Running head: ETHICS OF PRENATAL TESTING AND DIAGNOSIS 1 Examining the Ethics !

P"enata# Testing and Diagn sis $i#e% &' ( nin Li)e"t% High Sch #

The !i"st *uesti n that +im and Sue, a c u-#e ex-ecting thei" !i"st )a)%, as.ed the d ct " du"ing thei" -"ima"% a-- intment /as 0Is u" )a)% hea#th%12 This is a c mm n *uesti n am ng !utu"e -a"ents, and it can )e ans/e"ed th" ugh -"enata# testing' P"enata# testing is an um)"e##a te"m that desc"i)es -" cedu"es that gathe" in! "mati n a) ut ) th a -"egnant / man and he" de3e# -ing !etus du"ing a -"egnanc%' Tests can 3a"% !" m standa"d u#t"as unds t s-ecia#i4ed assessments, # .ing ! " a -a"ticu#a" and - ssi)#% ha"m!u# t"ait' A#th ugh the -u"- se ! the testing -" cess is t ensu"e the hea#th ! the m the" and chi#d, 3a"i us ethica# issues a"e )" ught t attenti n /hen discussing this t -ic' Regu#ati ns can )e insta##ed t he#- a3 id ethica# di#emmas that a"e int" duced )% -"enata# testing and diagn sis, ! " the - siti3e utc mes ! the -" cedu"es ut/eigh the negati3e - ssi)i#ities ! " / men' The"e a"e t/ main t%-es ! -"enata# genetic testing5 in3asi3e and n nin3asi3e' N nin3asi3e -"enata# testing is t%-ica##% -e"! "med th" ugh a )# d test that ana#%4es !eta# DNA in a m the"6s )# d st"eam and dete"mines the "is. ! man% genetic dis "de"s, inc#uding D /n s%nd" me and the" ch" m s ma# a)n "ma#ities 7&a% C#inic Sta!!, 891:;' The m st c mm n n nin3asi3e test is "e!e""ed t as ce##<!"ee !eta# DNA 7c!!DNA; sam-#ing' In3asi3e -"enata# testing in3 #3es -" cedu"es that gene"a##% "em 3e and ana#%4e sam-#es !" m inside the ute"us itse#!' The t/ m st !ami#ia" t%-es ! in3asi3e diagn stic tests a"e ch "i nic 3i##us sam-#ing 7C=S;, in /hich a sam-#e is ta.en !" m the -#acenta ! " ana#%4ati n, and amni centesis, in /hich a sam-#e ! amni tic !#uid is ta.en !" m /ithin the m the"6s ute"us' >hi#e a## a"e e!!ecti3e

