In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. The subsequent years have seen the introduction of new technologies as well as evolution of current techniques. Additionally, in light of recent advice from ESHRE on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather than one document that covers all of PGD, the new guidelines are separated into four new documents that apply to different aspects of a PGD programme, i.e. organization of a PGD centre, fluorescence in situ hybridization (FISH)-based testing, amplification-based testing and polar body and embryo biopsy for PGD/preimplantation genetic screening (PGS). Here, we have updated the sections that pertain to FISH-based PGD. PGS has become a highly controversial technique. Opinions of laboratory specialists and clinicians interested in PGD and PGS have been taken into account here. Whereas some believe that PGS does not have a place in clinical medicine, others disagree; therefore, PGS has been included. This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible. Topics covered in this guideline include inclusion/exclusion criteria for FISH-based PGD testing, referrals and genetic counselling, preclinical validation of tests, FISH-based testing methods, spreading of cells for analysis, set-up of local IVF centre and transport PGD centres, quality control/ quality assurance and diagnostic confirmation of untransferred embryos.

Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there have been improvements in diagnosis and early management, particularly with respect to congenital adrenal hyperplasia, the commonest cause of ambiguous genitalia of the newborn. However, dissatisfaction with overall management remains. A Clinical Guidelines and Handbook for Parents generated by a partnership of health professionals and support groups is available on the internet. The professional societies representing paediatric endocrinology responded by organizing a consensus meeting on the management of intersex. This resulted in the publication of a Consensus Statement encompassing many aspects of management, extending from birth to adulthood.

Following the publication of our article about a classic case of sex reassignment, the media attention was rapid and widespread, as was the reaction of many clinicians. Some wanted to comment or ask questions, but many contacted us directly or indirectly, asking for specific guidelines on how to manage cases of traumatized or ambiguous genitalia.

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The ethical guidelines in the clinical practice of fetal medicine are discussed, largely from the point of view of early prenatal diagnosis. The discussion concentrates on several specific aspects including counselling, good procedure, prenatal screening, disclosure of results including fetal sex, experimentation and assessment of new technologies and health education. The emphasis is placed on the importance of informed consent, choice and understanding on the part of the patient, and the professional competence of the doctor and other professionals she may meet.

This paper reports on recent regulations and guidelines in the Federal Republic of Germany bearing on perinatal medical ethics, embryo research and trophoblast biopsy. Some of the regulations are defensive responses to new moral opportunities. In contrast, this paper calls for a more aggressive moral cost-benefit assessment of high technology medicine, which would include large-scale research on embryos prior to the fiftieth day post-menstruation.

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