Prenatal diagnosis of mosaic trisomy 9

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Partial trisomy 9: prenatal diagnosis and recurrence within same family

Trisomy 9 can be suspected and confirmed in the prenatal period since the 11-13.6 weeks of screening. In cases of partial trisomy 9, the diagnosis is important especially to counseling the couple due to the increased likelihood of recurrence in subsequent pregnancies.

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Prenatal diagnosis of complete trisomy 19q.

This communication presents the first case of complete trisomy 19q, prenatally detected by ultrasound investigation. Real-time high-resolution ultrasound examination was performed at 19 weeks of gestation. After termination of the pregnancy, autopsy investigation was done. GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific probe...

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Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...

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Natural history of fetal trisomy 18 after prenatal diagnosis.

OBJECTIVE To evaluate the natural fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 18, and a parental decision for continuation of the pregnancy. METHODS The obstetric and neonatal outcome data for 23 such pregnancies, diagnosed at a single referral Fetal Medicine Centre, were retrospectively obtained. RESULTS The overall intrauterine fetal ...

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Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.

INTRODUCTION Analysis of data from cases of trisomy mosaicism can provide insight for genetic counselling after prenatal diagnosis and for the elucidation of the pathogenesis of trisomy during pregnancy. METHODS Statistical analysis was carried out on data from 162 cases of pregnancies with prenatal diagnosis of trisomy 16 mosaicism. RESULTS The majority of cases resulted in live birth (66%...

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ژورنال

عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology

سال: 2011

ISSN: 1028-4559

DOI: 10.1016/j.tjog.2011.10.031