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Reproductive & non-invasive prenatal genetic diagnostics

Life and Matter Sciences International Symposium June 8-9, 2017 Madrid

General information

Venue: Fundación Ramón Areces, Vitruvio, 5. 28006. Madrid

Organized by:

Fundación Ramón Areces

In cooperation with:

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)


Ana BustamanteServicio de Genética. Hospital Universitario Fundación Jiménez Díaz


Coordinadoras adjuntas:

Marta Rodríguez de Alba, María José Trujillo and Carmen AyusoServicio de Genética. Hospital Universitario Fundación Jiménez Díaz 

  • Description
  • Programme

Currently, medicine offers a variety of reproductive options to couples with a high risk of having offspring affected by hereditary diseases. These options include prenatal diagnosis, or genetic diagnosis of a fetus during an ongoing gestation, and preimplantation diagnosis, meaning genetic diagnosis of the embryos obtained by assisted reproductive techniques before transfer to the uterus. These two fields have advance substantially in recent years, primarily due to the evolution of diagnostic techniques.

Traditionally, prenatal genetic diagnosis involved performing an invasive obstetric technique (chorionic biopsy or amniocentesis) for fetal tissue sampling. This approach carries a risk for the pregnancy due to the invasion of the intrauterine environment. The search for new, less invasive methods led to the discovery of fetal genetic material in the maternal bloodstream, opening a new path of opportunity for study of the fetal genome. Incorporation of this diagnostic approach in routine clinical practice began a decade ago, though the number of diagnoses for which it was employed remained limited. Over the years, and thanks to the higher sensitivity of the molecular techniques, the range of diagnoses has expanded, thus presenting a hopeful alternative for many pregnant women. This is nowadays known as non-invasive prenatal diagnosis (NIPD).

On the other hand, preimplantation genetic diagnosis (PGD) also represents a reproductive alternative for those patients with certain genetic diseases or chromosomal anomalies who wish to have healthy offspring. In PGD, embryos from in vitro fertilization are studied to select those embryos that are free of the familial genetic defect or chromosomal defect, which are then used for uterine transfer.

Reproductive diagnosis, however, is not limited to the detection of genetic abnormalities. The process also includes pre-gestational genetic counselling, providing couples with information that may help them select the best reproductive option for their personal circumstances. Recent advances in reproductive medicine, both at the pre-implantation and prenatal levels, also come with certain challenge. For one, couples need precise and individualized information. Additionally, emerging ethical dilemmas must be considered and evaluated.

This symposium will feature the latest advances in reproductive genetics at the preimplantation, prenatal, and preconception levels.

Thursday, 8


Opening & Welcome to the Symposium

Federico Mayor Zaragoza
Chairman of the Scientific Council. Fundación Ramón Areces. Spain. 

José María Medina Jiménez
Deputy Chairman of the Scientific Council. Fundación Ramón Areces. Spain.

Marta Rodríguez de Alba
Servicio de Genética. Hospital Universitario Fundación Jiménez Díaz. 

Ana Bustamante
Servicio de Genética. Hospital Univ. Fundación Jiménez Díaz.

SESSION 1: Reproductive genetic counselling


Carmen Ayuso


Counselling for aneuploidy in the era of cell free DNA testing

Celine Lewis
Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.


The role of the Spanish Society of Genetic Counselling (SEAGEN)

Clara Serra-Juhé
Universidad Pompeu Fabra, Barcelona, Spain, CIBERER.




The reality of reproductive genetic counselling

Maria Juliana Ballesta
Hospital Universitario Virgen de la Arrixaca, Murcia, Spain, CIBERER.

SESSION 2: Conventional prenatal diagnosis


Carmen Ramos


Incidental findings in conventional Prenatal Diagnosis

María de los Ángeles Mori Álvarez
INGEMM, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz.


The future of triple screening

José Luis Bartha
Servicio de Obstetricia y Ginecología, Hospital Universitario La Paz, Madrid, Spain.


Conclusions and Discussion


Lunch Break

SESSION 3: Non-invasive prenatal aneuploidy screening and diagnosis of monogenic disorders


Marta Rodríguez de Alba
Ana Bustamante


Incorporation of NIPT in the Spanish National Health System

Miguel Ángel Moreno
Servicio de Genética. Hospital Ramón y Cajal, Madrid, Spain, CIBERER.


Canadian experience in the translation of the NIPT into clinical practice: PEGASUS Project

Francois Rousseau
Department of Molecular Biology. Université Laval, Québec, Canada.


NIPD of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

Stephanie Allen
West Midlands Regional Genetics Laboratory. Birmingham Women´s NHS Foundation Trust. UK.


Implementing Non-Invasive Prenatal Diagnosis (NIPD) of monogenic diseases in a National Health Service Laboratory

Fiona McKay
Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Friday, 9

SESSION 4: Preimplantation genetic diagnosis (PGD)


Marta Rodríguez de Alba
Ana Bustamante


Mitochondrial donation vs PGD of mitochondrial diseases

Louise Hyslop
Newcastle Fertility Centre, UK.


The efficiency of the HLA embryo selection

Ana Peciña.
Unidad de Genética. Hospital Virgen del Rocío, Sevilla, Spain, CIBERER.




PGD in inherited cancer

Isabel Lorda
Servicio de Genética. Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain, CIBERER.


Carrier testing for genetic diseases

Lluis Armengol
QGenomics, Barcelona, Spain.


CRISPR and the Genome editing in Human Embryos

Jose María Millán
IIS- Hosp. Universitario La Fe, Valencia, Spain. CIBERER

SESSION 5: Ethical issues of the reproductive genetic diagnosis


Carmen Ayuso


Ethical aspects in the new era of reproductive genetic diagnosis

Antina de Jong
Dutch Medical Association, Netherlands.


Closing Session
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