Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?

Autor:	Bin Yu, Jing Wang, Qin Zhou, Shuting Yang, Ye Shi, Bin Zhang, Xinxin Tang, Lei-lei Wang
Rok vydání:	2021
Předmět:	medicine.medical_specialty prenatal diagnosis business.industry Obstetrics Incidence (epidemiology) Ultrasound Obstetrics and Gynecology Aneuploidy Diagnostic test International Journal of Women's Health Prenatal diagnosis high risk medicine.disease Serology Oncology Chromosomal structural abnormalities prenatal screening Maternity and Midwifery medicine chromosomal microarray analysis karyotype analysis Abnormal results business Original Research
Zdroj:	International Journal of Women's Health
ISSN:	1179-1411
Popis:	Jing Wang,1,* Xin-xin Tang,2,* Qin Zhou,1 Shuting Yang,2 Ye Shi,1 Bin Yu,1 Bin Zhang,1 Lei-lei Wang2 1Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, 213003, Jiangsu Province, People’s Republic of China; 2Lianyungang Maternal and Child Health Hospital Affiliated to Yangzhou University, Lianyungang, 222000, Jiangsu Province, People’s Republic of China*These authors contributed equally to this workCorrespondence: Bin ZhangChangzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, 213003, Jiangsu Province, People’s Republic of ChinaEmail icespringl@163.comLei-lei WangLianyungang Maternal and Child Health Hospital Affiliated to Yangzhou University, Lianyungang, 222000, Jiangsu Province, People’s Republic of ChinaEmail transmed@qq.comPurpose: We retrospectively analyzed the results of prenatal diagnosis in women with high-risk (HR) serological screening results, and discussed the reasonable application of diagnostic testing.Patients and Methods: Diagnostic testing was done in 2239 pregnant women who had HR results from serological screening in two prenatal diagnosis centers. According to the HR results, they were divided into simple HR, HR combined with ultrasound abnormalities, and HR combined with other indication groups. After receiving counselling from clinicians, they were allowed to choose either the traditional karyotype analysis and/or chromosomal microarray analysis (CMA).Results: Those who underwent CMA comprised 49.3%, 97.6%, and 100% of the HR group, HR combined with ultrasound abnormalities, and HR combined with other indication groups, respectively. Among the 100 (4.47%) clinically significant results, 55 (2.46%), 15 (0.67%), and 30 (1.34%) were chromosomal aneuploidies, chromosomal structural abnormalities, and pathogenic copy number variations (CNVs), respectively. The rate of abnormalities was 3.77%, 13.71%, and 19.05% in the simple HR, HR combined with ultrasound abnormalities, and HR combined with other indication groups, respectively. The increasing rate of clinical pathogenic CNVs was 1.34% using CMA in HR pregnant women, 9.52% in the HR combined with other indication group, and 1.24% in the simple HR group. Among the 573 women who chose both diagnostic tests, 45 had abnormal results. Only one case detected using karyotype analysis was missed on CMA. The incidence of chromosomal aneuploidy tended to increase with increase in HR values. However, chromosomal structural abnormalities and pathogenic CNVs did not increase.Conclusion: CMA should be recommended as the first-line diagnostic testing for women with HR screening results, especially combined with other abnormal indications.Keywords: prenatal screening, prenatal diagnosis, karyotype analysis, chromosomal microarray analysis, high risk
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f28e92ef6f3a2ff3bdfa8cdc3f160d https://pubmed.ncbi.nlm.nih.gov/34588820 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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