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THE ROLE OF PRENATAL SCREENING IN THE DIAGNOSIS
OF FETAL CHROMOSOMAL ABNORMALITIES
I.I. Nigma ulina
Cen e o Ma e nal and Child Heal h Cen e o he De elopmen o P o essional Quali ica ions
o Medical Wo ke s
h ps://doi.o g/10.5281/zenodo.17541035
Abs ac . The analysis o he diagnos ic e icacy o he i s - imes e combined p ena al
sc eening p og am "As aia Obs e ics" was conduc ed in p egnan women wi h high and a e age
isk o de eloping ch omosomal abno mali ies. The sensi i i y o "As aia Obs e ics" was 96.06%
wi h a speci ici y o 96.1% o high- isk women; o hose wi h abo e-a e age isk, he sensi i i y
was 87.52% wi h a speci ici y o 88.4%.
Keywo ds: i s - imes e p ena al sc eening p og am "As aia", sensi i i y, speci ici y.
In oduc ion. I has been ex ensi ely documen ed ha congeni al mal o ma ions (CM)
occu in 5-5.5% o newbo ns, and hey accoun o app oxima ely 303,000 dea hs annually wi hin
he i s 4 weeks o li e...” (Wo ld Heal h O ganiza ion. Congeni al anomalies, 2016). Resea ch is
cons an ly being conduc ed wo ldwide o imp o e he e ec i eness and in o ma i eness o
sc eening me hods o diagnosing e al congeni al mal o ma ions (CM) and ch omosomal
abno mali ies (CA) [1, 2, 3]. The mos in o ma i e me hod o p ena al diagnosis o ch omosomal
abno mali ies (CA) is cu en ly e al ka yo yping ollowing in asi e in e en ion and collec ion
o e al ma e ial (ISUOG, Consensus S a emen , 2019).
The indings indica e ha his in asi e p ocedu e can lead o p egnancy complica ions,
including spon aneous abo ion, in 1.0-5.0% o cases and is cu en ly pe o med only based on
indica ions ob ained h ough combined p ena al sc eening o p egnan women (Fedo o a N.I.,
2016). Combined sc eening p og ams a e used wo ldwide, o example: As aia, a p oduc o he
Fe al Medicine Founda ion, Ins i u e o Fe al Medicine, UK. "As aia Obs e ics" (As aia so wa e
gmbH, Ge many), de eloped wi h he suppo o he Fe al Medicine Founda ion (FMF) (London,
UK). Acco ding o he "As aia Obs e ics" p og am, p egnan women wi h a isk o 1 ≤ 101 a e
conside ed low- isk, and hose wi h a p obabili y o 1 ≥ 100 a e conside ed high- isk [4, 5, 7]. This
p og am is cons an ly being imp o ed.
The main objec i e o ou s udy was o e alua e he speci ici y, sensi i i y, and
e ec i eness o he i s - imes e combined p ena al sc eening p og am “As aia Obs e ics” in
p egnan women wi h high and a e age isk o de eloping e al CA.
Ma e ial and me hods.
Clinical obse a ions we e conduc ed a he “Alie ’s Family” Ma e nal and Child
Diagnos ic Cen e in Tashken , whe e 46 p egnan women aged 26-38 yea s (a e age age –
32.8±3.89 yea s) a 11-13+6 days o ges a ion wi h a e al c own- ump leng h (CRL) o 45-84 mm,
who sough medical a en ion a e ecei ing he esul s o comp ehensi e p ena al sc eening using
he As aia Obs e ics p og am. The s udy me hods included ins umen al examina ion me hods
(ul asound wi h e al e ome y and Dopple ul asonog aphy o he enous duc and icuspid
al e o he e us), he esul s o he As aia Obs e ics p ena al sc eening p og am, and s a is ical
me hods o p ocessing he ob ained s udy esul s.
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Resea ch esul s.
