Sample Type (N = 25), CV: 9, Amniotic Fluid: 16 | |||||||
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Case No. | Reason for Referral for aCGH | U/S Findings | Sample Type | Karyotype | aCGH Result | Inh. | Array Result/Pregnancy Outcome |
1 | U/S abnormalities | Increased NT | CV | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
2 | U/S abnormalities | Hypoplastic Nasal Bone | AF | 46,XY | Dup, Dup, Del | Maternal | Two familial dups on chromosome 9 of 0.3 Mb and 0.15 Mb of unclear significance but considered to represent polymorphisms. A deletion on chromosome 17 of 1.1 Mb at the PMP22 gene consistent with HNPP. Healthy baby. |
3 | Familial balanced rearrangement | Normal | CV | 46,XX,inv(3)(p11.2q11.2)pat | Normal | Paternal | Normal constitution. Healthy baby. |
4 | Familial balanced rearrangement; U/S abnormalities | Hydronephrosis, Aortic arch | AF | 46,XX,inv(20)(q13.1q13.3)pat | Normal | Paternal | Normal constitution. Healthy baby. |
5 | Familial balanced rearrangement | Normal | CV | 46,XY,inv(2)(p11.2q34)mat | Normal | Maternal | Normal constitution. Healthy baby. |
6 | De novo balanced rearrangement; U/S abnormalities | Echogenic heart; Clinodactyly | AF | 46,XY,t(5;16)(q33;q24)dn | Normal | De novo | Normal constitution. Healthy baby. |
7 | De novo balanced rearrangement | Normal | AF | 46,XX,t(2;12)(q31;q13)dn | Normal | De novo | Normal constitution. Healthy baby. |
8 | De novo balanced rearrangement; U/S abnormalities | Increased NT | AF | 46,XX,t(3;14)(p13;q11.2)dn | Normal | De novo | Normal constitution. Healthy baby. |
9 | De novo balanced rearrangement; U/S abnormalities | Increased NT | AF | 46,XY,t(17;21)(p11.2;q22.3)dn | Normal | De novo | Normal constitution. Unknown pregnancy outcome. |
10 | De novo balanced rearrangement | Normal | CV | 46,XY,t(1;2)(q25;q21)dn | Del | De novo | De novo deletion on chromosome 1 of 0.2-1.35 Mb of uncertain clinical significance Elective termination of pregnancy. |
11 | De novo balanced rearrangement | Normal | AF | 46,XY,t(3;8) (p13;q24.22)dn | Normal | De novo | Normal constitution. Healthy baby. |
12 | De novo balanced rearrangement; U/S abnormalities | Short Femur | AF | 46,XX,t(11;13)(p10;q10)dn | Normal | De novo | Normal constitution. Unknown pregnancy outcome |
13 | U/S abnormalities | Myocardiopathy | CV | 46,XY | Normal | N/A | Normal constitution Elective termination of pregnancy. |
14 | U/S abnormalities | Nasal Bone hypoplasia; Cardiac Anomalies | AF | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
15 | U/S abnormalities | Tumor on left ear | AF | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
16 | U/S abnormalities | Bilateral Hydronephrosis; Pyelic right kidney | AF | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
17 | U/S abnormalities | Nasal bone hypoplasia; short limbs; echogenic bowel; FGR | AF | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
18 | U/S abnormalities | Short limbs | AF | 46,XY | Normal | N/A | Normal constitution Elective termination of pregnancy. |
19 | U/S abnormalities | Increased NT; talipes | CV | 46,XY | Normal | N/A | Normal constitution. Healthy baby. |
20 | U/S abnormalities | Spine deformities; talipes; short femur | CV | 46,XY | Normal | N/A | Normal constitution Elective termination of pregnancy. |
21 | U/S abnormalities | FGR; Single umbilical artery; Pyelic cyst | CV | 46,XX | Normal | N/A | Normal constitution. Healthy baby. |
22 | U/S abnormalities | Increased NT | CV | 46,XX | Normal | N/A | Normal constitution. Healthy baby. |
23 | U/S abnormalities | FGR | AF | 46,XX | Normal | N/A | Normal constitution. Healthy baby. |
24 | U/S abnormalities | Facial Cleft; Fetal abnormality | AF | 46,XX | Normal | N/A | Normal constitution Premature delivery at 29 weeks due to preeclampsia. No follow up possible at the moment. |
25 | U/S abnormalities | Increased NT | AF | 46,XX | Dup | Parents not available | Dup of 0.7 Mb found on chromosome 22, includes the Velocardiofacial/DiGeorge Syndrome region, consistent with the 22q11.2 microduplication syndrome. Pregnancy complications resulted in fetal death. |