Genetic counseling FAQ

1. When is genetic counseling needed? Couples with a history of adverse births or adverse family history, such as the presence of recurrent miscarriages, stillbirths, infant deaths, distinguishable physical or mental abnormalities, and diagnosed genetic disorders, require genetic counseling. Some cases of multi-year primary infertility also require attention to genetics. 2. Can assisted reproductive technology itself cause an increase in genetic disorders? According to data from the French National IVF Registry (FIVNAT) in the 1990s, the malformation rate of offspring born from assisted reproductive technology is about 2%, and follow-up suggests that height, weight, and learning are not different from those expected. The proportion of chromosomal abnormalities in the offspring born by ICSI due to male factor is slightly increased, mostly sex chromosomal abnormalities, which may be related to abnormalities in the parental gametogenesis mechanism or abnormalities in fertilization and oogenesis. PGD can screen embryos for some Mendelian genetic diseases to avoid the birth of affected children, and the follow-up period is still short, but it does not show a tendency to cause other defects. 3. How to avoid the recurrence of genetic disorders through assisted reproduction techniques? Some monogenic genetic diseases with known causative genes and chromosomal abnormalities can be avoided by pre-implantation genetic diagnosis (PGD), also known as “third generation IVF”. 4. Why do doctors say that a normal baby can be born when the chromosome report is different from the normal karyotype? Through years of clinical observation, some chromosomal abnormalities that have been found to have a poor prognosis are considered to be polymorphic, the most common being inversion of chromosome 9 and variation in the length of the long arm of the Y chromosome. In addition, some patients with balanced translocations can produce a different proportion of normal gametes. 5. When is the likelihood of having a normal child so low that adoption or sperm/egg donation should be considered? If there is an abnormal sperm-egg production mechanism, regardless of whether it is genetically related or not, fertility will be difficult. For example, a father or mother with a 21-21 Robertson translocation, i.e., two chromosomes sharing a single chromosome 21, may have a normal phenotype, but the vast majority of his or her embryos will be trisomy 21 or monosomy 21, with the former being a child with Down syndrome and the latter stopping development in embryo. It is extremely unlikely that a trisomic self-help child will be born with a normal phenotype. At this point, the doctor will recommend considering adoption or applying for donor sperm/egg supply to avoid repeated miscarriages or the birth of a Down’s child. 6. In addition to karyotype, what else should be considered to have a healthy child? In addition to the karyotype of the parents, it is also necessary to exclude the influence of physical, chemical and biological harmful factors, and in special cases to pay attention to the essential nutrients of the mother, immune status, endocrine status and the possibility of maternal and child blood group incompatibility.