Foetal Cord Blood Karyotype Blood

Chromosome analysis is appropriate for individuals with clinical features including infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or individuals with clinical features suggestive of an aneuploidy syndrome, including Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome. Chromosome analysis is appropriate for individuals with clinical features including infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or individuals with clinical features suggestive of an aneuploidy syndrome, including Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome. A normal karyotype (46,XX or 46,XY with no apparent chromosome abnormality) does not eliminate the possibility of abnormal clinical features such as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental factors (ie, teratogen exposure). Chromosomal mosaicism may be missed due to statistical sampling error (rare) and subtle structural chromosome abnormalities can occasionally be missed. This test may assist with the detection of common chromosome abnormalities.