scd summary and sba n emqs

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SICKLE CELL DISEASE

[Green–top Guideline No. 61 July 2011/ tog april 2013]

Introduction:SCD is a group of inerited single!gene autoso"al re#essi$e disorders #aused %y te

&si#'le( gene) *i# a+e#ts ae"oglo%in stru#ture) in#ludes si#'le #ell anae"ia

,-%SS and te eteroygous #onditions of ae"oglo%in S and oter #lini#ally

a%nor"al ae"oglo%ins i!e ae"oglo%in C ,gi$ing -%SC) %eta talassae"ia ,gi$ing

-%S talassae"ia and ae"oglo%in D) or !ra%. ll of tese genotypes *ill

gi$e a si"ilar #lini#al penotype of $arying se$erity.

EPIDEMIOLOGY ) SCD as its origins in su%!Saaran fri#a and te 4iddle ast)

en#e it is "ost pre$alent in indi$iduals of fri#an des#ent as *ell as in te

Cari%%ean) 4iddle ast) parts of 5ndia and te 4editerranean) and Sout and Central"eri#a.

*ing to population "igration) SCD is no* of in#reasing i"portan#e *orld*ide and

tere are in#reasing nu"%ers of a+e#ted indi$iduals in urope and te S.

SCD is te "ost #o""on inerited #ondition *orld*ide) %out 300 000 #ildren

*it SCD are %orn ea# year) t*o!tirds of tese %irts are in fri#a.

5n te 7) it is esti"ated tat tere are 12 000–18 000 a+e#ted indi$iduals and o$er

300 infants %orn *it SCD in te 7 ea# year *o are diagnosed as part of te

neonatal s#reening progra""e. 9ere are appro:i"ately 100–200 pregnan#ies in

*o"en *it SCD per year in te 7.

PATHOPHYSIOLOGY SCD is a #onse;uen#e of poly"erisation of te a%nor"al

ae"oglo%in in lo*!o:ygen #onditions) *i# leads to te for"ation of rigid and

fragile si#'le!saped red #ells. 9ese #ells are prone to in#reased %rea'do*n) *i#

#auses te ae"olyti# anae"ia) and to $aso!o##lusion in te s"all %lood $essels)

*i# #auses a#ute painful #rises. ter #o"pli#ations of SCD in#lude stro'e)

pul"onary ypertension) renal dysfun#tion) retinal disease) leg ul#ers) #olelitiasis

and a$as#ular ne#rosis ,*i# #o""only a+e#t te fe"oral ead and "ay

ne#essitate ip repla#e"ent.

SCD *as pre$iously asso#iated *it a ig early "ortality rate) %ut no* te "a<orityof #ildren %orn *it SCD in te 7 li$e to reprodu#ti$e age and a$erage life

e:pe#tan#y is at least te "id!80s.

PREPREGNANCY CARE SCD is a #roni#) lifelong #ondition and tere are

re#o""endations for #lini#al #are *i# apply to all patients) in#luding *o"en

planning to %e#o"e pregnant.



=o"en sould %e re$ie*ed at least annually %y a spe#ialist si#'le ser$i#e for te

"onitoring and an up!to!date assess"ent of #roni# disease #o"pli#ations and te

i"parting of infor"ation parti#ularly rele$ant for *o"en planning to #on#ei$e

in#ludes>

? te role of deydration) #old) ypo:ia) o$ere:ertion and stress in te fre;uen#y of si#'le #ell #rises ? o* nausea and $o"iting in pregnan#y #an result in deydration

and te pre#ipitation of #rises ? te ris' of *orsening anae"ia) te in#reased ris' of

#rises and a#ute #est syndro"e ,CS and te ris' of in#reased infe#tion

,espe#ially urinary tra#t infe#tion during pregnan#y ? te in#reased ris' of a$ing a

gro*t!restri#ted %a%y) *i# in#reases te li'eliood of fetal distress) indu#tion of

la%our and #aesarean se#tion. ? te #an#e of teir %a%y %eing a+e#ted %y SCD.

9e assessent !or c"ronic disease co#$ications sould in#lude> ?S#reening

for pul"onary ypertension *it e#o#ardiograpy. tri#uspid regurgitant <et

$elo#ity of "ore tan 2.8 "/se#ond is asso#iated *it a ig ris' of pul"onary

ypertension.S#reening sould %e perfor"ed if tis as not %een #arried out in telast year.

? lood pressure and urinalysis sould %e perfor"ed to identify *o"en *it

ypertension and/or proteinuria. @enal and li$er fun#tion tests sould %e perfor"ed

annually to identify si#'le nepropaty and/or deranged epati# fun#tion.

? @etinal s#reening. Aroliferati$e retinopaty is #o""on in patients *it SCD)

espe#ially patients *it -%SC) and #an lead to loss of $ision. *o"en are s#reened

pre#on#eptually. ? S#reening for iron o$erload. 5n *o"en *o a$e %een "ultiply

transfused in te past or *o a$e a ig ferritin le$el) 92B #ardia# "agneti#

resonan#e i"aging "ay %e elpful to assess %ody iron loading.

ggressi$e iron #elation %efore #on#eption is ad$isa%le in *o"en *o are

signi#antly iron loaded. ? S#reening for red #ell anti%odies. @ed #ell anti%odies "ay

indi#ate an in#reased ris' of ae"olyti# disease of te ne*%orn.

9og 2013 EArior to pregnan#y) up!to!date #e#'s sould %e "ade of te *o"an(s

serology for epatitis and C) -5F and ru%ella) and rele$ant "easures ta'en)

a##ordingly. Se sould %e up!to!date *it pneu"o#o##al and epatitis

i""unisations. 9e *o"an sould %e ta'ing foli# a#id supple"ents ,8 "g daily)

and appropriate peni#illin propyla:is) gi$en in te #onte:t of eiter pre$ious

splene#to"y or fun#tional loss resulting fro" pre$ious spleni# infar#tions. ny oter"edi#ation sould %e re$ie*ed in te #onte:t of possi%le teratogeni#ity) and

stopped or #anged to alternati$es) as appropriate. -ydro:y#ar%a"ide

,ydro:yurea sould %e stopped at least 3 "onts %efore #on#eption. ngiotensin!

#on$erting eny"e ini%itors and angiotensin re#eptor %lo#'ers sould %e stopped

%efore #on#eption.



Genetic counse$$in% sould %e pro$ided as part of te 7 national antenatal

ae"oglo%inopaty s#reening progra""e) *i# *as introdu#ed in 2001. 5deally)

te *o"an(s #arrier status and tat of er partner *ould a$e %een identied as

part of general prepregnan#y ealt ad$i#e prior to planning pregnan#y. ailing tat)

se sould a$e ae"oglo%inopaty s#reening at te ti"e of %oo'ing for antenatal

#are) unless se li$es in a &lo* pre$alen#e( area ,*it fe*er tan 1.8 per 10 000pregnan#ies *it si#'le #ell disease fetuses/ %a%ies per year) in *i# #ase initial

s#reening is underta'en %y as#ertaining er etni#ity) %y a standardised fa"ily

origin ;uestionnaire) follo*ed %y la%oratory testing) *en rele$ant.

Currently 1 in 38 pregnant *o"en in te 7 are identied %y te national s#reening

progra""e as #arrying a ae"oglo%inopaty. 5f er partner also #arries a

signi#ant ae"oglo%inopaty) te e:pe#ted ineritan#e pattern is tat of an

autoso"al re#essi$e #ondition) and geneti# #ounselling #an %e gi$en a##ordingly.

etal testing %y #orioni# $illus sa"pling) a"nio#entesis and fetal %lood sa"pling

are all possi%le) *it teir attendant possi%le #o"pli#ations) and te possi%ility of sele#ti$e ter"ination of te pregnan#y if te fetus is found to %e a+e#ted , tog

2013.

5n addition) tey sould re#ei$e #ounselling a%out te a$aila%ility of

prei"plantation geneti# diagnosis and referred for tis if appropriate. if teir

partner(s status is un'no*n) te fetus sould %e treated as ig ris' for a

ae"oglo%inopaty. Sper" donors sould also %e s#reened for

ae"oglo%inopaties for #ouples #onsidering in $itro fertilisation.

9a%le 1 > Conditions re;uiring #ounselling *en te "oter is a+e#ted %y SCD

CND595N-%S Carrier state

H talassae"ia

!ra%

-%C

D!Aun<a%

in partner *i# re;uires referral for

#ounselling and o+er of prenatal

diagnosis

D talassae"ia

Iepore -%

-ereditary persisten#e of fetal

e"oglo%in ,-A-

Carrier state in partner *i# re;uires

#ounselling and "ay need furter

in$estigation

PREGNANCY& ANTENATAL CARE: 9e le$el of #are and attention in pregnan#y

and te puerperiu" sould %e te sa"e for *o"en *it all types of si#'le #ell

disease ,-% SS) SC) SD or S%0 talassae"ia. ntenatal #are sould %e pro$ided %y

a "ultidis#iplinary tea" in#luding an o%stetri#ian and "id*ife *it e:perien#e of

ig!ris' antenatal #are and a ae"atologist *it an interest in SCD.



9e patient sould %e en#ouraged to #o"e to ospital pro"ptly *ene$er se

e:perien#es sy"pto"s suggesting an i""inent si#'ling #risis) as early support "ay

%e a%le to a$ert a "ore se$ere episode. 9is *ould in#lude enan#ed ydration)

infe#tion s#reen and early re#ourse to anti%ioti#s for any infe#tion) *i# "ay a$e

%een te trigger for te #risis. 9is parti#ularly in#ludes urinary and #est infe#tions)

endo"etritis in te puerperiu") and "alaria in tose *it re#ent foreign tra$el.

#areful assess"ent of er state of o:ygenation sould %e "ade) *it appropriate

support) as rele$ant. 9ro"%opropyla#ti# "easures sould %e instituted.

nalgesia sould %e tailored to te needs of te indi$idual) and is li'ely to in#lude

te use of "orpine) *i# "ay %e "ore e+e#ti$ely ad"inistered troug a patient!

