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

Evangelidou, Paola; Sismani, Carolina; Ioannides, Marios; Christodoulou, Christodoulos; Koumbaris, George; Kallikas, Ioannis; Georgiou, Ioannis; Velissariou, Voula; Patsalis, Philippos C

doi:10.1186/1755-8166-3-24

Molecular Cytogenetics

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.

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

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ISSN: 1755-8166

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