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The management of pregnancy at known high risk for fetal abnormality because of an affected family member can be more straightforward but there are still many cases where a joint consultation between the geneticist and fetal medicine unit could be advantageous. A specialist in fetal medicine would not be expected to know the variability of a condition, the likely gestation at which the abnormality could be identified or the prognosis of a rare disorder in the absence of the clinical geneticist. Abnormalities that may be identified at the early scan that warrant input from the geneticist include holoprosencephaly and omphalocele. Cleft lip and palate, arthrogryposis, hydrops, renal disorders and skeletal dysplasias can be better handled with the aid of the geneticist. Examination of parents and the family history can give helpful clues to the underlying diagnosis of a dysmorphic fetus and this is best done by the geneticist.
This chapter discusses the consensus views obtained from the 57th Study Group on various aspects of reproductive genetics. It emphasizes that fetal karyotyping should remain the gold standard test following invasive prenatal diagnosis until appropriately tested and evaluated higher-resolution whole-genome analytical methods can be introduced. Preimplantation genetic diagnosis (PGD) for saviour siblings should be permitted or denied based on the permissibility or impermissibility of live-organ donation by children. Focused basic research is needed to understand the normal genetic and epigenetic events that occur during primordial germ cell specification from embryonic stem (ES) cells and in the differentiation of primordial germ cells. Improvements in vector design and safety will be needed before safe targeted delivery to the fetus can be achieved; studies into long-term safety in large animal models (non-human primates) should be supported. Research is needed into the long-term outcomes of novel therapeutic interventions.
Great progress has been made in genetics in recent years, with significant consequences for the field of reproductive genetics. The ability to identify genetic defects before implantation, to diagnose fetal abnormalities and to introduce screening programmes means that genetic testing now has a major role in preventive medicine. The 57th RCOG Study Group brought together a range of experts to examine the many clinical, ethical and societal issues around reproductive genetics. This book presents the findings of the Study Group, covering a range of disorders, advances in treatments and techniques, as well as the importance of educating the public and the potential ethical dilemmas that may arise as a result of new scientific findings and new methodologies.