Ectopia cordis in a fetus with trisomy 18.
Trisomy 18 is the second-most common autosomal trisomy and represents one third of the chromosomal trisomies identified prenatally. We present a case of a fetus with trisomy 18 in which thoracoabdominal ectopia cordis was detected prenatally; it was noted as a dominant defect on a sonographic examination performed at 19 weeks' gestation. Furthermore, our case exhibits a rare type of multiple-marker screening result with increased maternal serum alpha-fetoprotein. This case demonstrates the need for thorough sonographic evaluation of the fetal thoracoabdominal wall as early as possible, because fetal ectopia cordis can be the major abnormality of trisomy 18.
Shaw
Sheng-Wen
SW
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, 5, Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan.
Cheng
Po-Jen
PJ
Chueh
Ho-Yen
HY
Chang
Shuenn-Dyh
SD
Soong
Yung-Kuei
YK
D002887:Chromosomes, Human, Pair 18; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal