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INFORMATION

The Unit treats causes, development, diagnosis and treatment of genetic disorders or partially genetics.  It applies the knowledge of genetics to the medical practice.

WHAT DO WE TREAT?

Clinical Area

• Patients’ evaluation with congenital malformations and dysmorphology, associated or not with intellectual impairment.
• Patients’ evaluation mentally retarded using classic cytogenetical and high resolution techniques, molecular cytogenetical and working together with other laboratories, studies of metabolism congenital errors.
• Genetic advice for patients or patients’ families with chromosomal alteration diagnosed, hereditary illness diagnosed (including cancer) or a poly-malformative syndrome.

Prenatal Diagnosis

Prenatal diagnosis is a process which makes possible to value certain malformations of the fetal development presence.
One of the most common procedures is the amniocentesis, consisting in the extraction of certain quantity of amniotic fluid enclosing the child during his development. In this liquid, there are fetal cells, which are cultivated and analysed to detect chromosomal disorders.
It is performed from the week 15 of pregnancy, although sometimes it is possible to do it earlier, from the week 13.
The chromosomes are a few structures of elongated form that contains the legacy material. We normally have 46 chromosomes, which can be arranged in 23 pairs, coming one from each pair from the father and the other one from the mother.
If there are more or less chromosomes, disorders can be evident to the child physical or mental development. Down syndrome (trisomy 21 or the presence of an extra chromosome) is the most frequent chromosomal anomaly to be detected by means of the amniocentesis, but not the only one; others less frequent can origin also serious handicaps.
Who should consider the prenatal diagnosis option?
• Women who have 35 years or more at the end of her pregnancy. The risk of Down syndrome and other chromosomal disorders increase with age.
• Women who already have had a son with Down syndrome or another chromosomal disorder.
• Women who already have had a son with multiple congenital malformations and without having a final diagnosis.
• Women whose result in a blood test known as “triple screening” has been positive.
• Women who know that themselves or the father of his son is bearer of a chromosomal disorder.
• Couples who know that in his family exists some genetic illness whatever it is. Although most of them are not detected in a chromosomal analysis, if they can his presence can be discarded in the fetus by means of other specific tests. In this regard, the Genetic Advice is important.

Mother’s age (years) Down syndrome risk Chromosomal disorder global risk
25 years 1/1250 1/476
30 years 1/952 1/385
35 1/378 1/192
37 1/244 1/127
39 1/136 1/83
40 1/106 1/66
42 1/63 1/42
45 1/30 1/21
47 1/18 1/13
49 1/11 1/8

It is worth to remember that…
• The Down syndrome risk and another chromosomal disorders (as trisomy 18 or 13), increases with age.
• By the performance of a special test it can be, preliminary, prepared the most frequent chromosomal disorders analysis in 24-48 hours.
• The genetic advice can help parents to understand congenital disorder risk or the reappearance of a hereditary disease.

Genetic advice and diagnosis

Some persons abstain from having children when, or themselves or other members of his family, have had a son with some congenital defect or serious hereditary illness.
The genetic advice can help parents to understand the risk of the reappearance of this problem.
Even when a malformation is due to a genetic cause, it does not mean that necessarily the next child could have the same illness. The risk of this, in many cases, can be calculated quite exactly.
On the other hand, to have this idea is a common mistake because there are not any backgrounds of this problem in the patient’s family a genetic cause can be discarded.
The genetic advice is important also in case of diseases in the early adult life (hemochromatosis, Wilson’s disease, etc.), especially in the neurological area where many have a genetic factor.
In 20-50% of the cases of classic genetic diseases there is not any familiar precedent.
Who can benefit from the diagnosis and genetic advice?
• People who know a hereditary illness in their family, any type, including cancer and benign tumors.
• Patients, or their families, with congenital abnormalities with or without intellectual impairment.
• Women, of certain age (normally 35 years old), who want to have children, since with the age the possibility to conceive children with some chromosomal alteration increases.
• Families who have previously had a son with chromosomal alteration or a genetic disease.
• Consanguineous marriages, for example, between cousins.
• Couples who cannot have children or who have had two or more miscarriages.

MEDICAL TEAM

Dr. Bernar Solano, Juan Team leader
Más información

Dr Bernar Solano

-Licenciado en Medicina y Cirugía por la Universidad Complutense de Madrid  en 1980.

 

-Especialidad de Genética Médica en Estados Unidos de América, en la Universidad de California en Los Angeles (UCLA) obteniendo el certificado del American Board of Medical Genetics en junio 1984.

 

-“Visiting Associate” en la sección de Bioquímica genética del departamento de Genética Humana en el Instituto Nacional de la Salud (NIH) en Bethesda, Maryland hasta 1987, realizando investigación en aspectos clínicos y   básicos de los  errores  congénitos del  metabolismo.