ETHICS OF PRENATAL TESTING AND DIAGNOSIS 8 meth ds ! dete"mining - tentia# genetic a)n "ma#ities, in3asi3e -"enata# testing tends t ha3e a highe" "is. ! damaging a !etus " e3en causing misca""iage, /hi#e n nin3asi3e tests - se 3i"tua##% n "is. t the m the" " de3e# -ing chi#d' 0This de3e# -ment h #ds the -" mise ! NIPD ?n nin3asi3e -"enata# diagn sis@ testing ea"#% in -"egnanc% and /ith ut the sma##, )ut signi!icant "is. ! ! eta# # ss that the cu""ent in3asi3e -" cedu"es ! ch "i nic 3i##us sam-#ing 7C=S; and amni centesis 7AP; ca""%2 7de + ng, D nd "-, de Die<Smu#de"s, F"ints, A de >e"t, 8919, -' 8B8;' ( th t%-es ! test can detect a 3a"iet% ! cha"acte"istics, !" m the sex ! the )a)%, t D /n S%nd" me, t Ta%<Sachs disease' In additi n t )eing #ess ha4a"d us, n nin3asi3e -"enata# tests can a#s )e -e"! "med ea"#ie" in a -"egnanc%, at a) ut C /ee.s ! de3e# -ment' C=S cann t )e unde"ta.en unti# a) ut 1: /ee.s ! gestati n and amni centesis cann t )e attem-ted unti# a!te" 1D /ee.s 7Dic.ens, 891E, Int" ducti n;' The ea"#ie" detecti n -e"i d is 3e"% a--ea#ing t man% -e -#e )ecause the maF "it% )e#ie3e that a !etus g" /s m "e 3a#ua)#e and m "e human as de3e# -ment -" g"esses' H /e3e", )ecause n nin3asi3e -" cedu"es a"e "e#ati3e#% ne/ and a"e sti## )eing assessed, it is "ec mmended that these tests )e c u-#ed /ith the m "e t"aditi na# ! "ms ! -"enata# testing' P" !ess " (e"na"d &' Dic.ens 7891E; states, 0the Ame"ican C ##ege ! O)stet"icians and G%nec # gists 7ACOG; cauti us#% a--" 3ed c!!DNA testing'''as a -"ima"% sc"eening test "athe" than as a "e-#acement ! " the -"ecisi n )tained /ith C=S " amni centesis' The test is a#s a--" 3ed as a ! ## /<u- test ! " / men /ith a - siti3e !i"st< " sec nd<t"imeste" sc"eening test "esu#t2 7Int" ducti n;' >hen !aced /ith the "is. ! ha3ing a chi#d /ith a genetic dis "de" " a)n "ma#it%, the"e a"e se3e"a# /a%s in /hich - tentia# -a"ents can -" ceed' I! a c u-#e is a/a"e ! - tentia# de!ects due genetic sc"eening -"i " t a -"egnanc%, the% ma% ch se n t t "e-" duce at a## " acce-t the

"is. ! ha3ing a disa)#ed chi#d and "e-" duce, h -ing ! " the )est' An the" -ti n is t )ec me

ETHICS OF PRENATAL TESTING AND DIAGNOSIS : -"egnant /ith the aid ! a"ti!icia# "e-" ducti3e -" cedu"es' This inc#udes su"" gac%, in /hich the in!ant /i## n#% ha3e the DNA ! the -a"ent that d es n t ca""% an a!!ected gene, " in 3it" !e"ti#i4ati n, in /hich gametes and 4%g tes a"e ana#%4ed and set aside i! de!ecti3e' This ensu"es that the m the" /i## ca""% a chi#d /ith ut a s-eci!ic, undesi"ed t"ait' H /e3e", /hen -a"ents d n t disc 3e" a genetic a)n "ma#it% unti# a!te" a chi#d has )een c ncei3ed, the% ha3e the ch ice t eithe" gi3e )i"th and #ea"n a) ut t"eatment -ti ns ! " the disa)i#it% and h / t c -e /ith th se cha##enges, " the -ti n t te"minate the -"egnanc% 7Ame"ican &edica# Ass ciati n, 1CCE, Cu""ent A)i#ities t Se#ect " &ani-u#ate ! " Genetic Dis "de"s and T"aits secti n;' Due t -"enata# testing and diagn sis, c u-#es a"e -"esented /ith a "ange ! ch ices and the% a"e a)#e t se#ect /hich is the )est a#te"nati3e ! " them' One ! the main a--ea#s that -"enata# testing -"esents is the -- "tunit% it -" 3ides ! " c u-#es t -"e-a"e ! " a chi#d /ith a se"i us genetic dis "de"' Acc "ding t Dic.ens, 0disc# su"e ? ! - ssi)#e genetic de!ects@ ma% a## / -a"ents the ad3antage ! time t ma.e suita)#e -#ans2 7Dic.ens, 891E, A--" -"iateness ! !!e"ing testing secti n;' P#ans ma% inc#ude #ea"ning a) ut the natu"e ! the disa)i#it%, h / the dis "de" /i## a!!ect the chi#d, /hat s-ecia# ca"e /i## )e "e*ui"ed ! the -a"ents, - ssi)#e t"eatment -ti ns, as /e## as sa3ing !unds in ad3ance t su-- "t the chi#d th" ugh an% t"eatments " -" cedu"es that ma% )e necessa"%' In this manne", -"enata# testing he#-s !ami#ies !ace the cha##enges ! "aising an a!!ected chi#d' On the the" hand, a c nce"n that man% ha3e in "ega"ds t -"enata# testing and diagn sis is the - ssi)i#it% ! -a"ents "es "ting t a) "ti n /hen the !etus dis-#a%s /hat the Ame"ican &edica# Ass ciati n 7A&A; "e!e"s t as 0)enign genetic t"aits2 71CCE, P tentia# ! " Exace")ati n ! Disc"iminat "% P"actices secti n;' These t"aits inc#ude - tentia# dis "de"s " cha"acte"istics that a"e n t se"i us " ! im- "tance in a s ciet% that 3a#ues e*ua#it%, )ut ma% )e c nside"ed

