Portfolio of services

Genetics consultation

Reasons for consultation

• Children with - or family history of children with - multiple malformations
• Intellectual disability / developmental delay
• Known or suspected metabolic disorder: neonatal deaths, weight loss, visceromegaly, loss of evolutionary milestones
• Common RN defects, such as lip and / or palatal cleft, neural tube defects, bot foot, congenital heart disease.
• Children with unusual appearance, especially accompanied by lack of weight gain or non-optimal psychomotor development
• Primary amenorrhea, azoospermia, infertility or abnormal sexual development
• Known family chromosomal abnormality
• Families with known hereditary conditions and / or recurrence questions
• History of any disease, occurring in a family, especially hearing loss, blindness, neurodegenerative disorders, short stature, premature heart disease, immunodeficiency, hair disorders, skin, bones
• History of repeat abortions / fetal abortions
• Couples with inbreeding
• Couples with prenatal diagnosis questions for any diagnosis

Frequently asked questions in the genetics consultation

• What is the diagnosis and what does it mean?
• Is there treatment?
• Why did it happen
• Is there any test to find out who is carrying the condition?
• Is there a possibility of prenatal diagnosis?
• What are the prenatal appropriate diagnostic procedures and their risks?
• How accurate is prenatal diagnosis?
• What symptoms give the problem?
• What is the treatment for this situation?
• What other specialists do we need?
• Can a person who does not have the condition pass it on to their children?
• Could my other children or siblings be affectionate?
• Are there services, programs for those who have this situation?
• Where can we get additional information about this condition?
• How can we reach out to others in a similar condition?
• What research is being done and where?

How do you work in a clinical genetics consultation? Diagnostic process

Analysis

It is the cornerstone in the dysmorphological diagnosis. Children with multiple congenital anomaly syndromes may exhibit a wide variety of individual disorders that are highly confused and difficult to understand.

It is first necessary to detect and then identify all the various abnormalities before being able to link them to some already more comprehensive diagnostic patterns.

• History:
  • Make the family tree for at least three generations
  • Pregnancy
  • Birth
  • Hello
  • Growth
  • Psychomotor development
• Evaluation of previous radiological and analytical studies
• Physical examination:
  • Anatomical regions
  • Bodies
  • Mesures
  • Photographs and filming
• Laboratory tests
• Radiological studies
• Other:
  • Family investigations
  • Other consultants: neurology, cardiology, psychology (behavioral phenotype), ophthalmology, ...
  • Evolutionary observation

Synthesis

• Major criteria
• Comparison with known cases: person experience, literature, ...

Confirmation

Diagnostic tests:

• Chromosomal analysis
• X-chromosome fragility study
• Neuroimaging studies
• Metabolic studies
• Skeletal series
• Molecular DNA studies
• Metabolic studies for lysosomal, peroxisomal and mitochondrial disorders

Intervention

• Treatment
• Consell
  • Etiology
  • Prognosis
  • Risk of recurrence

Tracking

• Family study
• Medical guide
• Diagnostic correction
• Advice for the individual affection
  • Complications
  • Prognosis
  • Reproductive options
Choose the action that is most appropriate for them, based on their risk, family type, ethical and religious principles and act according to their decision.
• Perform the best approach to the person's problem and the risk of recurrence of this disorder.

Multidisciplinary units

Unit for the care of people with a genetic-based cognitive and behavioral disorder

It consists of a neuropediatist, a neuropsychologist, a clinical geneticist, a geneticist (Genetic Laboratory) and an endocrinologist of the Pediatric Medicine Service.

The diagnosis of patients with cognitive deficits and other neurological dysfunctions has undergone substantial changes, due to advances in molecular genetics techniques. In many cases, we find that together with mental retardation there are physical manifestations and a specific behavioral phenotype or behavioral phenotype, which has proved to be of diagnostic utility as well as prognostic interest.

The main objectives of the Unit are the study and comprehensive care of the affected people, in their different aspects: clinical and laboratory diagnosis, medical follow-up protocols, neurological assessment, psychological evaluation, genetic counseling.

Discussion of each professional's observation and analysis allows for the diagnosis of new cases and joint follow-up periodically enriches the knowledge of these minority diseases.

Prenatal Diagnostic Unit

Formed by: Joan Badia (neonatologist), Neus Baena (biologist), Rosa Bella (pathologist), Manolo Corona (obstetrician), Elisabeth Gabau (clinical geneticist), Cesar Martín (pediatric radiologist), Paco Mellado (obstetrician), Rosa Perich ( pediatric cardiologist), Salvador Rigol (pediatric surgeon), Laura Serra (obstetrician), Miriam Guitart (biologist, head of the genetic laboratory).

The geneticist can answer questions such as the natural history of the disorder under consideration, the possibility of prenatal diagnosis, or the immediate care plan the baby will need.

The availability of prenatal diagnosis gives couples who otherwise would not have had a choice, such as preparing to receive a child with a malformation problem or ending a gestation with a severely affected fetus. For couples at high risk for having children with serious illnesses, prenatal diagnosis allows them to qualify for pregnancy.

The information obtained with prenatal diagnosis can be important for the obstetrician in the management of gestation and childbirth, as will the pediatrician, neonatologist and geneticist in the immediate care that the newborn child should have. This information can also help parents prepare for the birth of a child with a particular defect.

The clinical geneticist within the prenatal diagnostic unit will be involved in different levels of the care process.

1. In the detection of couples with an increased risk of genetic disorder in their offspring.
2. In the differential diagnosis of prenatally detected defect, it is the person who will transmit the information to the partner.
3. At the close of the postnatal case, whether it is a newborn or in the event of a termination of pregnancy.

Always offering the genetic counseling, with the utmost clarity, so that the couple can decide between the different options that they have.