Karyotype test is the examination of chromosomes for number, shape and size. A normal individual has 46 chromosomes in each body cell, inherited 23 from mother and 23 from father. However, in some individuals, this number may be more or less. This chromosomal abnormality occurs when the sperm fertilizes an egg and makes an embryo. Embryo with chromosomal abnormality often does not implant to the uterus or pregnancy results in miscarriage. However, this baby may be born but may have some reproductive problems. Therefore, couples who are having difficulty conceiving or experiencing miscarriage should have a parental karyotype test.
The most common chromosomal disorder which causes male infertility is Klinefelter syndrome. Klinefelter syndrome also referred to 47,XXY is a syndrome where a male has an extra copy of the X chromosome. Klinefelter syndrome is diagnosed by a genetic test known as a karyotype. For patients who do not have sperm in semen analysis, a karyotype test should be performed for a detailed investigation. Karyotype test is done with a blood sample. The test takes an average of 10 to 12 days to complete.
With the development of assisted reproductive techniques, successful treatments are available for patients with Klinefelter Syndrome. Sperm can be found in many of the azoospermia patients with Klinefelter syndrome using the Micro- TESE method. Healthy pregnancy and live birth are possible using that sperm via IVF/ICSI.
