Genetic Counseling
Appointment with the expert

Genetic Counseling (GC) has the purpose to help families through emotional and technical support. We explain and discuss the causes of some “genetic problems”, their occurrence and recurrence risks, as well as prevention, diagnosis and treatment possibilities.

Indications:
- Couple with habitual miscarriages, or repeated miscarriages;
- Guidance regarding use of medicines and other kinds of drugs during pregnancy;
- Risks of fetal chromosomal anomaly ;
- Congenital infections (Rubella, Toxoplasmosis and Cytomegalovirus);
- Couples with previous family and hereditary diseases;
- Consanguineous couples (somehow related);
- Pregnant women exposed to ionizating radiation (intense exposure to X rays or laboratorial radioactive tests, for example);
- Children with mental retard and/or congenital malformation;
- Pregnant women carrying babies with fetal malformation detected in routine prenatal ultrasonometry;
- Oligospermic or azoospermic men;
- women with amenorrhea (absence of menstruation).

Prenatal Diagnosis of Congenital infections
Toxoplasmosis, rubella and cytomegalovirosis are infections frequently transmitted to the fetus, and their prenatal diagnosis can be performed through ultrasonometry and amniotic fluid analysis. During the pregnancy period, the transmission to the fetus occurs in about 40% of the cases of acute manifestation of maternal toxoplasmosis.

In these cases, the newborn will show the disease in its clinical or sub-clinical forms. In rubella, the risk of fetal transmission is controversial, but higher than 50% in the first quarter of pregnancy. In cytomegalovirosis, there is a risk of 30 to 40% of fetal manifestation in any period of pregnancy. The collection of amniotic fluid (amniocentesis) is currently valued in the cases of suspect fetal infection by cytomegalovirosis and toxoplasmosis.

The collected fluid is used to isolate the etiologic agent and to detect its RNA (PCR). The simultaneous use of isolation and PCR increases the reliability of the results obtained.

Ultrasonometric control must be strict and performed at least once every quarter of pregnancy when there’s suspect of fetal infection. The risk of transmitting Toxoplasm gondii to the fetus can be minimized with the prescription of Spiramicine (Rovamycine, 3g/ day), from the moment of suspected infection to the term. When fetal infection is confirmed, the scheme Rovamycine – 3g a day for 3 weeks, alternated with 3 weeks of Pirimetamine – 50mg a day, plus Sulfadiazine 3g a day and folic Acid 5 mg a day.

Children with Mental Retard and Congenital Malformations

In daily medical practice, we frequently face children that have some alteration in the global development, whether in motion functions, whether in cognitive functions. Sometimes, in addition to these symptoms, it is also observed some dysmorphic changes and organs malformation, such as congenital cardiopathies and kidney malformation.

Most pediatric patients schedule appointments with the geneticist because they present neuro-psycho-motor development retard or phenotype deviations. Both children with slight development alteration and with dysmorphic alterations need assistance from a clinical geneticist so the expert can confirm or discharge the possibility of facing any syndrome, genetic or not.

Genetically-related syndromes can be chromosomal, monogenic or multi-factorial. Non genetic-determined diseases may be due to environmental causes as in intra-uterine exposures to teratogenic, infectious or medication agents.

Clinical evaluation also relies on anamnesis emphasizing family history and perinatal and the steps of psychomotor development, as well as regular and detailed physical examinations followed by anthropometric, dermatoglyphic and photographic studies. According to the information obtained, complimentary studies can be performed, when prescribed. The most common examinations are chromosomal study, urinary trial, serologic dosages, skeleton x-ray, kidney ultrasonometry, echocardiogram, computed tomography and magnetic resonance. The diagnostic conclusion, in case it allows establishing the risk of recurrence associated to a determined pathology, is used to guide couples throughout their reproductive plans.

Anyway, such conclusion is critical to guide the parents to live with the problem and to recognize the therapeutic resources that, IF unable to heal the disease, will provide better living conditions for the child.

In addition, it is fundamental to make a periodic follow-up with patients and their parents, especially in cases of monogenic disease for which molecular biologic diagnosis tools have not been developed. This enables the confirmation of the syndrome-related diagnosis and the anticipation, through prenatal diagnosis in a relatively early stage, if another child will present the disease after the birth.