A diagnostic algorithm for midtrimester soft markers based on prenatal chromosomal microarray analysis

1. This finding was unusual because in clinical practice, only a small proportion of such patients would opt for invasive testing. What the treatment protocol these kind during study period? How were consulted? In our study, all gravidas offered with pretest counseling option aneuploidy screening or diagnostic The differences between and testing have been extensively discussed, including target diseases cell-free DNA (cfDNA) screening, sensitivity specificity, false-positive false-negative rates, limitations,1Committee on Practice Bulletins—Obstetrics, Committee Genetics, Society Maternal-Fetal Medicine. Bulletin No. 163: fetal aneuploidy.Obstet Gynecol. 2016; 127: e123-e137Crossref PubMed Scopus (211) Google Scholar as well benefits, limitations, risks diagnosis.2American College Obstetricians Gynecologists’ Bulletins—ObstetricsCommittee 162: prenatal genetic disorders.Obstet e108-e122Crossref (140) Procedure-related miscarriage is main complication amniocentesis, which leads some to refuse diagnosis. However, randomized trial revealed that rate not substantially different cfDNA diagnosis.3Malan V. Bussières L. Winer N. et al.Effect vs direct diagnosis rates women pregnancies at high risk trisomy 21: trial.JAMA. 2018; 320: 557-565Crossref (34) center, procedure-related (0.2% [200/100,000], unpublished) extremely lower than previously reported (0.8%).3Malan Thus, more 70% chose 2. Did normal first-trimester (FTS) test, those without FTS (who had missed time FTS) also included this study? aim investigate outcomes fetuses isolated soft markers by single-nucleotide polymorphism (SNP) array long-term follow-up propose algorithm based specific types markers. For low screen positive (5%)1Committee FTS, we excluded nuchal translucency ?3.0 mm, results, structural abnormalities subjected analysis. results considered criterion enrollment. enrolled regardless availability FTS. 3. It noteworthy 3 18 showed retarded growth anomalous limbs heart an anatomy scan performed mean gestational age (GA) 24 weeks. Actually, most exhibited several detailed second-trimester anomaly scans. few early midtrimester stage, short femur length, choroid plexus cysts, single umbilical artery. diagnosed having chromosomal microarray analysis (CMA) before weeks’ gestation (range, 19–21 weeks). strongly reminds us pay attention initial exclude disorder testing, rather just till GA 4. era ultrasound tool coming close. overall prevalence aberrations 4.3%, comprised 40.2% numeric 59.8% (likely) pathogenic choroidal neovascularization (CNV). More half be if implemented. CMA, supported type–based markers, CNV multiple aberrant right subclavian artery, SNP length. role screeningAmerican Journal Obstetrics & GynecologyVol. 224Issue 5PreviewHistorically, first introduced test when tests (other maternal age) readily available. Recently, Hu al1 investigated over 5-year period. They 4.3% comprising aneuploidies copy number variants. raises important questions should addressed. Full-Text PDF