Sort markers in second trimester - PowerPoint Presentation

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Sort markers in second trimester

d

r faraji , perinatologist in sums

Slide3

Soft

markersultrasound findings of uncertain

significance

often

with

normal

fetuses

usually

no

clinical

seque

l

lae

transient

,

resolving with

advancing

gestation

or

after

birth

increased

risk

for

fetal

aneuploidy

Slide4

“isolated”

soft

marker in the absence of any fetal structural anomaly

growth restriction

additional

soft marker

Slide5

SOFT

MARKERSIncreased nuchal fold

Absent

nasal

bone

Echogenic

bowelPyelectasisShortened long bones (humerus , femur)Echogenic intracardiac focusChoroid plexus cysts

Slide6

SECOND

TRIMESTER NUCHAL

FOLDnuchal fold is between the

outer

edge

of

the

occipital

bone to the outer margin of the skin in the axial planethickened nuchal fold as>=6mm between 15 and 20 weeks of gestation.

LR:11-17

; may decreases over gestation

Slide7

no

previous aneuploidy screening and isolated thickened nuchal

fold :discussion of options for noninvasive aneuploidy screening via cfDNA or quad screen if cfDNA is unavailable or cost-prohibitive

diagnostic

testing via

amniocentesis

depending

on clinical circumstances and patient preference (GRADE 1B).

Slide8

negative

serum screening results and isolated thickened nuchal

fold: discussion of options for no further aneuploidy evaluationnoninvasive aneuploidy screening via cfDNA

diagnostic

testing via

amniocentesis

depending

on clinical circumstances and patient preference (GRADE 1B

) negative cfDNA screening results and isolated thickened nuchal fold, no further aneuploidy evaluation (GRADE 1B)

Slide9

Regardless of the aneuploidy evaluation

,

serial ultrasound examinations are not indicatedConflicting evidence regarding association of a thickened nuchal fold and congenital heart diseaseif

cardiac anatomy has been adequately visualized and

is

normal, no further imaging is

necessary

Slide10

SECOND

TRIMESTER

ABSENT NASAL BONEsensitivity for

Down

syndrome

is

lower than in the first trimesterAffected by race and ethnicity

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Options

include:*

BPD

/

NB thresholds of > 9 to > 1 2 , OR >=10 or 11*abnormal nasal bone length

(

≤ 2. .5 mm

)

*a

gestational

age-based

threshold

(

<

2

.

5

th

or

5

th

centile

)

*use

of

multiple

of

the

median

(

MoM

)

of

nasal

bone

length

for

gestational

age

(

<

0.75

MoM

).

or

≤. 7

In

a

systematic review,

the

MoM

method

appeared

to

have

the

best

combination

of

sensitivity

and

specificity

(54

and

94

percent,

respectively

Slide13

For

pregnant people with no previous aneuploidy screening and isolated absent or

hypoplastic nasal bonediscussion of options for noninvasive aneuploidy screening through cfDNA or quad screen if cfDNA is unavailable or cost-prohibitive

diagnostic

testing via

amniocentesis

depending

on clinical circumstances and patient preference (GRADE 1B).

Slide14

For pregnant people with negative serum screening

results

discussion of options for no further aneuploidy evaluationnoninvasive aneuploidy screening via cfDNA, or diagnostic testing via amniocentesisdepending

on clinical circumstances and patient preference (GRADE 1B

)

For pregnant people with negative

cfDNA

screening

no further aneuploidy evaluation (GRADE 1B).

Slide15

ECHOGENIC

BOWELEchogenic bowel is often isolated

increased incidence of structural anomalies, particularly renal and cardiac anomalies

other

chromosomal defects,

fetal

growth

restriction,cystic fibrosis, congenital infection, intraamniotic bleeding, and gastrointestinal obstructionsecondary to fetal swallowing of blood may persist for 2 to 4 weeks

Slide16

echogenicity

equal to or greater than that of the surrounding fetal bone, typically the iliac wing

. higher frequency transducers and higher gain settings tend to exaggerate the finding a

lower frequency transducer (5 MHz) with harmonic imaging turned off and set at a lower gain should be used to confirm the diagnosis.

Slide17

no

previous aneuploidy screening and isolated

echogenic bowelcounseling to estimate the probability of trisomy 21 and a discussion of options noninvasive aneuploidy screening with cfDNA

or quad screen if

cfDNA

is unavailable or cost-prohibitive (GRADE 1B

)

not recommend diagnostic testing solely for this indicationnegative serum or cfDNA screening results and isolated fetal echogenic bowel, no further aneuploidy evaluation (GRADE 1B).