#ontrolled syste". Aetidine is generally a$oided) %e#ause it is less e+e#ti$e) and its

"eta%olites tend to a$e longerlasting depressant e+e#ts) as *ell as a tenden#y to

#ause #on$ulsions. 9e patient sould %e transferred to an intensi$e #are unit

sooner rater tan later) if er #ondition does not respond satisfa#torily.

s a guide) te -% #on#entration) ae"ato#rit) platelet #ount) %iliru%in)

transa"inase and la#tose deydrogenase le$els sould %e #e#'ed e$ery 2 *ee's.

lood pressure #e#'s and urine #e#'s for infe#tion) ae"aturia and proteinuria

sould %e "ade at least e$ery 2 *ee's and "idstrea" urine for #ulture perfor"ed

"ontly.

etal gro*t sould %e "onitored *it "easure"ents %y serial ultrasound s#ans)

=o"en sould %e o+ered a $ia%ility s#an at –K *ee's of gestation) routine rst!

tri"ester s#an ,11–1L *ee's of gestation and a detailed ano"aly s#an at 20 *ee's

of gestation. 5n addition) *o"en sould %e o+ered serial fetal %io"etry s#ans

,gro*t s#ans e$ery L *ee's fro" 2L *ee's of gestation.

9ere sould %e a plan arranged for spe#i# tro"%opropyla#ti# "easures

appropriate for ea# indi$idual. 9ese are li'ely) as a "ini"u") to in#lude daily

in<e#tions of lo* "ole#ular *eigt eparin for 6 *ee's follo*ing deli$ery.

9e ti"ing and "ode of deli$ery is ad$ised a##ording to te rele$ant details of ea#

*o"an(s 5f te *o"an as not %een seen pre#on#eptually) se sould %e o+ered

partner testing.

5f te partner is a #arrier) appropriate #ounselling sould %e o+ered as early as

possi%le in pregnan#y – ideally %y 10 *ee's of gestation – to allo* te option of rst!tri"ester diagnosis and ter"ination if tat is te *o"an(s #oi#e

ad$ised to ta'e daily foli# a#id and propyla#ti# anti%ioti#s ,if not #ontraindi#ated.

Drugs tat are unsafe in pregnan#y sould %e stopped i""ediately. 5ron

supple"entation sould %e gi$en only if tere is la%oratory e$iden#e of iron

de#ien#y.



=o"en *it SCD sould %e #onsidered for lo*!dose aspirin 8 "g on#e daily fro"

12 *ee's of gestation in an e+ort to redu#e te ris' of de$eloping pre!e#la"psia.

Non!steroidal anti!inMa""atory drugs ,NS5Ds sould %e pres#ri%ed only %et*een

12 and 2 *ee's of gestation o*ing to #on#erns regarding ad$erse e+e#ts on fetal

de$elop"ent.

Routine #ro#"'$actic trans!usion is not re#o""ended during pregnan#y for

*o"en *it SCD. 5f a#ute e:#ange transfusion is re;uired for te treat"ent of a

si#'le #o"pli#ation li'e a#ute stro'e ) it "ay %e appropriate to #ontinue te

transfusion regi"en for te re"ainder of te pregnan#y.

lood sould %e "at#ed for an e:tended penotype in#luding full resus typing

,C) D and as *ell as 7ell typing. lood used for transfusion in pregnan#y sould

%e #yto"egalo$irus negati$e.

9op!up( transfusion is indi#ated for *o"en *it a#ute anae"ia. Acute anaeia

"ay %e attri%uta%le to transient red #ell aplasia) a#ute spleni# se;uestration or te

in#reased ae"olysis and $olu"e e:pansion en#ountered in SCD.

9ere is no a%solute le$el at *i# transfusion sould %e underta'en and te

de#ision "ust %e "ade in #on<un#tion *it #lini#al ndings) %ut ae"oglo%in under

6 g/dl or a fall of o$er 2 g/dl fro" %aseline is often used as a guide to transfusion.

lloi""unisation ,te for"ation of anti%odies to red #ell antigens is #o""on in

SCD) o##urring in 1–36O of patients.

9a%le . 5ndi#ations for %lood transfusion in pregnan#y #o"pli#ated %y SCD

5ND5C95N C44N9S=o"en *it pre$ious serious "edi#al)

o%stetri# or fetal #o"pli#ations

:#ange or top!up transfusion "ay %e

indi#ated depending on #lini#al

indi#ations and sould %e de#ided in te

"ultidis#iplinary #lini# setting=o"en *o are on a transfusion regi"en

%efore pregnan#y for pri"ary or

se#ondary stro'e pre$ention or for te

pre$ention of se$ere disease

#o"pli#ations

9ransfusion sould %e #ontinued during

pregnan#y

9=5N A@GNNCP Aropyla#ti# transfusion sould %e#onsidered o*ing to te ig rate of

#o"pli#ations in tese *o"en#ute anae"ia 9op!up transfusion#ute #est syndro"e or a#ute stro'e :#ange transfusion



Acute Pain!u$ crisis is te "ost fre;uent #o"pli#ation of SCD during pregnan#y)

*it %et*een 2O and 80O and it is te "ost fre;uent #ause of ospital ad"ission.

$oidan#e of pre#ipitants su# as a #old en$iron"ent) e:#essi$e e:er#ise)

deydration and stress is i"portant.4ild pain "ay %e "anaged in te #o""unity

*it rest) oral Muids and para#eta"ol or *ea' opioids. NS5Ds sould %e used only%et*een 12 and 2 *ee's of gestation. Ari"ary #are pysi#ians sould a$e a lo*

tresold for referring *o"en to se#ondary #areQ all *o"en *it pain *i# does

not settle *it si"ple analgesia) *o are fe%rile) a$e atypi#al pain or #est pain or

sy"pto"s of sortness of %reat sould %e referred to ospital.

