PHENYLKETONURIA IN MOLDOVA – NEONATAL SCREENING ...

PHENYLKETONURIA IN MOLDOVA –
NEONATAL SCREENING ABOUT 20 YEARS
Usurelu Natalia,
Burgoci Vasile, Boiciuc Kiril,
Halabudenco Elena, Stratila Mihail
e-mail: natalia.usurelu@yahoo.com
The National Centre of Reproductive Health and Medical Genetics,
Chisinau, Moldova, www.reprogenetics.md
ISNS, 2012, Hungary

Republic of Moldova
Moldova,
is a landlocked country in
Eastern Europe, located
between Romania to the west
and Ukraine to the north, east
and south.
The country is a parliamentary
democracy with a president as
its head of state and a prime
minister as its haed of
government
- nowadays-politic and economic
crisis
ISNS, 2012, Hungary

Moldova enjoys a favorable
climate and good farmland but has
no major mineral deposits. As a
result, the economy depends
heavily on agriculture, featuring
fruits, vegetables, Moldovan wine,
and tobacco. The country is
considered to have the cleanest air.
ISNS, 2012, Hungary

The National Centre of Reproductive 82 Burebista str.,
Health and Medical Genetics Chiinu, MD 2062
www.reprogenetics.md
Departaments:
• Consultative
• Scientific
Services:
• Medico-genetic consultation
• Prenatal diagnostic
• Cyto-genetic investigations
• Molecular-genetic analysis
• PKU neonatal screening
ISNS, 2012, Hungary

Neonatal PKU Screening in Moldova
• NBS exists from 1989 (PKU, CH stopped after 4 yrs)
• NBS for PKU functioned continuos till 2003
• was restarted at the end of 2006 and is operating till now
ISNS, 2012, Hungary

Fluorimetric method - McCaman&Robins modifications
with Anilabsystems reagents (Finland).
20
18
16
14
12
10
8
The cut-off value is 3 mg/dL.
20
6
4
2
1
2
3
0
normal heterozygous cut-off PKU
ISNS, 2012, Hungary

The dynamic of screening rate
99,2%
ISNS, 2012, Hungary

period
PKU in MOLDOVA 1993-2011 (available data from 1993)
newborns
screened
newborns
Screening
rate,
Frequency
Confirmed
PKU
%
1993 66 058 52 384 79,3 1:7483 7
1994 63 638 51 113 80,3 1:8518 6
1995 56 716 40 369 71,2 1:5046 8
1996 53 326 36 361 68,2 1:6060 6
1997 49 364 30 680 62,2 1:6136 5
1998 44 410 32 042 72,2 1:6408 5
1999 42 854 26 491 61,8 1:8830 3
2000 36 942 24 784 67,1 1:12392 2
2001 36 452 26 034 71,4 1:4339 6
2002 35 705 34 001 95,2 1:5666 6
2003 36 472 32 952 90,3 1:8238 4
2007 37973 21308 56,1 1:7102 3
2008 39020 16080 30,8 1:8040 2
2009 41861 31867 76,1 1:7966 4
2010 39573 38425 97.1 1:19213 2
2011 39874 39555 99.2 1:9969 4
TOTAL 720 238 534 765 74.2 1:7326 73

PROBLEM
1
The 1rst priority - to obtain 100% coverage!
Organization:
• The samples collection in maternities ( monitoring of
testing and regular supply of screening cards)
• The regular sending of samples to Screening Lab
• The sufficient ensuring of Lab Reagents, screen cards
• The good functioning of apparatus and Screen Lab
• Press coverage about neonatal screening (people,
doctors through the booklets, posters, TV, etc.)
ISNS, 2012, Hungary

PROBLEM
high number of samples-rebut
2
Year
Nr.newborns
Screened
Coverage,
%
Suspected,
%
Rebut,
%
Retested,
%
PKU
2007
37973
18294
48.2%
1.18%
56.7%
3
2008
39020
12010
30.8%
0.77%
42.4 %
2
2009
41861
31867
76.1 %
1.98 %
2.75%
68.8 %
4
2010
39573
38425
97.1 %
1.25 %
1.43 %
73.3 %
2
2011
39874
39555
99.2 %
0.82 %
0.93 %
33.7 %
4
2012
32467
27147
83.6 %
0.78 %
0.65 %
68.0%
2
9 mo
ISNS, 2012, Hungary
The samples are not accurately!
The samples don’t contain the blood!
The ring is not full filed!

Reminder letters to
maternities
what samples are correct
and what samples are
wrong to be performed
in Screening Lab
ISNS, 2012, Hungary

PROBLEM
3
• The sample does not
contain the address
• Phe was elevated!
• It should be retested!
ISNS, 2012, Hungary

Accompanying list of additional information
ISNS, 2012, Hungary

PROBLEM
4
Poor informed people about neonatal screening!
Year
Nr.newborns
Screened
Coverage,
%
Suspected
,%
Rebut,
%
Retested,
%
PKU
2007
37973
18294
48.2%
1.18%
56.7%
3
2008
39020
12010
30.8%
0.77%
42.4 %
2
2009
41861
31867
76.1 %
1.98 %
2.75%
68.8 %
4
2010
39573
38425
97.1 %
1.25 %
1.43 %
73.3 %
2
2011
39874
39555
99.2 %
0.82 %
0.93 %
33.7 %
4
2012
32467
27147
83.6 %
0.78 %
0.65 %
68.0%
2
9 mo
ISNS, 2012, Hungary

• Poster copii PKU
ISNS, 2012, Hungary

PROBLEM
2 nd or 3 rd day of life?
5
Year
Nr.newborns
Screened
Coverage,
%
Suspected
%
Rebut,
%
Retested,
%
PKU
2007
37973
18294
48.2%
1.18%
56.7%
3
2008
39020
12010
30.8%
0.77%
42.4 %
2
2009
41861
31867
76.1 %
1.98 %
2.75%
68.8 %
4
2010
39573
38425
97.1 %
1.25 %
1.43 %
73.3 %
2
2011
39874
39555
99.2 %
0.82 %
0.93 %
33.7 %
4
2012 IX
32467
27147
83.6 %
0.78 %
0.65 %
68.0 %
2
• Fals-negative and fals-positive results
ISNS, 2012, Hungary

Conclusions:
• Children born with Phenylketonuria can now
expect a normal life due to the newborn
screening and early treatment programs, but a
repeated screening test should be performed in
a slow developed infant.
• A good organization and management of
neonatal screening is essential for obtaining
the best results.
ISNS, 2012, Hungary

They’ll build up our future,
we must assure them the present!
ISNS, 2012, Hungary