Who Can Come For Genetic Counselling?

Genetic testing is of special importance concerning treatment options and preventative measures for the patient as well as for the offspring. Genetic factors include chromosomal abnormalities, single-gene mutations, and monogenic or multi-factorial syndromes and diseases. The diagnostic measures taken in couples that are involuntarily childless are usually initiated by the gynecologist, the urologist, or the human geneticist.

  • People with advanced maternal age
  • People with a h/o stillbirth/ neonatal death/ infant death
  • People with abnormal fetal USG/ abnormal maternal serum screening
  • People h/o of family member affected, or a child who is affected or any previous h/o of known genetic disorders
  • People with h/o hereditary cancer

Clinically, infertility is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. Evaluation of the genetic background by high-resolution modern techniques available is thus a necessity. Moreover, in the case of couples who are carriers of a particular disease, it becomes important to calculate the risk of inheritance of the disease in a child. Therapy in such cases is predominantly performed at specialized centers of assisted reproduction, as in 50% of cases, medical treatment of childlessness results in assisted reproduction.

Assisted reproduction would often involve choosing the embryo that would increase the chance of implantation. Such embryos should be genetically evaluated to reduce the chance of failure. Thus, the concept of PGS and PGD in the case of assisted reproduction.

Abortions have frequent incidences. One in six or one in seven confirmed pregnancies results in abortions. Most of these abortions occur within the first trimester. The reasons for abortions are various and cannot be disclosed in several cases. From the mother’s side, immunological or fetal factors are relevant. The most frequent reason for abortions is chromosomal anomalies, diagnosed in 50% to 60% of all abortions in the first trimester and 20% in the second trimester. These chromosomal abnormalities are usually trisomies, generally caused by chromosomal mal-aggregation.

Some publications request prenatal testing after the confirmation of the trisomy in an abortion, as the risk for recurrence is increased for the following pregnancies.

However, this small increase in risk has to be related to the basic risk and may apply to younger women. In contrast, this additional risk has only very limited practical significance in elderly women.