=o"en *it SCD *o %e#o"e un*ell sould a$e si#'le #ell #risis e:#luded as a

"atter of urgen#y nd sould %e loo'ed after %y te "ultidis#iplinary tea")

in$ol$ing o%stetri#ians) "id*i$es) ae"atologists and anaestetists. 9e

re;uire"ent for Muids and o:ygen sould %e assessed) and Muids and o:ygen

ad"inistered if re;uired.

9ro"%opropyla:is sould %e gi$en to *o"en ad"itted to ospital *it a#ute

painful #risis. 5nitial analgesia sould %e gi$en *itin 30 "inutes of arri$ing at

ospital and e+e#ti$e analgesia sould %e a#ie$ed *itin 1 our.

9e =orld -ealt rganiation analgesi# ladder sould %e used) starting *it

para#eta"ol for "ild painQ NS5Ds #an %e used for "ild to "oderate pain %et*een

12 and 2 *ee's of gestation. =ea' opioids su# as #o!dydra"ol) #o!#oda"ol or

diydro#odeine #an %e used for "oderate pain) and stronger opiates su# as

"orpine #an %e used for se$ere pain.

ssess"ents of pain s#ore) sedation s#ore and o:ygen saturation sould %e

perfor"ed at least 2! ourly using a "odied o%stetri# early *arning #art.

o: 1. utline of "anage"ent of a#ute pain

@apid #lini#al assess"ent5f pain is se$ere and oral analgesia is not e+e#ti$e) gi$e strong opioids ,e.g.

"orpineGi$e ad<u$ant non!opioid analgesia> para#eta"ol) NS5D ,if 12–2 *ee's of

gestationAres#ri%e la:ati$es) antipruriti# and antie"eti# if re;uired4onitor pain) sedation) $ital signs) respiratory rate and o:ygen saturation e$ery 20–

30 "inutes until pain is #ontrolled and signs are sta%le) ten "onitor e$ery 2 ours,ourly if re#ei$ing parenteral opiatesGi$e a res#ue doses of analgesia if re;uired5f respiratory rate is less tan 10/"inute) o"it "aintenan#e analgesiaQ #onsider

nalo:oneConsider redu#ing analgesia after 2–3 days and repla#ing in<e#tions *it e;ui$alent

dose of oral analgesiaDis#arge te *o"an *en pain is #ontrolled and i"pro$ing *itout analgesia or on



a##epta%le doses of oral analgesiarrange any ne#essary o"e #are and outpatient follo*!up appoint"ent.

ll patients) #arers) "edi#al and nursing sta+ sould %e a*are of te oter acute

co#$ications o! SCD( inc$udin% ACS( acute stro)e and acute anaeia*

a# ospital sould a$e a proto#ol in pla#e for te "anage"ent of ACS in

pregnan#y) in#luding te use of transfusion terapy. CS is te 2 nd "ost #o""on

#o"pli#ation) reported in –20O of pregnan#ies. CS is #ara#terised %y respiratory

sy"pto"s su# as ta#ypnoea) #est pain) #oug and sortness of %reat in te

presen#e of a ne* inltrate on te #est R!ray.

9e signs and sy"pto"s of CS are te sa"e as tose of pneu"onia) so %ot

sould %e treated si"ultaneously. #ute se$ere infe#tion *it te -1N1 $irus in

pregnan#y #an #ause a si"ilar #lini#al pi#ture) and in$estigation and treat"ent for

tis sould %e instituted.

9reat"ent is *it intra$enous anti%ioti#s) o:ygen and %lood transfusion) as in non!

pregnant *o"en.9op!up %lood transfusion "ay %e re;uired if te ae"oglo%in is

falling) and #ertainly if te ae"oglo%in is less tan 6.8 g/dl) %ut in se$ere ypo:ia)

and if te ae"oglo%in le$el is "aintained) e:#ange transfusion *ill %e re;uired.

Acute stro)e( +ot" in!arcti,e and "aeorr"a%ic) is asso#iated *it SCD and

tis diagnosis sould %e #onsidered in any *o"an *it SCD *o presents *it

a#ute neurologi#al i"pair"ent. #ute stro'e is a "edi#al e"ergen#y and a rapid!

e:#ange %lood transfusion #an de#rease long!ter" neurologi#al da"age. 5f a stro'e

is suspe#ted) te *o"an sould a$e urgent %rain i"aging and te ae"atologist

sould %e #alled for #onsideration of urgent e:#ange transfusion. 9ro"%olysis is

not indi#ated in a#ute stro'e se#ondary to SCD. #ute anae"ia in *o"en *it SCD

"ay %e attri%uta%le to erytro$irus infe#tion. 5nfe#tion *it erytro$irus in SCD

#auses a red #ell "aturation arrest and an aplasti# #risis #ara#terised %y a

reti#ulo#ytopenia. 9erefore) a reti#ulo#yte #ount sould %e re;uested in any

*o"an presenting *it an a#ute anae"ia and) if lo*) "ay indi#ate infe#tion *it

erytro$irus.

