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Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies
1Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.
Insights
Trisomy 7 is a common finding in non-invasive prenatal testing (NIPT). This review clarifies genetic counseling for NIPT trisomy 7-positive pregnancies, addressing parental concerns about outcomes and diagnostic procedures.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Reproductive Medicine
Background:
- Trisomy 7 is the most frequent rare autosomal trisomy (RAT) identified via genome-wide non-invasive prenatal testing (NIPT).
- Genetic counseling for NIPT trisomy 7-positive results is challenging due to parental anxiety regarding adverse pregnancy outcomes, fetal abnormalities, and the need for invasive testing.
- Understanding mosaic trisomy 7 and uniparental disomy (UPD) 7 is crucial for accurate genetic counseling.
Purpose of the Study:
- To provide updated information on genetic counseling for NIPT trisomy 7-positive pregnancies.
- To address parental concerns about potential adverse outcomes and fetal abnormalities.
- To clarify the necessity and implications of invasive procedures for confirming fetal mosaic trisomy 7 and UPD 7.
Main Methods:
- Comprehensive literature review on trisomy 7 and NIPT.
- Analysis of current guidelines and recommendations for genetic counseling.
- Synthesis of information regarding fetal mosaicism and uniparental disomy.
Main Results:
- NIPT identifies trisomy 7 as a common RAT.
- Parental anxiety is a significant factor in genetic counseling for trisomy 7.
- Invasive procedures remain essential for confirming mosaic trisomy 7 and UPD 7.
Conclusions:
- Accurate and empathetic genetic counseling is vital for NIPT trisomy 7-positive pregnancies.
- Addressing parental concerns about fetal abnormalities and UPD 7 is paramount.
- This review offers a resource for healthcare providers to improve genetic counseling for trisomy 7.
Abstract:
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may worry about the likelihood of adverse pregnancy outcomes, fetal abnormality and the necessity of invasive procedures for confirmation of fetal mosaic trisomy 7 and uniparental disomy (UPD) 7. This review provides a comprehensive information on the update issues concerning genetic counseling of NIPT trisomy 7-positive pregnancies.