ETHICS OF PRENATAL TESTING AND DIAGNOSIS E undesi"a)#e )% ce"tain - -u#ati ns due t disc"iminati n' Dic.ens states that 0disc# su"e ! !eta# inhe"itance ! genes -"edis- sing, ! " instance, t )"east cance" ma% -" 3ide -- "tunities ! " -a"ents t see. t c nt" # thei" !utu"e chi#d"en6s #i3es t an ext"a "dina"% deg"ee and t te"minate -"egnancies n i""ati na# and a#a"mist g" unds2 7891E, A--" -"iateness ! O!!e"ing Testing secti n;' Acc "ding t the Ame"ican Cance" S ciet% 7891E;, m "e than 8:9,999 ne/ cases ! )"east cance" a"e diagn sed in the Gnited States each %ea"' (ecause s man% / men a"e a)#e t !ace the cha##enges -"esented )% )"east cance" e3e"% da% and #i3e th" ugh them, it is un"eas na)#e t te"minate a -"egnanc% sim-#% )ecause the"e is a - ssi)i#it% that the chi#d /i## de3e# - )"east cance" much #ate" in #i!e' An the" c mm n c nce"n /hen discussing the ethics ! -"enata# testing is genetic se#ecti n )ased n gende"' The"e a"e s me situati ns in /hich sex se#ecti n is necessa"%, name#% /hen a sex<#in.ed dis "de" is detected, )ut the te"minati n ! a -"egnanc% )ased n gende" -"e!e"ence is n t inc#uded am ng the exce-ti ns' The Ame"ican &edica# Ass ciati n ex-#ains that, a#th ugh gende" ine*ua#it% is an issue that is )eing add"essed in the Gnited States, studies sti## sh / that ma#e chi#d"en a"e gene"a##% -"e!e""ed 3e" !ema#e chi#d"en 71CCE, P tentia# ! " Exace")ati n ! Disc"iminat "% P"actices secti n;' This -"e!e"ence suggests that the te"minati n ! !ema#e !etuses /i## )e m "e c mm n than ma#e !etuses /hen -"enata# diagn ses a"e disc# sed' Sex se#ecti n is a huge issue )ecause 0it im-#icit#% ! ste"s the 3a#ue ! ne sex 3e" the the"5 it ?c n!i"ms@ that sex is a g 3e"ning !act " in h / humans )eha3e5 and it t"eats gende", a genetic t"ait, as a disease2 7Ame"ican &edica# Ass ciati n, 1CCE, P tentia# ! " Exace")ati n ! Disc"iminat "% P"actices secti n;' Ce"tain measu"es can )e ta.en t a3 id unethica# te"minati n ! -"egnancies )ased n insigni!icant t"aits' N nin3asi3e -"enata# tests a"e cu""ent#% "ec mmended n#% ! " / men /ith a

