Prenatal diagnosis
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Junctional ectopic tachycardia (JET) is a rare cardiac arrhythmia characterized by atrio-ventricular dissociation, a high rate junctional escape rhythm and poor clinical tolerance in neonates and infants. Sudden infant death has been reported. The intra-uterine presentation of this arrhythmia is unknown. ⋯ Both parents had a normal ECG and Holter monitoring. A fetal tachycardia of moderately high rate with a 1/1 retrograde conduction and poor cardiac tolerance can be due to JET. In such cases, the use of amiodarone can be considered as a first line drug.
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The purpose of this study was to evaluate the spectrum of prenatal sonographic and chromosomal findings, associated anomalies and perinatal and neonatal outcomes in cases with Pierre-Robin sequence. All cases (20) with Pierre Robin sequence, who were born at China Medical College Hospital between 1990 and 1997, were included and analysed in this series. 12 pregnancies (60 per cent) were complicated by polyhydramnios and 9 (45 per cent) were combined with cleft palate. Four cases (20 per cent) with cardiac anomalies were also observed. ⋯ In cases of polyhydramnios, sonographic examination of the facial profile and palate are recommended. After the finding of polyhydramnios, micrognathia, and even cleft palate, clinicians should be aware of the possibility of neonatal Pierre-Robin sequence. Cardiac evaluation and karyotyping is also recommended.
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Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. ⋯ In the other case, the child was delivered at 36 weeks' gestation, an airway was secured, and subtotal resection of the tumour was performed. No developmental or neurological deficit has been detected on long-term follow-up at 5 years of age. We present a review of the literature, with attention to outcome and potential for malignancy in neonatal cervical teratomas, in order to provide help in decision-making, once prenatal diagnosis is made.
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In a limited number of conditions in utero surgery may be life-saving, such as some cases of congenital diaphragmatic hernia, cystic adenomatoid malformation of the lung, sacrococcygeal teratoma and lower urinary tract obstruction. Postoperative premature labour and its extreme invasiveness have been major drawbacks for open fetal surgery. More recently the merger of fetoscopy and advanced video-endoscopic surgery has been the basis of the concept of endoscopic fetal surgery. ⋯ Although still in its early experimental phase, endoscopy seems to offer new hope for surgical fetal therapy. Though conceptually very tempting, the development of endoscopic fetal surgery should follow the formal guidelines, as earlier formulated for open surgery by the International Fetal Medicine and Surgery Society. The prospective registration of worldwide experience is advocated and a randomized trial of laser therapy versus amniodrainage is announced.
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A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above.