ArticlePrenatal diagnosis2018
ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Article in Prenatal diagnosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 80 citations in OpenAlex.
- Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.Journal of translational medicine · 2026Article
- Development and temporal validation of a multimodal post-test risk stratification model for pregnancies with abnormal prenatal findings.Scientific reports · 2026Article
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping.Molecular cytogenetics · 2025Article
- Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.PloS one · 2025Article
- A Four-Year Retrospective Study of Amniocentesis in a Tertiary Care Center in South India-Lessons Learnt.Journal of pregnancy · 2025Article
- Detection of trisomy 9 mosaicism in the second trimester screening by abnormal level of biochemical markers.Obstetrics & gynecology science · 2024Article
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications.Scientific reports · 2024Article
- Determinant of Prenatal Diagnostic Testing among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders.American journal of perinatology · 2024Article
- Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.Scientific reports · 2024Article
- Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.Archives of gynecology and obstetrics · 2023Article
- Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.BMC medical genomics · 2023Article
- Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.European journal of medical research · 2023Article
- Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.Frontiers in genetics · 2023Article
- Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans.Journal of obstetrics and gynaecology of India · 2022Article
- Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.Prenatal diagnosis · 2022Article
- Article
- Prenatal diagnosis of fetal growth restriction with polyhydramnios, etiology and impact on postnatal outcome.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping.
methodsA total of 3223 prenatal samples undergoing CMA were evaluated. Cases were categorized into 2 groups: those that met ACOG guidelines for CMA versus those that met ACOG guidelines for either CMA or karyotype.
resultsOf the 3223 cases, 1475 (45.8%) met ACOG recommendations for CMA, and 1748 (54.2%) met recommendations for either CMA or karyotype. In patients who could have elected either CMA or karyotype, 2.5% had CSCA that would have been missed if the patient had elected to pursue karyotype.
conclusionThis study suggests that 2.5% of patients will have a CSCA that may be missed if the guidelines continue to suggest that CMA and karyotyping have equivalent diagnostic value for patients without a fetal structural abnormality.
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