Dra. Cecilia Valladares N.

B1 Ginecología – Obstetricia
HCAM – USFQ

AMNIOCENTESIS
AMNIOCENTESIS
 El análisis del tejido fetal necesita de
procedimientos invasivos tales como la
amniocentesis o toma de vellosidades corionicas.
 Consejo genético
 Consentimiento informado
 Adecuada información, oral, escrita que incluya
procedimiento, complicaciones, posibles
resultados, seguridad .
AMNIOCENTESIS
 Definición :
 Es una técnica invasiva, para el diagnostico prenatal,
que consiste en la extracción de liquido amniótico,
 mediante punción transabdominal
 Fue realizada por primera vez en la década de 1950.
 Una década mas tarde fue posible realizar cariotipo de
la muestra tomada.
 Amniocentesis es probablemente la técnica de
diagnostico prenatal mas usada.
AMNIOCENTESIS
Indicaciones
 Tiene más de 35 años, cuando aumenta considerablemente el riesgo de
anormalidades cromosómicas y de tener un hijo con síndrome de Down.

 Es portadora de trastornos genéticos, como hemofilia, fibrosis quística o

ciertas formas de distrofia muscular.

 Si desea plantearse, junto su pareja, la posibilidad de interrumpir el embarazo.

 En ciertas ocasiones también permite empezar un tratamiento precoz contra

ciertas alteraciones mientras el feto está dentro del útero.

 Si se tienen antecedentes familiares con algún tipo de alteración cromosómica.

AMNIOCENTESIS
Técnica

 Procedimiento aplicable desde la semana 14 – 15

en adelante.
 Ecografía obligatoria para determinar edad
gestacional, posición de la placenta, localización
del liquido amniótico, numero de fetos.
 Inyección de anestésico local en sitio de punción
es opcional. RCT demuestra que no reduce escala
de dolor.
AMNIOCENTESIS
Técnica

 Aguja de 21 o 22 G, es insertada
percutáneamente eco dirigida a fin de evitar
lesiones en el feto, placenta.
 Aspirar 20 ml de liquido, descartar primer ml
para evitar contaminación células maternas.
 Globulina Rh- debe ser administrada a pacientes
Rh -, Du - .
AMNIOCENTESIS
Técnica

 Liquido sanguinolento es ocasionalmente

aspirado, sin embargo suele proceder de la madre.
 Visualizar continuamente con ultrasonido reduce
la incidencia de sangrado y necesidad de
múltiples inyecciones
 Liquido café, rojo oscuro, color vino es asociado
con pobre resultado del embarazo.
AMNIOCENTESIS
Análisis

 Alfa feto proteína y acetilcolinesterasa son usados para

identificar fetos con trastornos del sistema nervioso central
(90% sensibilidad).


 Niveles elevados de bilirrubina se encuentran en la

hemolisis isoinmune. El riego del feto esta relacionado con
los niveles y edad gestacional
 .
 Análisis de enzimas y metabolitos usado para diagnostico
de desordenes del ciclo de urea.
AMNIOCENTESIS
Análisis

 Análisis de cromosomas, en metafase, resultados

se obtienen en 1-2 semanas.
 FISH, puede ser usado para detectar
anormalidades en cromosomas 21, 18, 13, X, y
Y resultados en48-72 horas
 FISH puede detectar microdelecciones
encontradas en Prader-Willi, DiGeorge, Williams,
y Angelman.
AMNIOCENTESIS
Análisis

 Análisis directo del DNA a través de PCR

amplificación de genes, seguido de Southern blot
análisis para determinar selección de genes.

 Esta técnica es importante en el screening de

mutaciones tales como, fibrosis cística, y
talasemia.
AMNIOCENTESIS
Análisis

 Métodos indirectos como el análisis con

restricción fragmento polimorfismos (RFLPs),
esta indicado en individuos afectados y miembros
de la familia.

