Table 2.
Ultrasonography findings, karyotype and chromosomal microarray results for the prenatal patients.
| # | Weeks’ Gestation/ Invasive Procedure | USG Findings | Initial Karyotype | CMA Result (GRCh37/hg19] | Size | Type of Anomaly (gain/loss) | Parental Origin of Imbalance |
|---|---|---|---|---|---|---|---|
| Translocations | |||||||
| 22a | 24/CVS | NT (5 mm) | 46,XX,t(2;4)(p23;q31.1) | normal | – | – | – |
| 23a | 21/AC | abdominal cysts; polyhydramnios | 46,XY,t(10;16)(q23.2;q13) | 10q23.1(86441275-87680071)x1 | 1.2 Mb | loss | de novo |
| 24a | 24/AC | dilated intestine; EIF | 46,XX,t(7;12)(q36;q15) | normal | – | – | – |
| 25a | 17/AC | CPCs; fetal intracranial cysts | 46,XY,t(2;3)(q31.2;q27.32) | normal | – | – | – |
| 26a | 19/AC | CPCs | 46,XX,t(3;16)(p21.3q11) | 16p11.2(28220816-33816801)x3 | 5.5 Mb | gain | maternal |
| 27a | 23/AC | SUA; HEB; increased cardiothoracic ration | 46,XY,t(5;13)(q15;q22) | normal | – | – | – |
| 28a | 20/AC | bilateral ventriculomegaly; hydrochephalus | 46,XX,t(8;16)(q24.1;q12.1) | normal | – | – | – |
| 29b | 24/AC | asymmetric ventriculomegaly | 46,XY,t(15;17)(q24.1;q21.3)pat | normal | – | – | – |
| 30b | 22/FBS | bilateral pes equinovarus; amniotic band sequence | 46,XY,t(11;15)(q13.3;q25)pat | normal | – | – | – |
| Inversions | |||||||
| 31b | 23/FBS | situs inversus totalis, CHD | 46,XY,inv(12)(p11.23q15)mat | normal | – | – | – |
| 32b | 22/AC | anhydramnios; laryngeal atresia; bilateral renal agenesis; SUA; absence/hypoplasia of lower extremities; ambiguous genitalia | 46,XX,inv(7)(q11.2q32)mat | normal | – | – | – |
| 33b | 24/FBS | ascites; polyhydramnios; IUMF; increased cardiothoracic ratio; thick placenta | 46,XX,inv(6)(q21.2q26)pat | normal | – | – | – |
| Complex Chromosome Rearrangements | |||||||
| 34a | 23/FBS | IUGR; ambiguous genitalia; micropenis; hand and foot deformities; ASD | 46,XY,t(1;9;11)(1pter→1q43: :9p22.2→9pter;11pter→ 11p11.22::9p21→9qter) | normal | – | – | – |
USG: ultrasonography; CMA: chromosomal microarray; CVS: chorionic villus sampling; NT: nuchal translucency; AC: amniocentesis; EIF: echogenic intracardiac focus; CPCs: choroid plexus cysts; SUA: single umbilical artery; HEB: hyperechogenic bowel; FBS: fetal blood sampling; CHD: congenital heart failure; IUMF: in utero mort fetalis; IUGR: intrauterine growth restriction; ASD: autism spectrum disorder.
a De novo rearrangment.
b Familial rearrangement.