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Carrier screening

Carrier screening consists of analysing parents to minimise the transmission of hereditary diseases to their offspring. The genetics of both parents are studied to detect possible mutations in them, and if the same mutation is found in both, decisions can be made to avoid the transmission of this disease to the baby.

Carrier Screening: Key to the prevention of hereditary diseases

Virtually everyone carries at least one mutation associated with an inherited disease. Because these mutations are recessive, carrying one does not mean that the person has the disease. However, there is a possibility that their children may inherit it if their reproductive partner carries the same mutation in their DNA and, when their genetic material combines to form the baby’s genome, the baby inherits the mutated copy from both parents.

This is because humans have all genes in duplicate, inheriting one from our mother and another from our father, and although they are the same gene, the two copies are not the same.

For this reason, in recessive diseases, when only one of the copies has this defect, the person does not develop the disease because there is the other healthy copy. But if both copies are “defective”, the disease manifests with its symptoms and consequences.

What does it detect?

This test detects the presence of mutations in parents, or in donors if using donor gametes, to determine whether there is a risk of the baby having such a disease.

What advantages does this test offer?

The number of diseases analysed in this test ranges from 75 to more than 2200, depending on the patients. Either the blood or saliva can be analysed, and the test is very quick and easy. Results are provided in less than a month, even in the case of genetic analysis.

The great advantage of this option is that it can minimise the risk that the baby might have a serious and dangerous disease that would condition their life or even lead to death.

We are here to support you.
  • Call us
954 032 022
We are here to support you.
  • Call us
954 032 022

Dr. Pamela Valdivieso Mejía

gynaecologist and specialist in assisted reproduction

  • Specialist in Gynaecology and Obstetrics (MIR programme) at the Virgen de Valme University Hospital.
  • Master's Degree in Human Reproduction from the Universidad Rey Juan Carlos.
  • 11 años de experiencia en reproducción asistida.

Dr. Silvia Valladares Jiménez

Specialist in Endocrinology and Nutrition

  • Specialist in Endocrinology and Nutrition with extensive clinical experience in leading hospitals such as Vall d’Hebron University Hospital and Viamed Santa Ángela de la Cruz Hospital, where she is currently head of department.
  • Her practice focuses on comprehensive patient care, with a particular specialism in reproductive endocrinology, diabetes and endocrine disorders during pregnancy.
  • She has experience in the diagnosis and treatment of conditions such as type 2 diabetes, obesity, thyroid disorders, acromegaly and gynaecomastia, as well as in the management of complex hormonal and metabolic disorders, particularly in female endocrinology.
  • She is actively involved in clinical research, participating in European projects such as EUROCONDOR and PILCHARDUS, as well as contributing to scientific publications and medical conferences. She combines her clinical work with teaching and continuing clinical education.

Dr. José Vilar

GYNAECOLOGIST

Education and Qualifications

  • Medical Degree from the University of Cádiz.
  • Specialist in Obstetrics and Gynaecology, Hospital Universitario Puerta del Mar, Cádiz.

Professional Experience

  • Gynaecologist at IVI Málaga (2013–2018).
  • Gynaecologist at Grupo Internacional UR (2020–2025).
  • Gynaecologist at IFV (2026–present).
  • Consultant in Obstetrics and Gynaecology at the Andalusian Health Service (2019–present).

Qualifications and Awards

  • PhD in Medicine from the University of Cádiz.

Scientific Activity

  • Co-author of several scientific publications in international journals and presentations delivered at national and international conferences.
  • Co-author of several chapters in specialised books on Gynaecology and Assisted Reproduction.

Ángeles Bretón

CLINICAL EMBRYOLOGIST

  • Bachelor's degree in Biotechnology from Pablo de Olavide University
  • Master's degree in Biology and Assisted Human Reproduction Technology from the European University of Madrid.
  • Completion of specialization courses in the assisted reproduction laboratory and workshops on embryo evaluation and selection.
  • Attendance at fertility conferences and seminars on reproductive medicine.

Dr. Carlos Javier Vega Reina

GYNAECOLOGIST

  • Graduated in Medicine from the University of Cádiz.
  • Specialised in Obstetrics and Gynaecology via MIR at the University Hospital of Puerto Real, Cádiz.
  • Master's Degree in Assisted Human Reproduction from the Complutense University of Madrid.

Dr. María Miró

IMMUNOLOGIST

  • Degree in Medicine, University of Cádiz
  • Specialist in Immunology, Reina Sofía University Hospital.
  • Extensive experience in Primary Care Medicine and Hospital Emergency Rooms
  • Reproductive Immunology. Experience in various reproduction centres

Dr. María Eugenia Molina

HEMATOLOGIST

  • Graduate in General Medicine and Surgery. University of Seville.
  • MIR training as a Specialist in Family and Community Medicine. Virgen Macarena University Hospital. Seville.
  • MIR training as a Specialist in Haematology and Haemotherapy. Nuestra Señora de Valme University Hospital. Seville.
  • Specialist in Haematology and Haemotherapy with practice in different health centres in Seville. Consultations on coagulation, myeloproliferative syndromes, red blood cell disorders, chronic and acute lymphoproliferative syndromes;
  • Specialised in disorders associated with recurrent pregnancy loss

Elena Mantrana Bermejo

Gynecologist. Specialist in Reproductive Medicine

  • Degree in Medicine and Surgery from the University of Seville.
  • Specialty in Obstetrics and Gynecology at Hospital Universitario de Valme, Seville.
  • Master’s Degree in Human Reproduction from the Universidad Rey Juan Carlos.
  • Specialist Physician of the Andalusian Health Service in the South Health Management Area (AGSS) of Seville.
  • Coordinator of the Assisted Human Reproduction Unit of the Hospital Universitario de Valme, Seville.
  • Member of the Human Reproduction Advisory Committee of AGSS of Seville.
  • Member of the working group for the update of the Guide for Assisted Human Reproduction of the Ministry of Health of the Andalusian Regional Government.
  • Tutor of Specialist Doctors in Training of the Teaching Area of the University Hospital of Valme.
  • Clinical Tutor Medical Students University of Seville

Alberto Armijo

Gynecologist. Reproductive Medicine Specialist

  • Degree in Medicine and Surgery from Universidad CEU San Pablo de Madrid.
  • Doctor of Medicine from the University of Seville, graduating with highest honours (cum laude)
  • Specialist in Gynecology and Obstetrics via MIR at the Virgen de Valme University Hospital.
  • Master in Human Reproduction, Universidad Complutense de Madrid.
  • Member of the Standing Committee of the Young Interest Group of the Spanish Fertility Society.
  • Clinical Stay. Division of Ultrasound in Obstetrics. Lis Maternity Hospital (Tel Aviv, Israel)