Trouble getting pregnant

A range of chromosome and genetic conditions may cause difficulties in getting pregnant. The following tests offered by our laboratory may be helpful in determining if there is a genetic reason for infertility.

• Blood chromosome test
• Chromosome Y Microdeletion test
• Cystic Fibrosis male carrier test
• Female Fragile X carrier test

Blood chromosome test:

Some individuals who are otherwise perfectly healthy can carry structural chromosome rearrangements (e.g reciprocal translocation) that can cause difficulties in getting pregnant, cause miscarriage, or result in the birth of a child with abnromalities. These couples have a greater chance of producing an abnormal pregnancy as a result of the chromosome rearrangement they carry.

Among specific infertility subgroups, the rate of chromosome abnormalities can be even higher:

Infertility subgroups	Proportion (%)
Infertile couples	0.6
Intracytoplasmic sperm injection (ICSI)	3.2
Implantation failure (>10 failed IVF cycles)	3.2
Miscarriage (>2 first trimester abortions)	up to 9.0

Your doctor can arrange a chromosome test for you and your partner. A blood sample is required, see Blood Sample Collection.

Chromosome Y Microdeletion test:

Loss of genetic material (AZF / DAZ genes) on the Y chromosome in males can cause problems in reduced sperm production. A Y chromosome microdeletion test is available to diagnose this problem. If sperm can be collected and pregnancy achieved by IVF, any male child will inherit this fertility problem.

Your doctor can arrange a chromosome Y Microdeletion test. A blood sample is required, see Blood Sample Collection.

Cystic fibrosis male carrier test:

Males with the Cystic fibrosis (CF) mutations can have absence of the vas deferens, the tubes that carry the sperm from the testes to the ejaculate. A comprehensive 32 mutation CF screening panel can identify this cause of infertility. This test picks up the mutations that cause over 90% of Cystic fibrosis cases.

NOTE: it is not possible to test for all CF mutations as there are >1000 known mutations.

Your doctor can arrange a CF test for you. An easy buccal or mouth swab is required, see Buccal Swab Sample Collection.

Female Fragile X carrier test:

There are some reports that women who carry the gene that can cause Fragile X syndrome in their offspring, can suffer from premature menopause. A Fragile X test is available for the most common gene size.

Your doctor can arrange a Fragile X carrier test for you. A blood sample is required, see Blood Sample Collection.