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Table 1 Prenatal microarray CGH case overview

From: Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Sample Type (N = 25), CV: 9, Amniotic Fluid: 16
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.
  1. CV, Chorionic Villus Sample; AF, Amniotic Fluid Sample; U/S, ultrasound abnormalities; FGR, Fetal growth retardation; aCGH, array Comparative Genomic Hybridization; dup, duplication; del, deletion; NT, Nuchal Thickening; Inh., Inheritance; N/A, Not Applicable