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Ectopia cordis in a fetus with trisomy 18
Author(s) -
Shaw ShengWen,
Cheng PoJen,
Chueh HoYen,
Chang ShuennDyh,
Soong YungKuei
Publication year - 2006
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20203
Subject(s) - trisomy , medicine , fetus , abnormality , aneuploidy , gestation , chromosomal abnormality , obstetrics , pregnancy , chromosome , karyotype , biology , genetics , psychiatry , gene
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. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 34:95–98, 2006