Don’t perform genetic tests for monogenic diseases without specific indication both in the physiological procreation or by assisted reproduction technology (ART).

Type of practice

Laboratory tests



Topic Area

Human Genetics

Only in the case where the geneticist recognizes a reproductive risk for a specific monogenic disease, the genetic test for that single disease should be performed on the component at risk. Whether a monogenic autosomal recessive disease is present, the test should be extended to the partner only if the result is positive in the component at risk. Family and reproductive history should be collected in both components of the couple who want to procreate or who moves towards ART. Genetic testing should be offered only on the basis of family history or in consideration of screening provided for in the population or ethnic group at risk. In the absence of a positive familial anamnesis for monogenic diseases, the couple has the same risk for recessive diseases as in the general population.


1. Harper J, Geraedts J, Borry P, et al; ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.Hum Reprod. 2014 Aug;29(8): v1603-9.
2. European Society of Human Genetics; European Society of Human Reproduction and Embryology: The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology.vHum Reprod 2006 Aug; v21(8):v1971-3.
3. Aress Regione Piemonte. Definizione dell’appropriatezza prescrittiva dei test genetici.
4. Delib.G.R. Toscana 18 febbraio 2008, n. 114. Protocolli per l'esecuzione di test genetici per infertilità e procreazione medicalmente assistita. Criteri per l'introduzione di nuovi test genetici nel SSR.

Attention. Please note that these items are provided only for information and are not intended as a substitute for consultation with a clinician. Patients with any specific questions about the items on this list or their individual situation should consult their clinician.