Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, skull abnormalities, and abnormal dentition. The prenatal diagnosis of this condition has been reported once previously in a known high-risk pregnancy. In this report we describe the p
Prenatal sonographic diagnosis of ectopia cordis
โ Scribed by Tongsong, Theera; Wanapirak, Chanane; Sirivatanapa, Pannee; Wongtrangan, Supreeya
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 263 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0091-2751
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โฆ Synopsis
Purpose. We present a small series of prenatally diagnosed cases of ectopia cordis.
Methods. Four fetuses with prenatally diagnosed ectopia cordis were sonographically evaluated and followed up.
Results. The fetuses were diagnosed with ectopia cordis at 9, 13, 21, and 29 weeks' menstrual age. The case diagnosed at 9 weeks is the earliest prenatal diagnosis reported, to our knowledge. The diagnoses were based on the demonstration of a fetal heart outside the thoracic cavity with Doppler waveforms typical of intracardiac flow. One fetus had isolated ectopia cordis, and 3 had other associated anolmalies. The diagnosis was postnatally confirmed in all cases. Therapeutic abortion was done in 2 cases. One infant survived, and the fourth died shortly after birth. Chromosome study was successfully performed in 2 cases and was normal in both of them.
Conclusions. This small series suggests that ectopia cordis can be readily diagnosed in utero as early as the first trimester. Later in pregnancy, sonography provides important information for planning surgical correction.
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