 Análisis molecular del factor de crecimiento de

trofoblastos receptor 3 útil para dg tanatoporic
displasia.
AMNIOCENTESIS
Complicaciones ( maternas)

 Hemorragia vaginal después de la prueba;

 Pérdida de líquido amniótico después de la prueba;
 Hemorragia vaginal después de las 20 semanas;
 Rotura de membranas previa al trabajo de parto
antes de las 28 semanas;
 Ingreso en el hospital antes del parto;
 Parto antes de las 37 semanas;
 Parto antes de las 33 semanas.
AMNIOCENTESIS
Complicaciones ( fetales)

 Pies deformes (pie zambo);

 Pie equino varo (el pie se presenta en flexión plantar,
invertido y notablemente aducido);
 Hemangiomas (lesiones vasculares localizadas de la piel y
tejido subcutáneo);
 Defectos por reducción de miembros;
 Ingreso a una unidad de cuidados intensivos neonatales;
 Síntoma de dificultad respiratoria neonatal (definido por los
autores);
 Peso al nacer menor del décimo percentil;
BIOPSIA CORIAL
 Definición
 Es la extirpación de un pequeño trozo de tejido
(vellosidades coriónicas) del útero durante las
primeras etapas del embarazo, con el fin de
examinar al embrión en búsqueda de defectos
genéticos.
BIOPSIA CORIAL
 Biopsia de vellosidades corionicas para análisis de DNA
puede ser obtenida transcervical o transabdominal eco
guiado.

 La ventaja sobre la amniocentesis es la disponibilidad

temprana de resultados ya que se realiza entre 10 y 12
semanas.


 Biopsia corial es considerado un método seguro en

embarazos multiples.
BIOPSIA CORIAL
Técnica

 Realizar eco obstétrico

 TC-CVS usualmente realizada con catéter
flexible de polietileno .
 Se introduce a través del cérvix guiado por eco y
se dirige hacia el tejido trofoblastico, que rodea el
saco gestacional.
 Aspirar 10 a 25 mg de tejido mediante aspiración
negativa.
BIOPSIA CORIAL
TÉCNICA

 TA-CVS , utilizamos aguja de 18 a 20 G a través del eje

de la placenta.

 A pesar que las dos técnicas pueden realizarse en el

embarazo luego del primer trimestre este procedimiento es
conocido como biopsia corial tardía o biopsia placentaria.

 La biopsia de placenta ahora es reemplazada por la

cordocentesis que permite resultados dentro de 24 a 48h.
 Early or late amniocentesis--which method is safer?] - Ciach K - Ginekol Pol - 01-
MAY-2007; 78(5): 400-4 (MEDLINE® is the source for the citation and abstract of this record )
 Abstract:

 OBJECTIVES: Whether or not to perform early or late amniocentesis remains questionable due to higher
fetal loss and the rate of talipes equinovarus after early amniocentesis.
 MATERIAL AND METHODS: We have compared the course of pregnancy, delivery and the condition

of the newborns in patients after early and late amniocentesis in the group of women who had undergone
amniocentesis in the Department of Obstetrics of Medical University of Gdansk between the years 1996-
2003.
 RESULTS: Early amniocentesis was performed in 302 patients (55.9%), late amniocentesis in 302

patients (44.1%). Fetal loss occurred in 8 pregnancies (2.6%) after early amniocentesis and in 2 cases
(0.8%) after late amniocentesis (P = 0.10). There was no statistically significant difference between early
and late amniocentesis, comparing complications following the procedure in the first 3 weeks after
amniocentesis: lower abdominal pain, spotting, bleeding, leakage of amniotic fluid. Mean duration of
pregnancy in patients after earlyamniocentesis was 38.5 +/- 3.9 and 38.4 +/- 3.3 weeks in late
amniocentesis group. There was no statistically significant difference between these groups in the type of
delivery and premature delivery rate. Frequency of pneumonia and the respiratory infections in newborns
were comparable in two groups (6.8% vs. 4.8%). There was only one case of talipes equnovarus in a
fetus after late amniocentesis and one case of congenital dysplasia of the hip in a fetus after late
amniocentesis, too. There were not any such defects in a group after early amniocentesis.
 CONCLUSIONS: The type of amniocentesis--early or late--has not got any influence on the frequency of

complicattions after amniocentesis.