Slide18

Cystic fibrosis is associated with echogenic

bowel

The risk for cystic fibrosis ranges from 0% to 13% The finding of dilated loops of bowel in addition to echogenic bowel increase to17%Parental cystic fibrosis carrier status should be

determined

If both parents are carriers, genetic counseling for risks and benefits of invasive testing for fetal genotyping.

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congenital infection

with isolated echogenic bowel CMV is the most commonly infectiontoxoplasmosis, rubella, herpes, varicella, and parvovirus have been reported.

Without a history of exposure or other clinical risk factors, the chance of positive results for other congenital infections is very low

routine testing for other infections may not be useful

Slide20

isolated

echogenic bowel is associated with FGR, with an odds ratio (OR) of

2.37 due to areas of ischemia resulting from the redistribution of blood flow away from the gut recommend a third-trimester ultrasound examination for reassessment and evaluation of fetal growth for all fetuses with isolated echogenic bowel (GRADE 1C).

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PY

E

LECTASiSAP diameter

of

renal

pelvice

≥ 4 mm at 15 to 19 weeks of gestationpyelectasis is usually

caused

by vesicoureteral reflux, but

may

be

related

to

obstruction

M

i

l

d

d

i

la

t

i

o

n

(

i

e

,

4

t

o

7 mm in the second trimester) typically resolves in 80% of cases.

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Several terms

for UTD

, including pyelectasis, pelviectasis, and hydronephrosis. positive LR of 1.5, suggesting a minimal

risk

pregnant

people with no previous aneuploidy screening

,

cfDNA

or quad screen if cfDNA is unavailable or cost-prohibitive (GRADE 1B)not recommend diagnostic testing solely for this indicationnegative serum or cfDNA screening results and isolated UTD, recommend no further aneuploidy evaluation (GRADE 1B)

Slide24

anterior-posterior renal pelvis

< 4mm is normal between 16 and 27 weeks and<7mmmm between 28 and deliveryThe complete evaluation of the urinary tract results in the classification of A1 (low risk) vs A2-3 (increased risk) UTD

isolated

UTD A1,

recommend

an ultrasound examination at ‡32 weeks of gestation to determine if postnatal pediatric urology or nephrology

follow up

is neededresolved UTD A1 at the third-trimester requires no postnatal follow-up UTD A2-3, recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C)

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VENTRICULOMEGALY

Isolated

ventriculomegaly is a

risk

factor

for Down syndrome,Most children with isolated, mild ventriculomegaly have a normal outcomeThe risk of abnormal outcome, such as Down syndrome, increases with the

degree of ventriculomegaly, progression of ventriculomegaly,

and presence of other anomalies

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SHORTENED

LONG

BONESA shortened humerus appears to

be

a

better

predictor

of

Down syndrome than a shortened femur consider abnormal an observed-to-expected length ratio of less than 0.9severely shortened (< 5 th

percentile)

or abnormal appearing long bones

may

be

a

sign

of

a

skeletal

dysplasia

or

early onset

fetal

growth

restriction

Parental race and ethnicity can lead to constitutionally short bones

Slide28

no

previous aneuploidy screening and isolated shortened

humerus, femur, or bothoptions for noninvasive aneuploidy screening with cfDNA or quad screen if cfDNA is unavailable or cost-prohibitive (GRADE 1B

)

not

recommend diagnostic testing solely for this

indication

negative

cfDNA or serum screening results and isolated shortened humerus, femur, or both, no further aneuploidy evaluation (GRADE 1B).

Slide29

shortened

humerus

, femur, or both is associated with skeletal dysplasia measurement of all appendicular bones should be performed many fetuses with skeletal dysplasias fall below the third percentile for bone length measurements in the second trimester of pregnancy

except for

achondroplasia

, which may not manifest until the third trimester of pregnancy

Slide30

isolated shortened

humerus, femur, or both are associated with FGR recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C)

Slide31

ECHOGENIC

INTRACARDIAC

FOCUS EIF is small < 6mm echogenic area in either cardiac ventricle bright as the surrounding bone

visualized in at least 2 separate planes

occur

as

a single focus in the left ventricle, but multiple foci, biventricular foci, or a right ventricular location can also occur.