ETHICS OF PRENATAL TESTING AND DIAGNOSIS H high "is. ! )ea"ing a chi#d /ith a se"i us c ngenita# dis "de"' A / man is c nside"ed t )e high< "is. /hen she is -"egnant at :H %ea"s ! age " #de", has ex-e"ienced a - siti3e "esu#t n a -ast !i"st t"imeste" sc"eening, the - ssi)i#it% ! aneu-# id% 7a)n "ma# num)e" ! ch" m s mes; /as suggested )% an u#t"as und, has had a -ast t"is m% )i"th, " is a/a"e ! a genetic c nditi n ca""ied )% eithe" he"se#! " he" -a"tne" 7St . /s.i A $#ugman, 891:;' This t%-e ! testing is n t ext"eme#% c mm n at this time, /hich ma% )e due in -a"t t the !act that the c st ! a n nin3asi3e -"enata# test in the Gnited States is t%-ica##% )et/een IBCH and I8999 7Dic.ens, 891E, State ! the diagn stic a"t secti n;' H /e3e", the Ame"ican C ##ege ! O)stet"icians and G%nec # gists -"edicts that n nin3asi3e techn # gies /i## im-" 3e and the c st /i## dec"ease, ma.ing them m "e accessi)#e t # /, " n n<"is. - -u#ati ns 7Dic.ens, 891E, Int" ducti n;' I! this -"edicti n is c ""ect and the a3ai#a)i#it% ! c!!DNA sam-#ing and simi#a" tests )ec mes #ess #imited, genetic se#ecti n and te"minati n )ased n unim- "tant cha"acte"istics /i## )ec me a #a"ge" issue' In "de" t a3 id this, it sh u#d )e mandated )% #a/ that / men /h "ecei3e -"enata# diagn ses that extend )e% nd the standa"d tests, such as u#t"as unds, must )e c nside"ed high<"is.' One )ene!it t n nin3asi3e -"enata# testing and diagn sis is that it is sti## a de3e# -ing !ie#d' The"e is a g"eat am unt ! - tentia# ! " the im-" 3ement and g" /th ! these -" cedu"es, inc#uding the - ssi)i#it% ! -" cessing the enti"e gen me ! a !etus )e! "e it is e3en ) "n as /e## as in<ute" genetic m di!icati ns th" ugh gene the"a-%' 0Gene the"a-% is the "e-#acement " "e-ai" ! an undesi"ed gene /ith a desi"ed gene, and ma% -" 3ide a -" mising t"eatment ! " genetic dis "de"s "esu#ting !" m a sing#e gene de!ect2 7Ame"ican &edica# Ass ciati n, 1CCE, Cu""ent A)i#ities t Se#ect " &ani-u#ate ! " Genetic Dis "de"s and T"aits secti n;' G ing hand< in<hand /ith this is a#s the - ssi)i#it% t su)stantia##% "educe the ccu""ence ! c ngenita#

ETHICS OF PRENATAL TESTING AND DIAGNOSIS D diseases' The Ame"ican &edica# Ass ciati n ex-#ains that, 0A -"ima"% g a# ! genetic se#ecti n and mani-u#ati n is t inc"ease the ca-acit% t diagn se, t"eat, an?d@ e#iminate dis "de"s /hich a"e genetica##% caused2 71CCE, E#iminati n ! Disease secti n;' P"enata# testing he#-s t shed #ight n the - ssi)i#it% ! gene the"a-% )eing e!!ecti3e as ea"#% as the em)"% nic stage ! de3e# -ment as /e## as n the e#iminati n ! se3e"e genetic a)n "ma#ities' This de3e# -ment c u#d mean a su)stantia# im-" 3ement in / "#d hea#th' In the !utu"e, it ma% )e "a"e t enc unte" s me ne diagn sed /ith D /n S%nd" me, Fust as it had )een unc mm n t hea" ! s me ne /ith - #i since the c"eati n ! the 3accine in the 1CH96s' >hi#e -"enata# testing is t%-ica##% 3ie/ed as a )ene!icia# -" cedu"e in the Gnited States, it has )een seen t d m "e ha"m than g d in the"s, s-eci!ica##% Latin c unt"ies' &an% nati ns

