Nuchal Translucency in First-Trimester Ultrasound Screening for ...
OBSTETRICAL ULTRASOUND CONGENITAL DISORDERS. Sonographic Markers for Chromosomal Anomalies Nuchal...
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Transcript of OBSTETRICAL ULTRASOUND CONGENITAL DISORDERS. Sonographic Markers for Chromosomal Anomalies Nuchal...
OBSTETRICAL ULTRASOUND
CONGENITAL DISORDERS
Sonographic Markers for Chromosomal Anomalies Nuchal translucency Echogenic bowel Choroid plexus cysts Intracardiac echogenic foci Fetal pyelectasis Nuchal fold Mild ventriculomegaly Shortened longed bones Single umbilical artery
Nuchal Translucency 10-14 weeks of gestation, posterior
to the neck skill for accuracy of measurement > 3mm has association with
chromosomal abnormality > 4 higher risk
Nucal Translucency Normal < 3 mm
DOWN’S SYNDROME Trisomy 21 Physical features
brachycephaly nuchal fold flattened nose- Absent Septum protruding tongue
Trisomy 21 Possible Sonogaphic findings
nuchal translucency > 3 mm nuchal fold increased thickness > 6mm cardiac defects - AV canal
Echogenic foci duodenal atresia shortened extremities clinodactyly of fifth finger
Increased Nucal Lucency Vs Cystic Hygroma
Abnormal NT Nuchal Translucency
Trisomy 21 Nucal fold Excess soft tissue in the posterior
neck area(nucal fold) is known to be a feature of newborns with down syndrome
15-20 wks gestation Nuchal fold abnormal if increased
thickness > 6mm
Absent Nasal Bones Normal Nasal Bones
DILATED VENTRICLES
Echogenic Bowel Meconium Peritionitis
Choroid Plexus Cyst Round or oval anechoic structure
found in the choroid plexus contains cerebral spinal fluid can be unilateral or bilateral range in size from 0.3 mm - 2cm usually resolve by 22-26 weeks considered incidental but can be
associated with trisomies 18 and 21
Choroid Plexus Cyst
Echogenic Foci Fetal Heart
Trisomy 18 Edward’s syndrome Trisomy E or Trisomy 16/18 MSS markers are all decreased Extra Chromosome # 18
poor prognosis Micronathia - small chin low set ears cerebral anomalies Microcephaly “strqwberry shaped skull” clenched hands
Micronathia
“Clenched Hands” Trisomy 18
Trisomy 13 Sonographic Findings IUGR Polyhydraminos Congenital heart disease Midline defects Cranial malformations Extremity anomalies Renal malformations Omphalocele
Cleft Lip
Fetal Kidneys Fetal pyelectasis-Mild
Single Umbilical Artery