Ectopia cordis in a triploid fetus: First‐trimester diagnosis using transvaginal color Doppler ultrasonography and chorionic villus sampling

Abstract

Ectopia cordis is an exceedingly rare malformation characterized by extrathoracic location of the heart.'Y2 This condition is classified on the basis of cardiac location into the following types: (1) cervical (3%), (2) thoracic (60%), ( 3 ) abdominal (30%), and (4) thoracoabdominal (7%).' Although most cases appear as an isolated, sporadic defect, associated chromosomal abnormalities have been noted in three of 25 (12%) cases diagnosed prenatally.3 In this report we present a case of ectopia cordis diagnosed prenatally at 11 weeks, menstrual age (MA), using transvaginal color Doppler ultrasonography , in which chorionic villus sampling (CVS) revealed triploidy. CASE REPORTA 23-year-old woman, gravida 6, para 1, with 4 previous spontaneous abortions, was referred at 11 weeks, MA, because of suspicion of fetal anomaly. Detailed high-resolution ultrasound studies (Acuson 128XPAO; Acuson, Mountain View, California) with a 5-MHz transvaginal transducer revealed a live fetus with biometry consistent with menstrual age. A predominantly solid mass measuring 1.6 cm x 1.1 cm was seen protruding from the anterior abdominal wall. An irregular pulsatile structure at the superior aspect of the defect was demonstrated by color-flow imaging to be an ectopically located heart (Figure 1). Additional findings included increased nuchal translucency (7 mm) and an enlarged, thick placenta containing several cysts in the parenchyma.In view of the associated findings, transcervical CVS was performed for karyotyping, revealing an abnormal 69,XXY karyotype. The parents were counseled about the dismal prognosis and opted for termination of pregnancy. Transabdominal ultrasonography before dilatation and evacuation confirmed the above findings (Figure 2).Histopathologic examination of products of conception revealed a first-trimester placenta with hydropic villi without trophoblastic hyperplasia and a two-vessel umbilical cord. Karyotype from fetal skin and placenta confirmed the diag-

Concurrence of prenatally diagnosed Cantrell pentalogy and short and tight umbilical cord: A possible case of hexalogy

“…While there may be severe forms of the pentalogy, less severe forms may also be observed. incomplete expressions (5,6). In our case, our patient had all the findings described by Cantrell.…”

Ectopia Cordis in a First-Trimester Sonographic Screening Program for Aneuploidy

“…Although ectopia cordis has been considered by many as a sporadic condition, several cases have been associated with aneuploidy 21,22 ; therefore, chromosomal analysis should be considered when this condition is detected prenatally. We also noted a high prevalence of anterior abdominal wall defects in our population.…”

Ectopia cordis in a fetus with mosaic trisomy 16

“…There is relatively sparse evidence associating EC with chromosomal anomalies or specific genetic mutations. Reported cases include an association with triploidy,6 trisomy 18,7 Turner syndrome,8 and 46,XX,17q+ 9. A mosaic trisomy 16 pregnancy originates from a trisomy 16 zygote as a consequence of nondisjunction in meiosis I.…”