ABSTRACT
OBJECTIVE: The objective of the study was to evaluate the performance of first trimester combined screening in cases of placental/fetal, mosaic or non-mosaic, autosomal trisomy other than trisomy 21, 18, or 13, and in cases of aneuploidy for a marker chromosome with focus on biochemical markers. METHOD: We identified 66 cases in three large databases including 357 675 pregnancies from October 2003 to January 2014. RESULTS: Seventy-seven percent of the 66 cases were screened positive at the combined first trimester screening (cFTS) for trisomy 21 or trisomy 18 or 13. The multiple of median (MoM) of Pregnancy Associated plasma protein A (PAPP-A) of the different aneuploidy groups ranged from 0.2 to 0.5 MoM, whereas the MoM of maternal serum free - ß - human chorionic gonadotropin (FßhCG) was approximately 1.0 MoM. The exceptions being 0.2 MoM for cases involving chromosome 8 (n = 7) and 0.5 MoM for cases involving chromosome 9 (n = 3). The nuchal translucency MoM was approximately 1.0 MoM in all aneuploidy groups. CONCLUSION: The cFTS program for trisomy 21, 18, and 13 is also sensitive to a broad range of rare chromosomal trisomies and chromosomal mosaicisms, primarily because of a strong detection capacity of PAPP-A MoM.
Subject(s)
Chorionic Gonadotropin, beta Subunit, Human/blood , Mosaicism , Pregnancy-Associated Plasma Protein-A/metabolism , Trisomy/diagnosis , Adult , Biomarkers/metabolism , Chromosome Disorders/diagnosis , Chromosome Disorders/diagnostic imaging , Chromosome Disorders/metabolism , Chromosomes, Human, Pair 13/diagnostic imaging , Chromosomes, Human, Pair 13/metabolism , Chromosomes, Human, Pair 18/diagnostic imaging , Chromosomes, Human, Pair 18/metabolism , Chromosomes, Human, Pair 8/diagnostic imaging , Chromosomes, Human, Pair 8/metabolism , Chromosomes, Human, Pair 9/diagnostic imaging , Chromosomes, Human, Pair 9/metabolism , Databases, Factual , Down Syndrome/diagnosis , Down Syndrome/diagnostic imaging , Down Syndrome/metabolism , Female , Humans , Middle Aged , Nuchal Translucency Measurement , Pregnancy , Pregnancy Trimester, First , Prenatal Diagnosis , Trisomy 13 Syndrome , Trisomy 18 Syndrome , Young AdultSubject(s)
Mosaicism , Adult , Chromosomes, Human, Pair 8/diagnostic imaging , Female , Humans , Infant, Newborn , Male , Pregnancy , Trisomy , Ultrasonography, PrenatalABSTRACT
8p23.1 duplication syndrome is a genomic condition with variable phenotype. Isolated 8p23.1 duplication is rare. Here, we report on additional isolated 8p23.1 duplication in a fetus with complete atrioventricular septal defect and right hand preaxial hexadactyly diagnosed by array comparative genomic hybridization (array-CGH). Array-CGH indicated an â¼1.43 Mb duplication between 8p23.1 olfactory receptor/defensin repeats (ORDRs) in this case, which contains 27 genes of which 21 are known and 6 are novel, including GATA4 and SOX7 and one micro-RNA gene. In order to better understanding the genotype-phenotype association of 8p23.1 duplications, we summarized the present case and 10 previously reported patients with isolated 8p23.1 duplications between ORDRs and found that minor anomalies (6/11), congenital heart defect (6/11), developmental delay (5/11), and neurodevelopmental problems (5/11) are recurrent manifestations in 8p23.1 duplication patients. Thus, we suggest that 8p23.1 duplications between ORDRs generally result in clinical phenotypes and the phenotypes vary between patients. Because true duplications and euchromatic variants (EVs) of 8p23.1 are cytogenetically indistinguishable and usually lead to different clinical results, it is necessary to differentiate 8p23.1 duplications from EVs using molecular cytogenetic techniques.