I is impo an o emphasize ha ansabdominal ul asound e ome y o he e us a 11-
13+6 days o ges a ion in he s udied p egnan women allowed us o iden i y a ious de ia ions
om he no m o many indica o s (Table 1). The a e age NT alues o he e uses o he p egnan
women s a is ically signi ican ly exceeded he no m (P≤0.05) and a e aged 2.96±0.56 mm, which
indi ec ly indica ed he p esence o CA in he e uses o he s udied p egnan women. We also
assessed he incidence o NTD a 11-13+6 days o ges a ion. De ia ions exceeding no mal alues
we e de ec ed in 21 (45.65%) pa ien s. In 12 (26.09%) women, he e was no isualiza ion o he
nasal bone in he e us, in 7 (15.22%) e uses, icuspid egu gi a ion was de ec ed, which indica es
he possible p esence o congeni al hea de ec s (CHD). The pulsa ili y index (PI) o blood low
in he enous duc abo e he no m was obse ed in 9 (19.57%) e uses. I is known ha o he
ni ica ionn o p ena al sc eening p og ams, i is cus oma y o use he MoM alue – he a io o he
ob ained absolu e alue o he ma ke o he median [1,8,9], while i should be aken in o accoun
ha a shi in he median o one ma ke by 10% o he isk inc ease inc eases he high- isk g oup
by 1–2%, and a shi in he medians o se e al pa ame e s esul s in a shi co esponding o he
o al changes in he medians o he pa ame e s [6]. Fe al e ome y pa ame e s in he s udied
pa ien s a e p esen ed in Table 1.
Table 1.
Fe al e ome y pa ame e s in he s udied pa ien s (M±σ)
Indica o s
Pa ien s unde
s udy
No m
F ui weigh , g
28,6±4,9
11-52
Fe al hea a e (bpm)
149,4±24,1
136-168
Pa ie ococcygeal leng h (CTL), mm
69,3±8,7
45-84
Bipa ie al size (BPR), mm
22,3±3,2
18-28
Head ci cum e ence (HC), mm
23,2±3,6
20-26
Femu leng h (FL), mm
11,4±1,8
7-16
Thickness o he colla space (T P), mm
2,96±0,56
1,4-2,7
TVP abo e no mal (abs. and %)
21
0
45,65
Nasal bone is isualized (abs. and %)
34
≥96%
73,91
Nasal bone is isualized (abs. and %)
12
≤2%
26,09
T icuspid egu gi a ion is p esen (abs. and %)
7
≤5%
15,22
No icuspid egu gi a ion (abs. and %)
39
≥95
84,78
Inc ease in PI in he enous duc (abs. and %)
9
19,57
Pulsa ili y index in he enous duc
1,34±0,23
≤1,4
P egnancy ges a ional age acco ding o ul asound
(weeks)
11,9±1,9
P egnancy pe iod based on he i s day o he las
mens ual pe iod (weeks)
12,6±1,8
The biochemical analysis o p egnancy-associa ed p o eins in he blood se um o emale
pa ien s pa icipa ing in he combined p ena al sc eening p og ams in he i s imes e o
p egnancy e ealed ha he a e age concen a ion o PAPP-A was 0.67±0.11 mU/L (0.43±0.07
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MoM), while he β-hCG le el was 156.3±20.6 ng/ml (2.18±0.4 MoM). Taking in o accoun he
se um concen a ions o PAPP-A and β-hCG in he s udied p egnan women and he esul s o
ul asound ma ke s o he de elopmen o e al CA, he s udy g oup was di ided in o wo
subg oups acco ding o he isk le el: high (≥1:100) and abo e a e age (1:101–1:1000) based on
he esul s o he As aia p ena al sc eening. Thus, he high- isk subg oup, based on he esul s o
he comp ehensi e p ena al sc eening "As aia Obs e ics", included 25 pa ien s (54.35%) wi h an
a e age isk o 1: 89.16 ± 6.37, and he abo e-a e age isk subg oup included 21 p egnan women
(45.65%) wi h an a e age isk o 1: 658.37 ± 117.82. In he high- isk subg oups, all pa ien s
unde wen in asi e p ena al diagnosis (IPD) by amniocen esis wi h e al ka yo ype de e mina ion
(FISH).
