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ultrasound diagnosis of fatal anomalies

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SOFT MARKERS OF CHROMOSOMAL ABERRATIONS

Fig. 10.14 Single umbilical artery. A single umbilical

artery is seen running on one side of the fetal urinary

bladder; there is aplasia of the contralateral

artery.

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References

Aoki S, Hata T, Ariyuki Y, Makihara K, Hata K, Kitao M.

Antenatal diagnosis of aberrant umbilical vessels.

Gynecol Obstet Invest 1997; 43: 232–5.

Barr M Jr. Organ asymmetries as correlates of other

anomalies. Am J Med Genet 2001; 101: 328–33.

Budorick NE, Kelly TF, Dunn JA, Scioscia AL. The single

umbilical artery in a high-risk patient population:

what should be offered? J Ultrasound Med 2001; 20:

619–27.

Catanzarite VA, Hendricks SK, Maida C, Westbrook C,

Cousins L, Schrimmer D. Prenatal diagnosis of the

two-vessel cord: implications for patient counselling

and obstetric management. Ultrasound Obstet Gynecol

1995; 5: 98–105.

Goldkrand JW, Pettigrew C, Lentz SU, Clements SP, Bryant

JL, Hodges J. Volumetric umbilical artery blood

flow: comparison of the normal versus the single

umbilical artery cord. J Matern Fetal Med 2001; 10:

116–21.

Jassani MN, Brennan JN, Merkatz IR. Prenatal diagnosis

of single umbilical artery by ultrasound. JCU J Clin Ultrasound

1980; 8: 447–8.

White Spot (Echogenic Focus within the Heart)

Definition and clinical significance: Echogenic

focus in the right ventricle, left ventricle, or both,

appearing as an isolated focus or as a group of

foci. These white spots have no functional significance

and usually disappear in the third

trimester. According to reports, these spots are

considered to be a marker for chromosomal aberration,

raising the risk slightly for Down syndrome

and other genetic disorders.

Incidence: 2.0–7.4% of fetuses in the second

trimester.

Nyberg DA, Shepard T, Mack LA, Hirsch J, Luthy D, Fitzsimmons

J. Significance of a single umbilical artery in

fetuses with central nervous system malformations.

J Ultrasound Med 1988; 7: 265–73.

Persutte WH, Hobbins J. Single umbilical artery: a clinical

enigma in modern prenatal diagnosis. Ultrasound

Obstet Gynecol 1995; 6: 216–29.

Pierce BT, Dance VD, Wagner RK, Apodaca CC, Nielsen

PE, Calhoun BC. Perinatal outcome following fetal

single umbilical artery diagnosis. J Matern Fetal Med

2001; 10: 59–63.

Raio L, Saile G, Bruhwiler H. Discordant umbilical cord

arteries: prenatal diagnosis and significance. Ultraschall

Med 1997; 18: 229–32.

Sepulveda WH. Antenatal sonographic detection of

single umbilical artery. J Perinat Med 1991; 19: 391–

5.

Wu MH, Chang FM, Shen MR, et al. Prenatal sonographic

diagnosis of single umbilical artery. J Clin Ultrasound

1997; 25: 425–30.

Embryology: These white spots represent microcalcifications

in the papillary muscles and in

the chordae tendineae at the mitral and tricuspid

valves. In the course of the pregnancy,

they usually disappear spontaneously.

Ultrasound findings: Echogenic areas are seen in

the right or the left cardiac ventricles. They may

be isolated or grouped findings. Detection depends

on the level of contrast and the general

sensitivity of the ultrasound apparatus. The

echogenicity is as high as that of bone, and the

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