Sonographic Findings in Partial Type of Trisomy 18

Sonographic Findings in Partial Type of Trisomy 18

Sonographic markers of fetal trisomies: second trimester.

OBJECTIVE Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific--most frequently seen in normal fetuses, and are often transient. Our objective was to review the second-trime...

Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases

OBJECTIVE To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. MATERIALS AND METHODS In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses w...

Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

OBJECTIVE To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyoty...

The Molecular Genetics of Trisomy 18: Phenotype– Genotype Correlations

The trisomy 18 syndrome can result from a full, mosaic, or partial trisomy 18. The main clinical findings of full trisomy 18 consist of prenatal and postnatal growth deficiency, characteristic facial features, clenched hands with overriding fingers and nail hypoplasia, short sternum, short hallux, major malformations, especially of the heart, andprofound intellectual disability in the surviving...