Trisomy 18: Fetal ultrasound findings at different gestational ages

Viora, E.; Zamboni, Carla; Mortara, G.; Stillavato, S.; Bastonero, S.; Errante, G.; Sciarrone, Andrea; Campogrande, M

doi:10.1002/ajmg.a.31615

Cited by 30 publications

(26 citation statements)

References 18 publications

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“…One or more sonographic anomalies are detected in over 90% of fetuses; two or more abnormalities are present in 55% of cases [38]. The prenatal sonographic pattern of trisomy 18 is characterized by growth retardation, polyhydramnios, “strawberry-shaped” cranium (brachycephaly and narrow frontal cranium), choroid plexus cyst, overlapping of hands fingers (second and fifth on third and fourth respectively), congenital heart defects, omphalocele, and single umbilical artery [30,35-39].…”

Section: Antenatal Diagnosismentioning

confidence: 99%

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

304

328

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The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%.Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

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Section: Antenatal Diagnosismentioning

confidence: 99%

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

304

328

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“…The prevalence of IUGR increased to 89% after 24 weeks. Viora et al 21 found growth restriction prevalence rates of 14% before 16 weeks and 55% after this time in fetuses with trisomy 18. This series included 71 fetuses with trisomy 18, but only 20 were at 14 to 21 weeks' gestation, and IUGR was defined as an AC below the 10th percentile.…”

Section: Discussionmentioning

confidence: 97%

Sonographic Findings of Trisomy 18 in the Second Trimester of Pregnancy

Watson

Miller

Wax

et al. 2008

Journal of Ultrasound in Medicine

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“…4 Other conditions to rule out are those characterized by upper limb mesomelic hypoplasia such as Roberts syndrome and trisomy 18. 10,11 In the first case, the upper limb hypoplasia can be so severe that it results in phocomelia, while Edwards syndrome is characterized by other sonographic findings such as micrognathia, ear and cardiac anomalies, overlapping findings, rocker-bottom feet, dysplastic kidneys, and cerebral malformations. Fetal valproate syndrome, which is characterized by transverse and not longitudinal deficiency, was easily excluded because of a negative history of treatment with valproic acid.…”

Section: Discussionmentioning

confidence: 99%

Prenatal identification of isolated bilateral radial dysplasia

Mancuso

Giacobbe

Vivo

et al. 2008

J of Clinical Ultrasound

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Radial aplasia or hypoplasia is characterized by complete or partial absence of the radius and/or radial ray structure occurring in 1:30,000 live births. It may be unilateral or bilateral of varying severity, and may be isolated or associated with other anomalies. We report an unusual case of isolated radial aplasia at 20 weeks' gestation with complete absence of the right radius and thumb associated with marked hypoplasia of the left radius. The intrauterine 2- and 3-dimensional findings, postnatal radiographic evaluation, and autopsy results are reported.

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Trisomy 18: Fetal ultrasound findings at different gestational ages

Cited by 30 publications

References 18 publications

The trisomy 18 syndrome

The trisomy 18 syndrome

Sonographic Findings of Trisomy 18 in the Second Trimester of Pregnancy

Prenatal identification of isolated bilateral radial dysplasia

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