[The genetic sonogram].
Mid-trimester soft sonographic markers have been linked with aneuploidies. This article describes the individual sonographic markers used in the genetic sonograms, and reviews the current relevant Literature. The significant soft markers are: nuchal thickness, echogenic bowel, shortened limbs and absence of nasal bone. The soft markers which are not significant as an isolated finding in young patients but are significant in combination with the biochemical markers, or in older age are: intracardiac echogenic focus, choroid pLexus cyst, pyelectasis and single umbilical artery. There are several other reported findings which might be linked to chromosomal abnormalities including hypoplasia of the middle phalanx of the fifth digit, sandal gap, ear size, brachycephaly, cervical cyst, iliac angle and others. These findings shouLd not be considered as soft markers since they were reported only in small series or case reports. The aneuploidy risk should be calcuLated on the basis of age, nuchal translucency, biochemical screening and anomaly scan. If the calculated risk for aneupLoidy exceeds 1:380, an invasive karyotyping procedure should be recommended. Adoption of this approach will reduce the unnecessary invasive tests, reduce abortion rate and will increase the detection rate of aneuploidy.
Ben-Ami
Moshe
M
Department of Obstetrics and Gynecology, Baruch Padeh Medical Center, Poria Hospita, and Bruce Rappaport SchooL of Medicine, Technion, Haifa, Israel. mbenamy@poria.health.gov.il
Jadaon
Jimmy Edward
JE
D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000196:embryology*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000009:adverse effects*; D014469:Umbilical Arteries / Q000002:abnormalities / Q000000981:diagnostic imaging