Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus.
نویسندگان
چکیده
The first ever antenatal diagnosis of Patau's syndrome (trisomy 13) during the 19th week of the pregnancy of a 42-year-old woman is reported. Karyotypes were obtained from amniotic fluid cell cultures established at 17 weeks and the results were confirmed by chromosome banding studies and fetal skin cultures. The pregnancy was terminated by hysterotomy and sterilization was performed at the
منابع مشابه
Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.
The three autosomal trisomy syndromes, which appear to be specific and well documented, are Down's syndrome (trisomy 21), Edwards' syndrome (trisomy 18), and Patau's syndrome (trisomy 1315). Down's syndrome was decribed in 1866 (Down, 1866), and the chromosomal nature of the disorder was demonstrated by Lejeune, Turpin, and Gautier in 1959. The rarer Edwards' and Patau's syndromes were describe...
متن کاملAntenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.
A 24-year-old woman who had previously given birth to an infant with Down's syndrome was shown by chromosomal analysis of the liquor amnii to be carrying an infant with trisomy D. Routine examination of serum and liquor alpha-feto protein (AFP) in the antenatal period showed unexpected high levels of both, consistent with a neural tube defect. The fetus, however, did not have evidence of a neur...
متن کاملTrisomy 13 and extended survival.
A 9-year-old boy with classical clinical features of trisomy 13 (Patau's syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.
متن کاملClinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population.
OBJECTIVE Evaluate noninvasive prenatal testing (NIPT) with cell-free DNA as a screening method for trisomies 21, 18, and 13 in an obstetrical clinical practice setting. METHODS Observational study of pregnant women who underwent prenatal screening for fetal trisomy from 30 July 2012 to 1 December 2012. NIPT was offered to all patients in addition to first trimester combined screening (FTS). ...
متن کامل[Anesthesia in a child operated for cleft lip associated with Patau's syndrome].
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip a...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 10 4 شماره
صفحات -
تاریخ انتشار 1973