Prenatal and Preimplantation Diagnosis

Prenatal and Preimplantation Diagnosis: The Burden of Choice 1st Edition

In the past, a woman became pregnant and gave birth to a baby, navigating the pregnancy with little or no information about the fetus and unaware of problems that might be present until after delivery. More recently, thanks to advances in genetics, it has become possible to sequence individual human genomes and detect in a preimplanted embryo or a fetus the presence or absence of not only entire chromosomes but also single nucleotide variations. We have entered an era of rapidly expanding options for noninvasive prenatal screening and testing. Safe, reliable, and inexpensive screening is now available to women early in pregnancy as an alternative to invasive procedures such as amniocentesis and chorionicvillus sampling. As a result of the availability of multiple options for prenatal information gathering, women and their partners are increasingly faced with decisions regarding whether to undergo preimplantation or prenatal screening and if so, which methods to choose.

Screening brings with it the possibility of receiving information indicating actual or potential fetal abnormality prior to transfer of an embryo to the uterus, or during an ongoing pregnancy. As prenatal screening becomes more routine not only for women above a particular age but also for all women, parents often perceive it as just another opportunity to confirm that all is well with the pregnancy; they do not necessarily understand that this testing is optional and fraught with downstream implications. This typical parental mindset underscores the need for pre-screening counseling in order to obtain truly informed consent. Post-screening counseling to address the need of some for additional diagnostic testing and to deal with their psychosocial needs must also be available as couples decide how to deal with the possibility or fact of a fetal anomaly.

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