9reat"ent is *it %lood transfusion and te *o"an "ust %e isolated. =it

erytro$irus infe#tion tere is te added ris' of $erti#al trans"ission to te fetus)

*i# #an result in ydrops fetalis) en#e a re$ie* %y a fetal "edi#ine spe#ialist isindi#ated.

INTRAPART-M CARE> Aregnant *o"en *it SCD *o a$e a nor"ally gro*ing

fetus sould %e o+ered ele#ti$e %irt troug indu#tion of la%our) or %y ele#ti$e

#aesarean se#tion if indi#ated) after 30 *ee's of gestation. SCD sould not in

itself %e #onsidered a #ontraindi#ation to atte"pting $aginal deli$ery or $aginal

%irt after #aesarean se#tion.



lood sould %e #ross!"at#ed for deli$ery if tere are atypi#al anti%odies present

,sin#e tis "ay delay te a$aila%ility of %lood) oter*ise a &group and sa$e( *ill

suT#e. 5n *o"en *o a$e ip repla#e"ents ,%e#ause of a$as#ular ne#rosis it is

i"portant to dis#uss suita%le positions for deli$ery.

9e ris's of a%ruption) pre!e#la"psia) peripartu" #ardio"yopaty and a#ute si#'le#ell #risis are in#reased and unpredi#ta%le. 5t is te opinion of te de$elopers tat)

li'e "ost &ig!ris'( #onditions) deli$ery of te %a%y at 3–L0 *ee's of gestation *ill

pre$ent late pregnan#y #o"pli#ations and asso#iated ad$erse perinatal e$ents.

=o"en *it SCD sould %e ad$ised to gi$e %irt in ospitals tat are a%le to

"anage %ot te #o"pli#ations of SCD and ig!ris' pregnan#ies.

9e rele$ant "ultidis#iplinary tea" ,senior "id*ife in #arge) senior o%stetri#ian)

anaestetist and ae"atologist sould %e infor"ed as soon as la%our is #onr"ed.

=o"en sould %e 'ept *ar" and gi$en ade;uate Muid during la%our. Continuous

intrapartu" ele#troni# fetal eart rate "onitoring is re#o""ended o*ing to tein#reased ris' of fetal distress *i# "ay ne#essitate operati$e deli$ery.

rterial %lood gas analysis sould %e perfor"ed and o:ygen terapy instituted if

o:ygen saturation is KLO or less. ourly o%ser$ations of $ital signs sould %e

perfor"ed. raised te"perature ,o$er 3.8UC re;uires in$estigation.

9e #lini#ian sould a$e a lo* tresold to #o""en#e %roadspe#tru" anti%ioti#s.

=o"en *it SCD sould %e o+ered anaesteti# assess"ent in te tird tri"ester of

pregnan#y. $oid te use of petidine) %ut oter opiates #an %e used. @egional

analgesia is re#o""ended for #aesarean se#tion.

POST PART-M CARE 5n pregnant *o"en *ere te %a%y is at ig ris' of SCD,i.e. te partner is a #arrier or a+e#ted) early testing for SCD sould %e o+ered.

Capillary sa"ples sould %e sent to la%oratories *ere tere is e:perien#e in te

routine analysis of SCD in ne*%orn sa"ples.

9is *ill usually %e at a regional #entre. 4aintain "aternal o:ygen saturation a%o$e

KLO and ade;uate ydration %ased on Muid %alan#e until dis#arge.

Io*!"ole#ular!*eigt eparin sould %e ad"inistered *ile in ospital and days

post!dis#arge follo*ing $aginal deli$ery or for a period of 6 *ee's follo*ing

#aesarean se#tion.

9e sa"e le$el of #are and $igilan#e sould %e "aintained as as %een des#ri%ed

for antenatal #are) sin#e a#ute #risis and oter #o"pli#ations of SCD re"ain a ris' in

te puerperiu".

Contrace#tion: Arogestogen!#ontaining #ontra#epti$es su# as te progesterone

only pill ) in<e#ta%le #ontra#epti$es ,Depo!and te le$enorgestrel intrauterine



syste" ,4irenaV) are safe and e+e#ti$e in SCD. strogen!#ontaining #ontra#epti$es

sould %e used as se#ond!line agents.



TA.LE /* Spe#i# antenatal #are for *o"en *it SCD

A##ointent Care !or 0oen 0it" SCD durin% #re%nanc'=at sould appen

at

te rst

appoint"entW

+er infor"ation) ad$i#e and support in relation to opti"ising

general ealt

Ari"ary #are or

ospital

appoint"ent

+er partner testing if not already doneQ re$ie* partner results if

a$aila%le and dis#uss AND if appropriate

9a'e a #lini#al istory to esta%lis e:tent of SCD and its

#o"pli#ations

@e$ie* "edi#ations and its #o"pli#ationsQ if ta'ing

ydro:y#ar%a"ide) C ini%itors or @s) tese sould %e stopped

=o"en sould already %e ta'ing 8 "g foli# a#id and anti%ioti#

propyla:is if no #ontraindi#ation

Dis#uss $a##inations

+er retinal and/or renal and/or #ardia# assess"ents if tese a$enot %een perfor"ed in te pre$ious year