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microcalcification

and fibrosis of the

papillary muscle

or

chordae,

often disappears later in pregnancy or postnatallyis not associated with

myocardial

dysfunction or structural anomalies

Slide34

The

best available evidence suggests

that

an

isolated

focus does not confer an increased risk of fetal aneuploidysome studies have reported that the number or location of echogenic foci

affects

the risk of fetal aneuploidy

(higher

risk

with

biventricular

or

right

ventricular

involvement

)

the

general

consensus

is

that

these

factors

have

not

been

proven

to

matter

Slide35

no

previous aneuploidy screening and an isolated EIF

, noninvasive aneuploidy screening with cfDNA or quad screen if cfDNA is unavailable or cost-prohibitive (GRADE 1B) not recommend diagnostic testing solely for this indication

negative serum or

cfDNA

screening results

, no

further evaluationa normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B)

Slide36

CHOROID

PLEXUS

CYSTSmay be visualized

during

the

late first trimesterusually disappear by the third trimesterthose that persist are usually asymptomatic

and

benignis

a

small

(usually

less

than

1

cm

),

sonolucent

structure

in

choroid

plexus

unilateral

single

cysts

to

bilateral

septated

and

multiple cysts

Slide37

in

30 to 50 %

of

fetuses

with trisomy 18 compared with 0.6 to 3 % of all second trimester fetuses.if the fetus is able

to

unclench its hand and

hold

it

open,

trisomy

18

is

not

likely.

Slide38

In

trisomy 18, multiple structural anomalies are almost always

evidentWhen a structural anomaly is present in addition to CPCs, the positive LR is 66.62 In

the absence of other

ultrasonographic

abnormalities,

LR is < 2 suggesting

a minimal risk.

Slide39

CPC does not alter the risk of trisomy

21no previous aneuploidy screening : noninvasive aneuploidy screening with cfDNA or quad screen not recommend diagnostic testing solely for this

indication

negative

serum or

cfDNA

screening :

no further aneuploidy evaluationno indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C).

Slide40

CPCs (size, complexity, laterality, and persistence) not modify

risk

all CPCs resolve by 28 weeksnot differences in neurocognitive ability, motor function, or behavior

Slide41

SINGLE UMBILICAL

ARTERY not

recommend

routine

chromosomal

analysis

if

there are no other malformations or other indications for genetic amniocentesis

Slide42

In 0.25

% to 1% of all singleton pregnancies and up to 4.6% of twin

gestationsCo-occurring abnormalities in cardiovascular and renal systemsWith one or multiple structural abnormalities,

aneuploidy

ranges from 4% to

50%

if cardiac views adequately

visualized and normal, fetal echocardiography is not

indicated an isolated SUA, no increased risk of aneuploidy

Slide43

isolated SUA, recommend no additional evaluation for aneuploidy, regardless of whether previous aneuploidy screening results were low risk or screening was declined (GRADE 1C

)

Slide44

Given the conflicting evidence and increased risks of

stillbirth we recommend a third-trimester ultrasound examination to evaluate growth consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation for fetuses with an isolated SUA (GRADE 1C)

At

the time of delivery, the pediatric provider should be notified of the prenatal

findings

Postnatal

examination of infants with a prenatal diagnosis of isolated SUA revealed structural anomalies in up to 7% of fetuses in 1 study

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FETAL GROWTH RESTRICTION

 

 most common etiologies are uteroplacental insufficiency and constitutional factors aneuploidy has been detected in 20 percent of pregnancies wits SGA

almost

all small fetuses with

karyotypic

abnormalities also have structural

defects

only 2 percent of fetuses with isolated growth restriction have abnormal chromosomes FGR with aneuploidy can occur as early as the first trimester First trimester growth restriction is also very common among fetuses with triploidy

Slide47

As

most soft markers

resolve

by

the

third trimester, we do not recommend postnatal genetic evaluation unless there are signs of aneuploidy on clinical examination.

Slide48

multiple

soft markers increases the risk for certain

aneuploidies

Slide49

two

or more soft markers

without aneuploidy screening, suggest invasive diagnostic testing evaluation with interphase fluorescence in situ hybridization (FISH) for the common aneuploidies

chromosomal

microarray analysis (CMA) or conventional karyotype if FISH is

normal

Other

clinicians may omit FISH and go directly to CMA or conventional karyotype

.In contrast to fetal structural anomalies, data are limited on the value of CMA versus conventional karyotyping

Slide50

*For

patients

who decline invasive

diagnostic

testing

but

are interested in further evaluation, offer cell-free DNA screeningIf cell-free DNA screening was normal , then

patients

are offered

reassurance , continue routine

prenatal

care

we

always

stress

that

a

negative

screening

result

does

not

eliminate

the

possibility

of

a

genetic condition in the fetus.

Slide51

Thanks for your attention