Table 2. Common genetic abnormalities associated with congenital diaphragmatic hernia.
| Category | Genetic abnormalities or syndromes | Additional prenatal findings |
|---|---|---|
| Aneuploidy | Trisomy 21, 18, 13, 22, 16 | Cardiac, CNS, craniofacial, shortened limbs, nuchal edema, hydrops, polyhydramnios |
| Tetrasomy 12p (Pallister-Killian) | Nuchal thickening, shortened long bones, polyhydramnios | |
| Translocation der (22) t(11:22) (q23:q11) | Nuchal thickening, craniofacial, FGR | |
| Monosomy 15q | Cardiac, facial, FGR, talipes, SUA | |
| Monosomy 4p (Wolf-Hirshhorn) | Cardiac, facial, digital, talipes, FGR | |
| 8p.23.1 deletion | Cardiac, FGR | |
| 1q41-1q42 deletion | Cardiac, craniofacial, cleft palate, talipes | |
| Xpter-Xp22 | Variable prenatal phenotype | |
| 16p11.2 microdeletion | Nonspecific prenatal phenotype | |
| 15q24 microdeletion | Craniofacial, digital, genital, FGR | |
| Mendelian disorders | Xq26 (Simpson-Golabi-Behmel) | Macrosomia, organomegaly, omphalocele, macroglossia, polydactyly, polyhydramnios |
| 11p15.5 (Beckwith-Wiedemann) | Macrosomia, omphalocele, macroglossia | |
| Xp | Cardiomyopathy, microphthalmia | |
| Xp22 (Goltz) | Syndactyly | |
| Xp22 (Craniofrontonasal) | Coronal synostosis, hypertelorism, digital | |
| 11p13 (Denys-Drash) | Nephromegaly, ambiguous genitalia | |
| Syndromes with unidentified genetic etiology | Fryns | Cardiac, facial, cleft lip/palate, neuronal heterotopias, limb, genitourinary |
| Gershoni-Baruch | Omphalocele, radial ray abnormalities | |
| Goldenhar | Cardiac, absent ears, cleft lip palate, vertebral | |
| Pentalogy of Cantrell | Ectopia cordis, bifid sternum, omphalocele |
CNS, central nervous system; FGR, fetal growth restriction; SUA, single umbilical artery.