diagnostico prenatal
DESCRIPTION
Genética.TRANSCRIPT
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DIAGNOSTICO
PRENATAL
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CONTROL DE EMBARAZO
• SALUD MATERNA
• SALUD FETAL
DIAGNOSTICO PRENATAL
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DIAGNOSTICO PRENATAL
* DEFECTOS CONGENITOS
* BIENESTAR FETAL
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1955-1959 1960-1964 1965-1969 1970-1974 1975-1979 1980 1981 1982 1983 1984 1985 2000
De: Carrera,J.M. Diagnóstico Prenatal. Ed. Salvat. Barcelona.
POSIBILIDAD DE DIAGNOSTICO PRENATAL DE LOS DEFECTOS CONGENITOS
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PROYECTO
FAS- MSP- BID
0
5
10
15
20
25
30
35
40
1979 1981 1983 1985 1987 1989 1991 1993 1995 1997 1999 2001 2003 2005
TASA MORTALIDAD INFANTIL TASA DEF ECTOS CONGENITOS
URUGUAY - TASA DE MORTALIDAD INFANTIL
FUENTE: DEP. ESTADISTICA M.S.P.
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0 5 0 1 0 0 1 5 0 2 0 0 2 5 0 3 0 0
H e r n i a d i a f r a g má t i c a
G a s t r o q u i s i s / O n f a l o c e l e
N e f r o l ó g i c a s
D i g e s t i v a s
H i p o s p a d i a s y g e n i t a l e s a mb i g u o s
L a b i o l e p o r i n o
P i e B o t
S ín d r o me D o w n
C a r d i o p a t ía s c o n g é n i t a s
D T N
C A SO S P O R 1 0 0 . 0 0 0 N . V .
Tasa de Defectos Congénitos Frecuentes
Centro Hospitalario Pereira Rossell
1982 - 2000
Fuente: ECLAMC
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TIPO DE DEFECTO INCIDENCIA POSIBILIDAD de por mil DIAGNOSTICO
Alteraciones cromosómicas 2-5 100 %
Defectos del
tubo neural 1-3 > 95 %
Dismorfias en
general 8-12 > 90 %
Errores congénitos
del metabolismo 1-3 < 20 %
Hemoglobinopatías 0-16 > 95 %
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DIAGNOSTICO PRENATAL
Métodos NO INVASIVOS
- control clínico
- ecografía
- bioquímicos
Métodos INVASIVOS
- biopsia vellositaria
- amniocentesis
- cordocentesis
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DIAGNOSTICO PRENATAL
Clínico
•SCREENING Ecografico
Bioquímico
•CONFIRMACIÓN Métodos invasivos
Ecografía especializada
Doppler
RNM
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ALTO RIESGO DE DEFECTOS
CONGENITOS
• Edad materna avanzada
• Antecedentes obstétricos
• Enfermedad materna o paterna
• Antecedentes familiares
• Teratógenos
• RCIU
• Polihidramnios
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SCREENING ECOGRAFICO
• MARCADORES de CROMOSOMOPATIAS
• DETECCION de DEFECTOS
• CONTROL de CRECIMIENTO
• VOLUMEN de LIQUIDO AMNIOTICO
• EMBARAZO MULTIPLE
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MARCADORES ECOGRAFICOS
DE DEFECTOS CONGENITOS
TRANSLUCENCIA NUCAL
OLIGOAMNIOS
POLIHIDRAMNIOS
VEJIGA
ESTOMAGO
RIÑONES
HUESOS
COLUMNA
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MARCADORES ECOGRAFICOS DE CROMOSOMOPATIAS
• HUESO NASAL
• ALTERACIONES de MANOS y PIES
• HIPERECOGENICIDAD INTESTINAL
• CARDIOPATIAS
• PLIEGUE de NUCA
• OLIGOAMNIOS
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MARCADORES ECOGRAFICOS
DE CROMOSOMOPATIAS
• ARTERIA UMBILICAL UNICA
• HIPER o HIPOTELORISMO
• RETROGNATISMO
• CORTEDAD de HUESOS
• RCIU
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VALORES DE AFP EN SM POR CADA SEMANA DE GESTACION
-50
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100
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0 5 10 15 20 25 30 35 40 45
EDAD GESTACIONAL (SEMANAS)
MAS 2DE X MENOS2DE
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SCREENING BIOQUIMICO
• ALFA-FETO PROTEINA
• Hcg beta
• ESTRIOL
• PAPPA
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Screening bioquímico/ecográfico de
alteraciones cromosómicas
• Translucencia nucal
• HCG beta
• PAPP - A
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TECNICAS de OBTENCION de MUESTRAS
FETALES
1961 - Alvarez - Biopsia placentaria
1967 - Saling - Cuero cabelludo
1972 - Kazy - Biopsia vellositaria
1973 - Valenti - Aspiración placenta
1974 - Hobbins - Fetoscopía
1983 - Bang - Punción cardíaca
1983 - Daffos - Cordocentesis
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AGUJA DE PUNCION
CORDON UMBILICAL
POLO CEFALICO FETAL
PLACENTA
INTRODUCCION DE LA
AGUJA
BAJO VISION ECOGRAFICA
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CORDOCENTESIS
• riesgo 1%
• posibilidad de contaminación
• volemia fetal
• activación de sistema de coagulación
OBTIENE SANGRE FETAL
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METODOS INVASIVOS
METODO EDAD RIESGO TIEMPO
B.VELLOSITARIA 12 1/100 3 DIAS
AMNIOCENTESIS 15 1/300 2 SEMANAS
CORDOCENTESIS 18-40 1/100 1 DIA
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TECNICAS GENETICAS
ESPECIALES
• DIAGNOSTICO PREIMPLANTATORIO
• PINTADO CROMOSOMICO
• SONDAS DE ADN
• OBTENCION de CELULAS FETALES DE
SANGRE MATERNA
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MACS
FACS
PCR
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