Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.
OBJECTIVE
To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies.


METHODS
Pregnant women carrying fetuses with a major structural abnormality were recruited at the time of invasive procedure for chromosome analysis. Only women whose fetuses had a normal karyotype (n = 50) were subsequently evaluated by array CGH using one of two arrays (1887 clones covering 622 loci or subsequently 4685 clones covering 1500 loci).


RESULTS
The mean gestational age of the fetuses was 24.5 weeks (range 11-38 weeks). The most prevalent anomalies were cardiac, central nervous system, skeletal, and urogenital. The median turnaround time for culturing and array CGH diagnosis was 18 days (range 2-72). Four of 50 fetuses had abnormal array results. One (2%) was clinically significant and three (6%) were inherited or benign variants.


CONCLUSIONS
Array CGH studies in fetuses with sonographic anomalies and normal metaphase karyotype detected clinically significant copy number alterations in 1 of 50 cases. This percentage (2%) is consistent with prior prenatal reports. Further studies are warranted to more precisely identify which fetal anomalies are associated with copy number alterations of clinical significance.
Division of Maternal-Fetal Medicine, Tufts Medical Center, Boston, MA, USA. lkleeman@tuftsmedicalcenter.org
Linda
L
Kleeman
Diana W
DW
Bianchi
Lisa G
LG
Shaffer
Emily
E
Rorem
Janet
J
Cowan
Sabrina D
SD
Craigo
Hocine
H
Tighiouart
Louise E
LE
Wilkins-Haug
D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal