrfs*42 | NM_000466.2 | AR mother and father | Zellweger syndrome | |
| 4 | COL1A1 | c.3150_3158del, p.Ala1053_Gly1055del | NM_000088.3 | AD de novo | Osteogenesis imperfecta, lethal type | |
| 5 | PTPN11 | c.227A>T, p.Glu76Val | NM_002834.3 | AD de novo | Noonan syndrome 1 | |
| 6 | CHD7 | c.3301T>C, p.Cys1101Arg | NM_017780.2 | AD de novo | CHARGE syndrome | |
| 7 | KMT2D | c.696dupT, p.Glu233* | NM_003482.3 | AD de novo | Kabuki syndrome | |
| 8 | COL1A1 | c.2102G>T, p.Gly701Val | NM_000088.3 | AD de novo | Osteogenesis Imperfecta, lethal type | |
| 9 | Trisomy Chr22 in villi and amnion | |||||
| 10 | Deletion 4p16.3p15.31 | Wolf‐Hirschhorn syndrome | ||||
| 11 | Duplication 11q23.3q25 and duplication 22q11.1q11.21 | Emanuel syndrome | ||||
| 12 | Mosaic trisomy 16 (arr[16]x2 ~ 3 dn) | |||||
Abbreviations: AD, autosomal dominant; AR, autosomal recessive.