Prenatal diagnosis of 5p deletion syndrome: Report of five cases
| Autor: | Annisa S. L. Mak, Teresa W. L. Ma, Kwok Y. Leung, Kelvin Y.K. Chan, Mary Hoi Yin Tang, Anita Sik Yau Kan |
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| Rok vydání: | 2019 |
| Předmět: |
5p Deletion Syndrome
medicine.medical_specialty 030219 obstetrics & reproductive medicine business.industry Obstetrics Ultrasound Cri du Chat Syndrome Obstetrics and Gynecology Small cerebellum Chromosomal translocation Prenatal diagnosis medicine.disease Nasal bone 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis medicine Trisomy business |
| Zdroj: | Journal of Obstetrics and Gynaecology Research. 45:923-926 |
| ISSN: | 1447-0756 1341-8076 |
| DOI: | 10.1111/jog.13911 |
| Popis: | It is difficult to prenatally identify 5p deletion (-) syndrome. Here, we report five cases of 5p- syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cases had noninvasive prenatal testing and one showed a '5p- syndrome positive result' because of reduced amount of cell-free DNA in 5p. Two had combined first-trimester screening performed where one had a high-risk result for trisomy 18 and a low pregnancy-associated plasma protein-A level. Two cases of 5p- syndrome resulted from a parental balanced translocation. Prenatal diagnosis will only be made on invasive prenatal diagnosis for abnormal ultrasound findings with small cerebellum, abnormal prenatal screening or a parental reciprocal translocation involving 5p. |
| Databáze: | OpenAIRE |
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