Noninvasive prenatal testing brings new options, opportunities, questions


Notwithstanding the potential benefits with respect to earlier decision making, one concern is the "normalization and trivialization of early selective abortion," they said, adding that "more generalized use of noninvasive testing could facilitate selective terminations of pregnancy in a range of conditions hitherto not diagnosed prenatally and where the arguments for and against termination may not have received sufficient scrutiny."

Also, testing for a broader scope of abnormalities has important implications regarding informed consent, they said (Eur. J. Hum. Genet. 2009 [doi:10.1038/ejhg.2009.203]).

"Informed consent will become far more challenging – if attainable at all. Moreover, should [NIPT] testing become available for a wider range of disorders including late-onset disease, this may lead to the same ethical difficulties as with regard to wide range testing of newborns, in which the dominant view is that the child’s right not to know should be respected," the authors wrote. "It is difficult to see how this respect can be upheld when, after broadening prenatal testing, children will be born with a positive test result for a serious late-onset disease."

Another facet of NIPT that is rife with ethical implications is noninvasive fetal whole genome sequencing, which was shown in a recent proof-of-concept study to be possible using only parental DNA samples and plasma. That study is revisited from a clinical standpoint in an article published in the same issue of Prenatal Diagnosis along with the editorial by Dr. Chitty and Dr. Bianchi and a number of other related articles and studies. (To give readers an overview of "this rapidly changing field," both the June and July issues of the journal are dedicated to NIPT, said Dr. Bianchi, the journal’s editor-in-chief).

"If noninvasive determination of the entire fetal genomic sequence becomes clinically available, there will be a significant increase in the number of ethical issues that arise," Dr. Chitty and Dr. Bianchi noted.

"You can imagine, it’s hard enough now to counsel about serum screening results for Down syndrome. Imagine if you had to deal with the entire human genome. But it’s coming – it’s coming, so we have to figure out ... what’s to be communicated to expectant couples," Dr. Bianchi said, adding that she hopes much of the groundwork for dealing with these issues will be laid in adult and pediatric populations before they have to be considered for fetuses.

While these advances bring with them ethical concerns, they also open doors to exciting opportunities, she said.

"The challenge now is to translate this technology into practice that is accessible to all pregnant women and in an ethical way that preserves informed parental choice, while not increasing overall costs to the health care system," Dr. Chitty and Dr. Bianchi said.

Dr. Bianchi is chair of the clinical advisory board for Verinata Health Inc., and has received honorarium and research funding from the company. She is editor-in-chief of the Journal of Prenatal Diagnosis, and has received honorarium from the company. Dr. Nicolaides’ and Dr. Gil’s studies were funded by grants from the Fetal Medicine Foundation. Dr. de Jong’s research was supported by the Centre for Society and Genomics in the Netherlands, funded by the Netherlands Genomics Initiative, and the Netherlands Organisation for Scientific Research Zonmw Prevention Fund.


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