-" 3ide -"enata# testing and diagn sis t -"egnant / men, )ut d n t -" 3ide them /ith the -ti n t #ega##% te"minate a -"egnanc%, e3en /hen a se"i us c ngenita# dis "de" is ! und' 0In de3e# -ed "egi ns, J1 -e" cent ! c unt"ies a## / a) "ti ns ! " !eta# im-ai"ment, /he"eas in #ess ?de3e# -ed@ "egi ns n#% 8D -e" cent a## / a) "ti ns n these g" unds2 7(a##ant%ne, Ne/s n, Luna, A Ashc" !t, 899C, -' H9;' (ecause a) "ti n is n t #ega#, these / men must eithe" ha3e a chi#d /ith a usua##% ex-ensi3e and se"i us c nditi n " "es "t t an unsa!e and i##ega# a) "ti n' H /e3e", a stud% c nducted )u% Kuad"e##i suggests that JC -e" cent ! c u-#es in a Latin Ame"ican c unt"% that disc 3e"ed thei" chi#d / u#d ha3e D /n S%nd" me -"e!e""ed te"minati n t t"eatment 7as cited )% (a##ant%ne, et a#', 899C -' H9;' Ca"ing ! " a chi#d /ith a c ngenita# dis "de" can )e 3e"% cha##enging and t"aumatic ! " a !ami#%, es-ecia##% /hen the% d n t ha3e the necessa"% !inancia# "es u"ces t -" 3ide -" -e" t"eatment' (ecause ! this, man% -"egnant / men in Latin c unt"ies /i## -t ! " unsa!e and i##ega# a) "ti ns' Acc "ding t the > "#d Hea#th O"gani4ati n 7>HO;,0thi"teen -e"cent ! a## mate"na# deaths / "#d/ide a"e th ught t )e

ETHICS OF PRENATAL TESTING AND DIAGNOSIS B due t unsa!e a) "ti nLe*uating t DJ,999 mate"na# deaths -e" %ea" 2 7as cited )% (a##ant%ne, et a#', 899C, -' H1;' This statistic suggests that it is unethica# t -" 3ide -"enata# testing ! " genetic a)n "ma#ities as an -ti n /hen the te"minati n ! a -"egnanc% is -" hi)ited )ecause it ma% #ead t ha4a"d us c nse*uences ! " -"egnant / men /h !ee# that the% a"e n t a)#e t hand#e a disa)#ed chi#d' In cases such as these, "egu#ati ns sh u#d )e in -#ace that "e*ui"e sa!e and #ega# te"minati n t c incide /ith -"enata# testing in "de" t gi3e -"egnant / men the -ti n t -u"sue that " ute' This /i## u#timate#% -" m te the 3e"a## hea#th ! / men )% -"e3enting dange" us attem-ts at a) "ti n' >hen discussing the ethics that su"" und -"enata# testing and diagn sis, the"e a"e man% di!!e"ent -e"s-ecti3es and inte"-"etati ns t c nside"' The"e a"e c#ea" ad3antages and disad3antages t -"enata# testing !" m an ethica# stand- int' It is im- "tant t !ind a )a#ance )et/een the t/ , /hich can )e d ne )% -utting "egu#ati ns and mandates in -#ace that -"e3ent the a)use ! this t%-e ! testing and the .n /#edge #ea"ned !" m it' >hen dete"mining /hat sh u#d )e d ne in the instance ! a !etus that /i## - tentia##% )e a!!ected )% a genetic disease, it is im-e"ati3e t .ee- in mind that the"e is n t a ne<si4e<!its<a## ans/e" t this *uesti n' Each !ami#% and each -"egnanc% has its /n set ! ci"cumstances' H /e3e", s me things t c nside" /hen "eaching a decisi n n h / t -" ceed in the e3ent ! the detecti n ! a dis "de" a"e 0h / -"eci us is the -"egnanc%1 >hat is the natu"e ! the i##ness " handica- that is at sta.e1 H / t c -e /ith the #ac. ! ce"taint%1 >hat additi na# tests sh u#d )e c nducted12 7$annai, 8919;'