Amniocentesis in the third trimester of pregnancy. - O'Donoghue K - Prenat
Diagn - 01-NOV-2007; 27(11): 1000-4 (MEDLINE® is the source for the citation and
abstract of this record )
DOI: 10.1002/pd.1820
Abstract:

BACKGROUND: Amniocentesis in the third trimester, which reduces risks of procedure-

related miscarriage but still allows termination of affected fetuses, may be applicable in
some pregnancies. The implications of deferringamniocentesis include complications,
delivery before the test and increased amniotic fluid culture failure rates. We investigated
the indications, complications, karyotype results and laboratory failure rates of third-
trimesteramniocentesis.
METHODS: We studied all women who underwent third-trimester amniocentesis from
2000 to 2006. Data were collected from ultrasound databases, computerised records and
individual chart review.
RESULTS: We reviewed 165 pregnancies that underwent amniocenteses after 28 weeks.
Median maternal age atamniocentesis was 32 years and median gestation, 32(+2) weeks.
Indications included malformation (60/165), soft markers (37/165), maternal request
(12/165), and positive screening test (11/165). Of the 49 women(29.7%) who declined
second-trimester amniocentesis, 24.5% had twins and 38.8%, malformations.
Amniocentesis was not offered to 116 women: 57/116 (49.1%) third-trimester referrals,
25/116 (21.5%) diagnosed late and the remainder, low-risk indications. Fetal karyotype
was abnormal in 17 cases (10.3%). Seven women who initially declined amniocentesis
had abnormal results compared with one advised to have late amniocentesis. Culture
failure rate was 9.7%, however results were obtained by Quantitative fluorescent
polymerase chain reaction (QF-PCR) from 164/165 samples. Complication rate was
1.2%.
CONCLUSION: For late diagnoses and for low-risk indications, third-trimester
amniocentesis is an acceptable option, especially when utilising QF-PCR with
cytogenetic culture.
Advantages and limitations of chorionic villous sampling] - Carles D - Bull
Acad Natl Med - 01-MAR-2009; 193(3): 675-89; discussion 689-90 (MEDLINE® is
the source for the citation and abstract of this record )
Abstract:

Chorionic villous sampling (CVS) has been available for more than twenty years.
Together with amniocentesis, it helps the cytogenetician to determine the fetal
karyotype for prenatal diagnosis. The choice between these two methods depends on
the team and the indication. CVS can now provide sufficient material for both
histopathologic and cytogenetic analyses. We evaluated the accuracy of microscopic
examination of CVS for detecting primary ovular, uteroplacental vascular
(preeclampsia) and inflammatory disorders. Four hundred CVS were examined in the
pathology laboratory of Pellegrin Hospital, Bordeaux, France, from January 1995 to
February 2008. The results were analyzed according to the indication, the karyotype,
the results of placental examination, pregnancy outcome and, when available
(following spontaneous or medical termination), fetoplacental findings.
The sample was representative of patients requiring CVS for prenatal diagnosis, with
respect to maternal age, the stage of pregnancy, and the indications. When used to screen
for preeclamsia (prevalence 29.6% in the sample), the sensitivity and specificity of
placental biopsy were respectively 56.8% and 87.2% (76.9% in case of intra-uterine
growth retardation). When used to screen for chromosomal aberrations (prevalence 7.4%),
the specificity was 14.3% and the sensitivity 93.2%. The prevalence of other disorders,
and particularly chronic intervillitis, was too low for meaningful analysis. This study
shows that histopathologic analysis of chorionic villous samples is useful for detecting the
utero-placental vascular origin of intrauterine growth retardation in the absence of other
clinical, biological or ultrasound signs, and that it is complementary to cytogenetic
analysis. Being a simple and inexpensive examination, histopathologic analysis of CVS
could be performed systematically in this indication. Its value and diagnostic signs in
other settings need to be determined in larger series.
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