ABSTRACT
BACKGROUND: Most studies on chromosomal microarray analysis (CMA) and amniocentesis risks have not evaluated pregnancies with low risk for genetic diseases; therefore, the efficacy and safety of CMA and amniocentesis in this population are unclear. This study aimed to examine the benefits and risks of prenatal genetic diagnostic tests in pregnancies having low risk for chromosomal diseases. METHODS AND FINDINGS: In this retrospective study, we used clinical data from a large database of 30,830 singleton pregnancies at gestational age 16-23 weeks who underwent amniocentesis for karyotyping with or without CMA. We collected socio-demographic, medical and obstetric information, along with prenatal screening, CMA and karyotyping results. Fetal loss events were also analysed. CMA was performed in 5,837 pregnancies with normal karyotype (CMA cohort). In this cohort, 4,174 women had normal prenatal screening results and the risk for identifying genetic abnormalities with >10% risk for intellectual disability by CMA was 1:102, with no significant difference between maternal age groups. The overall post-amniocentesis fetal loss rate was 1:1,401 for the entire cohort (n = 30,830) and 1:1,945 for the CMA cohort (n = 5,837). The main limitation of this study is the relatively short follow-up of 3 weeks, which may not have been sufficient for detecting all fetal loss events. CONCLUSION: The low risk for post-amniocentesis fetal loss, compared to the rate of severe genetic abnormalities detected by CMA, suggests that even pregnant women with normal prenatal screening results should consider amniocentesis with CMA.
Subject(s)
Chromosome Disorders/diagnosis , Microarray Analysis/methods , Adult , Amniocentesis/adverse effects , Chromosome Aberrations , Chromosome Disorders/genetics , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Databases, Factual , Female , Fetal Death/etiology , Gestational Age , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Risk FactorsABSTRACT
This article focuses on a conceptual framework that can be applied to the use of mobile technology in the waiting room with the goal of empowering women recently diagnosed with abnormal Pap test results. It further describes trends which indicate a need for improved and timely information dissemination. Genecology practice outpatients report a predominant feeling of worry on receipt of abnormal medical test results, along with a clearly expressed wish for additional information. This research suggests that there is room for improvement in existing processes through use of mobile technology with carefully vetted materials which indicate a doctor is interested in the patient's well-being.