ETHICS OF PRENATAL TESTING AND DIAGNOSIS J

Re!e"ences Ame"ican Cance" S ciet%' 7891E, +anua"% :1;' H / man% / men get )"east cance"1' htt-:MM///'cance"' "gMcance"M)"eastcance"M 3e"3ie/guideM)"east<cance"< 3e"3ie/<.e%< statistics Ame"ican &edica# Ass ciati n' 71CCE;' P"enata# genetic sc"eening' A"ch Fam &ed', 78;, D::< DE8' htt-:MM///'ama<assn' "gM"es u"cesMd cMethicsMceFaNdiC8'-d! (a##ant%ne, A', Ne/s n, A', Luna, F', A Ashc" !t, R' 7899C;' P"enata# diagn sis and

ETHICS OF PRENATAL TESTING AND DIAGNOSIS C a) "ti n ! " c ngenita# a)n "ma#ities: Is it ethica# t -" 3ide ne /ith ut the the"1' Ame"ican + u"na# O! (i ethics, C7J;, EJ<HD' d i:19'19J9M1H8DH1D9C98CJECCD de + ng, A', D nd "-, >' +', de Die<Smu#de"s, C' &', F"ints, S' &', A de >e"t, G' R' 78919;' N n<in3asi3e -"enata# testing: ethica# issues ex-# "ed' Eu" -ean + u"na# O! Human Genetics, 1J7:;, 8B8<8BB' d i:19'19:JMeFhg'899C'89: Dic.ens, (' &' 7891E;' Ethica# and #ega# as-ects ! n nin3asi3e -"enata# genetic diagn sis' Inte"nati na# + u"na# O! G%nec # g% A O)stet"ics, 18E78;, 1J1<1JE' d i:19'191DMF'iFg '891:'11'991 $annai, R' 78919;' O&a%)e it / u#d )e )ette" i! % u s- .e t m% m the"16LGenetic c unse#ing and -e"s na# ex-e"ience' Patient Educati n A C unse#ing' 8D9<8D1' d i:19'191DMF'-ec'899C'19'98J' &a"ch ! Dimes' 7891:, +u#%;' P"enata# tests' Ret"ie3ed !" m htt-:MM///'ma"ch !dimes'c mM-"egnanc%M-"enata#<tests'as-xP &a% C#inic Sta!!' 78918, Oct )e" 19;' Amni centesis' Ret"ie3ed !" m htt-:MM///'ma% c#inic' "gMtests<-" cedu"esMamni centesisM)asicsMde!initi nM-"c< 8991EH8C &a% C#inic Sta!!' 78918, Oct )e" 19;' Ch "i nic 3i##us sam-#ing' Ret"ie3ed !" m htt-:MM///'ma% c#inic' "gMtests<-" cedu"esMch "i nic<3i##us< sam-#ingM)asicsMde!initi nM-"c<8991:HDD

ETHICS OF PRENATAL TESTING AND DIAGNOSIS 19 &a% C#inic Sta!!' 7891:, Fe)"ua"% 8:;' N nin3asi3e -"enata# testing' Ret"ie3ed !" m htt-:MM///'ma% c#inic' "gMtests<-" cedu"esMn nin3asi3e<-"enata#< testingM)asicsMde!initi nM-"c<89918CDE St . /s.i, L' A', A $#ugman, S' 7891:, N 3em)e" 9B;' The -" s and c ns ! n nin3asi3e -"enata# testing' &edsca-e O)MG%n' Ret"ie3ed !" m htt-:MM///'medsca-e'c mM3ie/a"tic#eMJ1:JJ8'