Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis
| Autor: | Shaobin Lin, Zhiming He, Yanmin Luo, Jialiu Liu, Ye Wang, Linhuan Huang, Xuan Huang |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
medicine.medical_specialty China Genetic counseling Prenatal diagnosis Genetic Counseling Polymorphism Single Nucleotide Loss of heterozygosity 03 medical and health sciences Young Adult 0302 clinical medicine Pregnancy Prenatal Diagnosis Medicine Humans Radiology Nuclear Medicine and imaging Clinical significance 030212 general & internal medicine Genetic Testing Gynecology Multiple abnormalities Fetus 030219 obstetrics & reproductive medicine Radiological and Ultrasound Technology business.industry Pregnancy Outcome Obstetrics and Gynecology General Medicine Uniparental Disomy medicine.disease Uniparental disomy Reproductive Medicine Female business SNP array |
| Zdroj: | Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyREFERENCES. 57(2) |
| ISSN: | 1469-0705 |
| Popis: | OBJECTIVES To investigate the general occurrence and clinical significance of absence of heterozygosity (AOH), detected by single-nucleotide polymorphism (SNP) array on prenatal diagnosis. METHODS We recruited pregnancies undergoing invasive prenatal diagnosis at our fetal medicine center over a 6-year period. All fetuses underwent SNP array using the Affymetrix CytoScan HD array platform. AOH was defined as a chromosomal homozygosity segment with neutral copy number. Cases with AOH over 10 Mb in size or with suspected pathogenicity were further analyzed, and the clinical features and outcome were reviewed. RESULTS Of 10 294 recruited fetuses, 100 (0.97%) with AOH were identified; in 81 (81.0%) of these, AOH occurred in a single chromosome, while 19 (19.0%) patients had multiple AOHs in different chromosomes. AOH was observed in all chromosomes, chromosomes X, 2 and 16 being the most frequently involved. The length of AOH ranged from partial chromosome (9.002-80.222 Mb) to the entire chromosome. Similar AOH regions displayed varied clinical manifestations. In total, 55 patients presented with concomitant ultrasound abnormalities, the most common being multiple abnormalities (14/55 (25.5%)), genitourinary malformations (8/55 (14.5%)), skeletal malformations (5/55 (9.1%)) and small-for-gestational age (5/55 (9.1%)). Notably, the rate of adverse perinatal outcome (including termination of pregnancy, neonatal death, fetal death, selective reduction and miscarriage) in fetuses with AOH and ultrasound abnormalities (30/48 (62.5%)) was higher than in those without ultrasound abnormalities (6/40 (15.0%)) (P |
| Databáze: | OpenAIRE |
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