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