Do#u"ent %aseline o:ygen saturations and %lood pressure Send

4S for C/S.–K *ee's Conr" $ia%ility in $ie* of te in#reased ris' of "is#arriage=at sould appen

at te %oo'ing

appoint"entW

See "id*ife *it

e:perien#e in ig!

ris' o%stetri#s if

possi%le

Dis#uss infor"ation) edu#ation and ad$i#e a%out o* SCD *ill a+e#t

pregnan#y

@e$ie* partner results and dis#uss AND if appropriate

aseline renal fun#tion test) urine protein/#reatinine ratio) li$er

fun#tion test and ferritin sould %e perfor"ed

:tended red #ell penotype if not pre$iously perfor"ed

Conr" tat all a#tions fro" rst $isit are #o"plete

Consider lo*!dose aspirin fro" 12 *ee's of gestation16 *ee's> see

"id*ife plus

"ultidis#iplinary

re$ie*

@outine as per N5CQ repeat 4S

4ultidis#iplinary re$ie* ,#onsultant o%stetri#ian and ae"atologist

20 *ee's > see

"id*ife

"ultidis#iplinary

tea"

plus Detailed ultrasound as per N5C antenatal guideline

@epeat 4S

@epeat C

2L *ee's >

"ultidis#iplinary

tea"

ltrasound "onitoring of fetal gro*t and a"nioti# Muid $olu"e.

@epeat 4S

26 *ee's> see

"id*ife

@outine #e#' in#luding %lood pressure and urinalysis

2 *ee's> see

"ultidis#iplinary

tea"

ltrasound "onitoring of fetal gro*t and a"nioti# Muid $olu"e.

@epeat 4S @epeat C and group and anti%ody s#reen.

30 *ee's> see

"id*ife and o+er

/N #lasses

@outine #e#' in#luding %lood pressure and urinalysis



32 *ee's> see

"ultidis#iplinary

tea"

@outine #e#' ltrasound "onitoring of fetal gro*t and a"nioti#

Muid $olu"e @epeat 4S and C

3L *ee's> see

"id*ife

@outine #e#' in#luding %lood pressure and urinalyis

36 *ee's> see

"ultidis#iplinarytea"

@outine #e#' ltrasound "onitoring of fetal gro*t and a"nioti#

Muid $olu"e +er infor"ation and ad$i#e a%out> X ti"ing) "ode and"anage"ent of te %irt X analgesia and anaestesiaQ arrange

anaesteti# assess"ent X #are of %a%y after %irt3 *ee's> see "*

and o%stetri#ian

@outine #e#' @e#o""end indu#tion of la%our or #aesarean se#tion

%et*een 3 and L0 *ee's of gestation

3K *ee's> see

"id*ife

@outine #e#' and re#o""end deli$ery %y L0 *ee's of

gestationL0 *ee's> see

o%stetri#ian

@outine #e#' and o+er fetal "onitoring if te *o"an de#lines

deli$ery %y L0 *ee's of gestation



S.A

1 Co"pli#ations seen *it in#reased fre;uen#y during pregnan#y in *o"en *it

si#'le #ell trait in#lude all e:#ept>

. #est syndro"e.

. a#ute pyelonepritis

C. 4alaria

D. #ute stro'e

. #ute anae"ia

ns> #

2 9reat"ent of a patient *it an a#ute si#'ling #risis re;uiring ad"ission in ospital

ad"ission in pregnan#y sould usually in#lude e:#ept >

.lo* "ole#ular *eigt eparin in<e#tions.

. %lood transfusion.

C. intra"us#ular in<e#tion of petidine for analgesia.

D. nalgesia sould %e tailored to te needs of te indi$idual) and is li'ely to

in#lude te use of "orpine) *i# "ay %e "ore e+e#ti$ely ad"inistered troug a

patient!#ontrolled syste".

ns> C EAetidine is generally a$oided) %e#ause it is less e+e#ti$e) and its"eta%olites tend to a$e longer!lasting depressant e+e#ts) as *ell as a tenden#y to

#ause #on$ulsions.

@ef tog pril 2013



3 follo*ing "edi#ation sould %e stopped in a *o"an *it si#'le #ell disease *o

is trying to #on#ei$e e:#ept>

.$ita"in C

.ydro:y#ar%a"ide.

C. desferrio:a"ine.

D.C ii%itors

ns #E ref tog 2013

L follo*ing #o"pli#ations o##ur *it in#reased fre;uen#y in pregnan#ies in *o"en

*it si#'le #ell disease>

se$ere pre!e#la"psia.

pla#ental a%ruption.

C Aeri partu" #ardio"yopaty

D Ala#enta prae$ia

ns >D 9e ris's of a%ruption) pre!e#la"psia) peripartu" #ardio"yopaty and a#ute

si#'le #ell #risis are in#reased and unpredi#ta%le in SCD. 5t is te opinion of te

de$elopers tat) li'e "ost &ig!ris'( #onditions) deli$ery of te %a%y at 3–L0

*ee's of gestation *ill pre$ent late pregnan#y #o"pli#ations and asso#iated

ad$erse perinatal e$ents

@ef> @#og guideline on SCD



8 =it regard to pregnan#ies in *o"en *it si#'le #ell disease in te 7) follo*ing

is true state"ent)

. te perinatal "ortality rate is a%out dou%le te o$erall national rate.

