Turner's Syndrome
45XO. Isochromosome Xq , Xp deletions, ring X chromosome. Mosaicism with a concomitant normal cell line in 15%. 2nd Trimester spontaneous abortion in the vast majority. Over 95% of nonmosaic 45,X fetuses is spontaneously aborted. Of liveborn neonates with Turners syndrome, 40% are mosaic or have variant chromosomal patterns. 7% of fetuses are spontaneously aborted, suggesting that survivors with less severe features of Turner’s syndrome have less severe chromosomal abnormalities including mosaicism and structural X chromosome abnormalities (3,4) Short stature, low hairline, web neck, cubitis valgas, shield chest, widely spaced nipples, hearing loss, renal and cardiac malformations. Infertile with no menses or secondary sexual characteristics due to ovarian dysgenesis. IQ decreased but mental retardation is rare. 1:5,000-10,000 births Karyotype View
Cystic Hygroma		Renal Anomalies Horseshoe kidney
Non-immune hydrops		Fetal Heart Rate
Nuchal edema or pterygium colli.		IUGR rare.
Pleural fluid collections		Crown-rump length normal
Congenital Heart Defects (40%) ASD, PDA, Transposition of the great vessels Coarctation of the Aorta (70%) Congenital aortic valvular stenosis Hyoplasia of the arch (third part)		Thick umbilical cord

REFERENCES

1. Suchet IB, van der Westhuizen NG, Labatte MF. Fetal cystic hygromas: further insights into their natural history. Can Assoc Radiol J 1992; 43:420-424
2. Bronshtein M, Rottem S, Yoffe N et.al. First-trimester and early second trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the non-septated lesions. Am J Obstet Gynecol 1989; 161:78-82
3. Chervenak FA, Isaacson G, Blackmore KJ et.al. Fetal cystic hygroma. Cause and natural history. N Engl J Med 1983;309:822-825
4. Machin G. Hydrops, cystic hygroma, hydrothorax and pericardial effusions and fetal ascites. In: Gilbert-Barness E (ed): Potters pathology of the fetus and infant. Mosby, St Louis 1997:pg 163-181.