Prenatal diagnosis of trisomy 18: report of 30 cases.

Yang, Jae Hyug; Chung, Jin Hoon; Shin, Joong Sik; Choi, June Seek; Ryu, Hyun Mi; Kim, Moon Young

Objectives To review the detection rate of the prenatal screening tests used for the diagnosis of the trisomy 18. Methods From 1 October 1998 to 31 December 2001, we reviewed the database and medical records of 30 cases of trisomy 18. All were singletons and trisomy 18 was confirmed by amniocentesis in 19 cases, by cordocentesis in 6 cases, by chorionic villi sampling in 2 cases and by skin biopsy in 3 cases. Results Of the 30 study cases, 23 cases (77%) were offered genetic study due to abnormal ultrasound (US) findings. Twelve (40%) out of the 23 cases were due to abnormal US findings detected before the triple test and 11 (37%) were due to abnormal US findings after the normal triple test. Six cases (20%) were offered genetic study because of an abnormal triple test, and one case was offered genetic study due to advanced maternal age only. Including the second targeted ultrasonogram, one or more abnormal US findings were found in all 30 fetuses. Conclusions Abnormal US finding is the most sensitive screening test for trisomy 18. The most sensitive ultrasonographic finding for trisomy 18 at under 16 weeks of gestation is increased nuchal translucency (75%) and, after 16 weeks, is cardiac defect (83%). Copyright © 2005 John Wiley & Sons, Ltd.

Prenatal Diagnosis, 2005, Vol 25, Issue 2, p119

0197-3851

Academic Journal

10.1002/pd.1073