. te "aternal "ortality rate is a%out 220 ti"es iger tan te o$erall national

rate.

C.5n te 7) it is esti"ated tat tere are 12 0000–18 0000 a+e#ted indi$iduals and

o$er 30000 infants %orn *it SCD in te 7 ea# year *o are diagnosed as part of

te neonatal s#reening progra""e.

D.9ere are appro:i"ately 100–200 pregnan#ies in *o"en *it SCD per year in

te 7 -ae"oglo%in

ns D 9ere are appro:i"ately 100–200 pregnan#ies in *o"en *it SCD per year in

te 7 -ae"oglo%in S #o"%ined *it nor"al ae"oglo%in ,) 'no*n as si#'le trait

,S) is asy"pto"ati#) e:#ept for a possi%le in#reased ris' of urinary tra#t infe#tionsand "i#ros#opi# ae"aturia.

@ef tog pril 2013 n @#og guideline on SCD.

6 28!year!old pregnant *o"an *it si#'le #ell disease attends te antenatal

#lini# at *ee's of gestation. =at prenatal testing sould %e dis#ussed in te rst

instan#eW

. "nio#entesis

. Corioni# $illus %iopsy

C. etal se:ing at 10 *ee's of gestation

D. Nonin$asi$e prenatal testing

. Aartner testing

9e #orre#t ans*er is partner testing. 5deally tis *ill a$e %een as#ertained tis in

ad$an#e. Are#on#eption #ounselling is $ery i"portant if te #ouple are identied as

an Yat ris' #oupleY. 9is is not <ust if er partner #arries -%S) %ut also if tere are

oter #onditions dete#ted) e.g. H! talassae"ia or -%C.



28!year!old *o"an *it si#'le #ell disease is #onsidering a$ing a #ild *it

er partner *o as si#'le #ell trait. =at is te pro%a%ility tat te #ild *ill a$e

si#'le #ell diseaseW

. 28O

. 33O

C. 80O

D. 8O

. 100O

9e #orre#t ans*er is 80O.

ollo*ing s#reening) tis #ouple is identied as Yat ris'Y. 9ey need #ounselling and

ad$i#e a%out teir reprodu#ti$e options) in#luding te "etods and ris's of prenatal

s#reening and ter"ination of pregnan#y.

See @oyal College of %stetri#ians and Gynae#ologists. 4anage"ent of si#'le #ell

disease in pregnan#y. Green!top Guideline 61. Iondon> @CG. 2011.



EM12s

4anage"ent of a%do"inal pain in pregnan#y in SCD *o"en

. "idstrea" urine #ulture and intra$enous anti%ioti#. #onser$ati$e "anage"ent

C. #ardioto#ogra"D. appendi#e#to"y. diagnosti# laparos#opy. laparoto"yG. #ole#yste#to"y-. oral anti%ioti#s5. pysioterapy

J. stop opioid analgesia7. reydration *it intra$enous MuidsI. si"ple analgesia 4 laparos#opi# re"o$al of #yst/oopore#to"y4. %ladder #ateterisationN. re$ie* in 2 *ee's

. none of te a%o$e

or ea# des#ription %elo*) #oose te single "ost appropriate ans*er fro" te

a%o$e list of options. a# option "ay %e used on#e) "ore tan on#e) or not at all.

Z.1 3L!year!old fro!Cari%%ean lady is ad"itted to te deli$ery suite at 32 *ee's(

gestation *it se$ere a%do"inal pain. Se is a 'no*n si#'le #ell disease patient.

ltrasound so*s a nor"ally gro*n fetus *it no o%$ious uterine %roids. Se ad

an episode of diarroea 3 days ago. %do"inal and $aginal e:a"ination are nor"al.

ns> 7 Si#'le #ell #risis #ould %e pre#ipitated %y deydration and needs aggressi$e

Muid terapy.

@ef 4Zs for te 4@CG Aart 2 self!assess"ent guide %y -odder arnold



ption list for Zuestions 2–3

.nti%ioti#s – intra$enous

.nti#oagulation – full

C.le#ti$e #aesarean se#tion

D."ergen#y #aesarean se#tion

.5ndu#tion of la%our

.5ntra"us#ular opiates

G.5ntra$enous Muids

-.5ntra$enous Muids and tro"%opropyla:is

5.5ntra$enous Muids) anti%ioti#s and tro"%opropyla:is

J.Iu"%ar epidural

7.4iddle #ere%ral artery Doppler

I.Steroids

4.9ro"%olysis

N.9ro"%opropyla:is

.9ransfusion *it red #ells

A."%ili#al artery Doppler

Z.9ransfusion *it *ole %lood

5nstru#tions> or ea# of te follo*ing #lini#al s#enarios) #oose te single "ost

appropriate inter$ention fro" te option list a%o$e. a# inter$ention "ay %e

sele#ted on#e) "ore tan on#e or not at all.

Z 2 23!year!old *o"an) 'no*n to a$e si#'le #ell anae"ia ,-%SS) presents in

er rst pregnan#y at 3L *ee's( gestation feeling generally un*ell. 9e fundal

eigt "easures 32 #". n e:a"ination se is found to a$e a "ild te"peratureand a %lood pressure of 1L0/68 ""-g. 9ere is nitrites [ and protein [ in er urine.

