life-threatening selected congenital malformations · congenital malformation estimated number...
TRANSCRIPT
Life-threatening selected congenitalmalformations
Zbyněk Straňák
Institute for the Care of Mother and Child, Prague3rd Medical Faculty, Charles University, Prague
Secondary prevetion of congenital malformationsin period 2000-2005 (Czech Republic)
0
100
200
300
400
500
600
700
Secondary prevention Secondary prevention/10000
2000 2001 2002 2003 2004 2005
International Clearinghouse for Birth DefectsSurveillance and Research - Annual Report 2006
0
100
200
300
400
500
600
700
Secondary prevention Secondary prevention/10000
Sweden Czech Republic
N: 100 928 N: 97 664UPT: 455 UPT: 598
Effectivity of secondary prevention: CNS malformations
0102030405060708090
100
Anence
phaly
Spina bifid
aEnce
phaloc
eleHolop
rose
nceph
alyHyd
roce
phaly
Sweden
CzechRepublic
Sweden: 76%CR: 73%
Effectivity of secondary prevention: cardiac anomalies
0
10
20
30
40
50
60
70
TGA TOF HLH CoA
Sweden
CzechRepublic
Sweden: 18%CR: 21%
Effectivity of secondary prevention: chromosomal anomalies
010
2030
405060
7080
90100
Trisomy 13 Trisomy 18 Trisomy 21
Sweden
CzechRepublic
Sweden: 68%CR: 76%
Effectivity of secondary prevention: gastrointestinal anomalies
51
25
7882
0
10
20
30
40
50
60
70
80
90
CDH Omphalocele Gastroschisis
Sweden
CzechRepublic
Sweden: 38%CR: 80%
Estimated frequency of seriousmalformations
Congenital malformation Estimated number
Anencephaly 3
Spina bifida 3
Encephalocele 1
Holoprosencephaly 1
Hydrocephaly 4
HLH 2
Renal agenesis 1
Polycystic kidney 3
Trisomy 13 3
Trisomy 18 6
Trisomy 21 20
Lethal polysyndromes 3
Total 50
Holoprosencephaly: anterior midline brain, cranial, and facialmalformations resulting from the failure of the embryonicprosencephalon to undergo segmentation and cleavage
Encephalocele: Cerebral herniaClinical features: cerebral tissue herniation through a defect in the skull
Hydrocephalus: excessive accumulation of cerebrospinal fluid withinthe cranium which may be associated with dilation of cerebral ventricles
and intracranial hypertension
Prenatally: ventriculo-amnioticshunt
Anencephaly: lethal neural tube defect; total or partial absence of thebrain and skull. Inheritance: autosomal recessive in nonsporadic cases
Hydranencephaly: absent cerebral hemispheres, replaced by sacsfilled with cerebrospinal fluid. Irritability; hydrocephalus; abnormal
muscle tone; seizures
Spina bifida*Gene map locus 1q43, 5p15.3-p15.2
Pulmonary hypoplasia: presence of a bronchus and rudimentary lung, with a decrease in the number and size of alveoli, airways, and vessels;
respiratory distress; recurrent respiratory infections
Pulmonary hypoplasia:
•Primary
•Secondary
Congenital diaphragmatic hernia
• Persistent pulmonaryhypertension of thenewborn (PPHN)
• Pulmonary hypoplasia
• Associated major congenital anomalies
Fetal therapy - surgery
Minimal invasive surgery
Plug the Lung Until itGrows
Fetal EndoscopicTechniques
PLUG
FETENDO
Minimal invasive surgery
FETENDO
EXIT
Renal agenesis: oligohydramnios sequence (Potter syndrome)]
Polycystic kidney disease*Gene map locus 6p21.1-p12
Trisomy 13
Trisomy 18
Polysyndromes