In he high- isk subg oup o he s udy g oup, based on he esul s o he As aia Obs e ics
comp ehensi e p ena al sc eening, 21 o 25 (84%) pa ien s in he subg oup had high a es o e al
ch omosomal abno mali ies, wi h an a e age isk o 87.21±7.86. In he abo e-a e age isk
subg oup, 20 o 21 (95.24%) p egnan women had high a es o e al ch omosomal abno mali ies,
wi h an a e age isk o 649.18±113.82. Table 2 p esen s he isk le els o e al ch omosomal
abno mali ies acco ding o he As aia p og am.
Table 2.
Risk le els o e al ch omosomal abno mali ies acco ding o he As aia p og am
Risk subg oup
Quan i y by "As aia"
A e age isk
(M±σ)
Абс
%
High (≥1:100) o al
25
54,35
1: 89,16±6,37
F om hese, high in SD
21
84,0
1: 87,21±7,86
F om hese, high in SE
3
12,0
1: 97,21±1,79
F om hese, high in SP
1
4,0
1: 96
F om a e age (1:101–1:1000) o al
21
45,65
1:658,37±117,82
F om hese, abo e a e age o SD
20
95,24
1:649,18±113,82
F om hese, abo e he SE a e age
1
4,76
1:676
I can be clea ly obse ed ha ega ding Edwa ds' synd ome (ES), in he high- isk
subg oup based on p ena al sc eening esul s, his CA accoun ed o 3 pa ien s (12%) wi h an
a e age isk o 1:97.21±1.79, while in he abo e-a e age isk g oup, he e was 1 pa ien (4.76%)
wi h a isk o 1:676. In he high- isk subg oup based on p ena al sc eening esul s, he e was 1
p egnan woman (4%) wi h a isk o 1:96, while he e we e no such cases in he abo e-a e age
isk g oup.
He e is subs an ial e idence o sugges ha we de e mined he isk le els o he As aia
p ena al sc eening p og am. The sensi i i y o As aia Obs e ics o high- isk cases was 96.06%
wi h a speci ici y o 96.1%, i.e., The diagnos ic accu acy o high- isk pa ien s was 96.08%. Fo
hose wi h abo e-a e age isk, his p ena al sc eening p og am had a sensi i i y o 87.52% and a
speci ici y o 88.4%, meaning he diagnos ic accu acy o hose wi h abo e-a e age isk was
87.96%. These esul s necessi a e he de elopmen o inc easingly sophis ica ed p ena al
diagnos ic me hods o sc eening he isk o de eloping e al CAD, which will educe he isk o
complica ions o he mo he and ad e se e ec s on he e us.
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Table 3.
Sensi i i y, speci ici y, and accu acy o he As aia p og am by isk g oup
Me hodology,
g oup
AUC
AC
Se
95% Cl
Sp
95% Cl
LR+
LR-
PV+
PV-
Youden index
Р
High isk o As aia
Obs e ics
0,91
2
<0,98
96,09
88,3-
97,7
96,1
87,6
-
98,1
3,15
0,13
95,
62
95,
91
0,96
09
<0,00
1
Abo e a e age isk
As aia Obs e ics
0,84
0
<0,96
87,52
81,4-
92,3
88,4
82,6
-
91,7
5,36
0,24
92,
36
93,
28
0,87
52
<0,01
No e: whe e: “AUC – a ea unde he cu e; AC – cu o poin ; Se – sensi i i y; 95% Cl –
con idence in e al o sensi i i y; Sp – speci ici y; 95% Cl – con idence in e al o speci ici y;
LR+ – posi i e likelihood a io; LR- – nega i e likelihood a io; PV+ – posi i e p edic i e alue;
PV- – nega i e p edic i e alue; p – s a is ical signi icance o he model; NPR – eg ession model
indica o .”
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