-er ae"oglo%in is . g/dI.

Z3 2!year!old *o"an) 'no*n to a$e si#'le #ell anae"ia ,-%SC) presents at 3L

*ee's *it nausea and $o"iting of 3 days( duration. n e:a"ination) er

te"perature is 36.KC) er pulse is 2 %p" and er %lood pressure is 110/68

""-g. 9e uterine fundus "easures 32 #") te lie of te fetus is longitudinal and



C9G is nor"al. 9e #er$i: is #losed. rinalysis re$eals nitrites [) leu#o#ytes [)

proteins [. -er ae"oglo%in is .8 g/dI.

ns>2 . 59e "ost li'ely pro%le"s in tis patient are urinary tra#t infe#tions and

pseudoto:ae"ia of pregnan#y. Aseudoto:ae"ia is #ara#teried %y systoli#

ypertension and proteinuria) and typi#ally o##urs in *o"en *it si#'le #ellanae"ia. one "arro* e"%olis" is te "ost dreaded #o"pli#ation. 9erefore) in

tis patient a #o"%ination of intra$enous Muids) anti%ioti#s and tro"%opropyla:is

*ould %e te "ost suita%le treat"ent option. n#e te diagnosis is suspe#ted) te

%a%y sould %e deli$ered.

3 5. 9e "ost li'ely #ause of tese sy"pto"s is urinary tra#t infe#tions. 9e

$o"iting and pyre:ia *ill in#rease te ris' of $enous tro"%oe"%olis". 5ntra$enous

anti%ioti#s and tro"%opropyla:is are terefore te %est treat"ent options.

@ef > get troug e"; %oo' for "r#og part 2



ption list for Zuestions 1–L

1>1

.1>2

C.1>3

D.1>L

.1>8

.1>10

G.1>20

-.1>28

5.1>80

J.1>8

7.1>100

I.1>180

4.1>200

N.1>280

.1>800

A.1>80

Z.1>1000

@.1>1800

S.1>2800

9.1>8000

.1>800

F.1>10 000

=.1>28 000

R.1>80 000

P.No ris'



5nstru#tions> #ouple attend for pre!pregnan#y #ounselling a%out si#'le #ell

disease. 9e genotype of te *o"an is -%S and tat of te us%and -%C. or

ea# of te ;uestions raised %y te #ouple %elo*) sele#t fro" te option list a%o$e

te single "ost appropriate ris' esti"ate tat you *ill gi$e te". a# option "ay

%e sele#ted on#e) "ore tan on#e or not at all.

ZL =at is te ris' of te #ouple a$ing a #ild *it si#'le -%SC diseaseW

Z 8 =at is te ris' of teir #ild %eing a #arrier of te C genotypeW

Z6 =at is te ris' of teir #ild a$ing a nor"al genotypeW

Z 5f teir daugter *ere a #arrier and "arried a "an *it si#'le #ell anae"ia)

*at *ould %e te ris' of teir grand#ild a$ing si#'le #ell anae"iaW

ns> L D. 1>L

8 D. 1>L

6 D. 1>L

. 1>2

Sin#e %ot potential parents are #arriers) te ris' of any o+spring a$ing si#'le #ell

-%SC disease *ill %e 1>L. 9e ris' of a$ing a %a%y *o *ill %e a #arrier is 1>L for

%ot -%S and -%C genotypes. 9e ris' of a$ing an una+e#ted #ild is 1>L. 5f

teir daugter *as a #arrier) and se "arried an a+e#ted "ale) ten te ris' of tis

#ouple a$ing a grand#ild *it si#'le #ell disease *ill %e 1>2.




ption list for Zuestions

."nio#entesis for #ro"oso"es

."nio#entesis for DN

C."nio#entesis for D L80

D.Corioni# $illous sa"pling for 'aryotype

.Corioni# $illous sa"pling for DN

.Coelo#entesis

G.Cer$i#al Musing

-.etal 4@5

5.DN fro" #lean $oided spe#i"en

J.DN fro" a"nio#entesis

7.Io* ris' – en#e reassuran#e

I.etal %lood sa"ple ,#ordo#entesis

4.etal DN in "aternal #ir#ulation

N.etal #ells in "aternal #ir#ulation

.4aternal %lood for DN

A.Aaternal %lood for DN

Z.ltrasound s#an

5nstru#tions> 9e patients %elo* presented for antenatal #ounselling a%out te ris'

of teir %a%y a$ing an inerited disorder. Sele#t fro" te option list a%o$e list te

single "ost appropriate pie#e of ad$i#e tat you *ould o+er te patient. a#

option "ay %e used on#e) "ore tan on#e or not at all.

28!year!old *o"an) 'no*n to a$e -%S) attends at 10 *ee's( gestation for

prenatal #ounselling a%out te ris' of er %a%y a$ing si#'le #ell disease. -erpartner is -%C.

ns> . ot parents are #arriers of te si#'le #ell trait. 9e ris' of teir %a%y

a$ing si#'le #ell -%SC is 1>L. 9ey sould) terefore) %e o+ered testing in order to

deter"ine te genotype of te %a%y. t tis early gestation tis is #o""only

perfor"ed troug #orioni# $illous sa"pling.

scd summary and sba n emqs

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