 

-En 1991 se incorpora al Departamento de Genética Médica del Hospital Ruber Internacional donde realiza trabajo clínico de:

  • dismorfología, valoración de retraso  mental y consejo genético
  • estudios citogenéticos pre y postnatales
  • estudios de citogenética molecular aplicada a estos temas y a oncología.

 

-Es miembro de la Sociedad Americana de Genética Humana y del Colegio Americano de Genética y Genómica Médica.

 

Ultimas publicaciones:

  • Jiménez-Huete A, Hortigüela R, Riva E, Bernar J, Guardado Santervás P, Esteban J, Franch O, Calero M. Familial cerebral cavernous malformations associated with a splice site CCM2 deletion.  J Neurol. 2009 Jan;256(1):137-8.
  • Ansari M, Rainger J, y cols. Extended mutation analysis in PAX6-negative aniridia. PLOs One Biology, enviado para publicación.
SERVICES PORTFOLIO

Laboratory area

• Prenatal diagnosis by amniocentesis from the week 14 of pregnancy. In urgent cases or specials, a particular technique can be used (fluorescent hybridization in situ, or its better-known acronym FISH), which in 24-48 hours can discard, with the highest reliability, the most common chromosomal alterations, mainly frequents as Down syndrome (trisomy 21). The puncture of the amniocentesis can be performed in the same Ruber International Hospital, or a sample can be sent any time it is received in the laboratory in 24-48 hours (ask to the laboratory the way to deliver).
• Classic cytogenetics in blood samples or other tissues, for diagnosis of congenital malformations, intellectual impairment or infertility. In addition to the conventional techniques, techniques of High Resolution are used for certain particular alterations.
• Molecular cytogenetics, in case of alterations suspicion in chromosomal specific areas. Recently a new technique has been added: analyse by fluorescence of subtelomeric regions. These areas are especially rich in genes and, in studies on intellectual impairment populations of unknown origin; an alteration of these areas is diagnosed in 6-12 % of the cases. It is quite significant that in a great percentage of these cases the anomaly is hereditary, being important regarding a suitable genetic advice.
• Oncogenetics, it is significant the case of leukemia, in which chromosomal alterations have been described with a relevance to the disease treatment and prognosis.

Cancer genetics

• PathvysionTM. In breast cancer, gene HER2/neu amplification and its detection through in situ fluorescent in paraffin cuts, has a big value as regarding the prognosis as its treatment. It is a test to detect, thanks to fluorescence (FISH), the number of copies of oncogen HER2/Neu and allows to establish precisely and objectively if it is amplified or not. Oncologists recognize that the information regarding amplification is essential for a better treatment and to predict patients’ survival. It is the only HER2 evaluation method approved by the American FDA for three suggestions: To establish the prognosis, specify the treatment with adriamycin and selection for Herceptin®, a monoclonal antibody.
This technique reduces the false positives and the false negatives associated with the immunohistochemical (IHQ), which is the conventional way of estimating the amplification of the gene. 16% of the negative IHQ (classified as 0/1+) are positive using the FISH. These false negatives deprive a patient of a beneficial therapy. On the contrary, a 40% of the positive IHQ (classified as 2+/3+) are negative using FISH, and these false positives involve an expensive treatment which, in addition, is not effective.
The American Society of Clinical Oncology recommends a Her2/Neu evaluation in all primary breast cancers, when diagnosed and when it is recurrent.
• UrovysionTM. The Medical Genetics Unit is provided with a specialized staff in all mentioned techniques and it is headed by a specialist in Medical Genetics, member of the American Society of Human Genetics (ASHG) and the American College of Medical Genetics (ACMG).
The fluorescent technique based on fluorescence probes for the chromosomes 3,7,9 and 17 for the diagnosis and follow up of urothelial recurrent cancer.
It is the first genetic diagnosis approved by the American FDA and with CE brand, as for diagnosis as for the urothelial cancer follow-up, especially the bladder one. It uses present cells in the samples of urine or of bladder washout, as in cytology.
Its usage is addressed to initial bladder cancer detection in patients with hematuria and eventual recurrences surveillance of this cancer. It can detect the appearance of a recurrence up to six months before it is clinically objective, helping thus to a better treatment for patients.
UrovysionTM has major sensibility than the cytology for cancer detection, independently of the stage and tumor grade and, at least, the same speciality. Moreover, the sensibility is greater in those tumors with major tendency to relapse, and its results are not affected by the BCG treatment. This is conceived to be used together with other diagnosis methods, and not instead of them, improving this way both the sensibility and the diagnosed specificity.
The Medical Genetics Unit is provided with a specialized staff in all mentioned techniques and it is headed by a specialist in Medical Genetics, member of the American Society of Human Genetics (ASHG) and the American College of Medical Genetics (ACMG).

Useful Links

In English

Chromosomes-Cytogenetics

Genetic diseases catalog

Support groups for patients and families

Grupos de apoyo para pacientes y familias. Grupos de apoyo para pacientes y familias.

Genoma project

Genetics society

Laboratories directory for genetic diseases diagnosis

Magazines