PMID- 34289797 OWN - NLM STAT- MEDLINE DCOM- 20230328 LR - 20230328 IS - 1476-4954 (Electronic) IS - 1476-4954 (Linking) VI - 35 IP - 25 DP - 2022 Dec TI - Evaluation of the practical applications of fluorescence in situ hybridization in the prenatal diagnosis of positive noninvasive prenatal screenings. PG - 7422-7429 LID - 10.1080/14767058.2021.1949449 [doi] AB - OBJECTIVE: To investigate the application value and limitations of fluorescence in situ hybridization (FISH) in prenatal diagnosis of positive results for trisomies 13, 18, 21 (T13, T18, T21) and sex chromosome aneuploidies (SCAs) indicated by noninvasive prenatal screening (NIPS). METHODS: Samples from women who underwent prenatal diagnosis for the indication of positive NIPS of T13, T18, T21, and SCAs were collected. Each sample was split into two for both karyotype analysis and FISH analysis. The efficiency and consistency of FISH were assessed for the detection of chromosome abnormalities in the indications of positive NIPS results compared with karyotyping. RESULTS: A total of 649 pregnant women who scored positive for clinical significance of fetal chromosome abnormalities by NIPS were enrolled in our study, including T 13 (6%), T18 (14.3%), T21 (44.7%), SCAs (35.0%). From the following diagnostic test, the positive predictive value (PPV) of NIPS for T13, T18, T21, and SCAs was 17.9, 60.2, 89.3, and 43.6% respectively. FISH analysis was successful in all samples. Compared with karyotyping, the sensitivity and specificity were 98.3 and 100%, respectively. 95.7% (621/649) were fully concordant with karyotyping. 3.2% (21/649) cases were incompletely concordant with the karyotyping, among these cases, the FISH analysis identified all the aneuploidies, but karyotyping analysis provided more information about the chromosomal structure. There were 7 cases (1.1%, 7/649) of anomalies diagnosed by karyotype but missed out by FISH, all of which occurred in cases with the indication of SCAs. If the indications were confined to cases with a positive NIPS of T13, T18, T21, the diagnostic consistency of the two methods almost perfectly agree, and all the aneuploidies were detected by the FISH assay. FISH analysis was highly consistent in determining whether the fetus was euploid or not in the prenatal diagnosis for the patients with positive NIPS results compared with karyotyping (kappa= 0.976, p < .01). CONCLUSION: For the prenatal diagnostic indications of positive NIPS of T13, T18, T21, and SCAs, FISH was equally efficacious in identifying aneuploidies and provided a quick diagnosis to alleviate anxiety. However, the missed risk of FISH analysis for structural chromosomal abnormalities should be taken seriously and fully informed during genetic counseling. FAU - Ju, Duan AU - Ju D AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. FAU - Li, Xiaozhou AU - Li X AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. FAU - Shi, Yunfang AU - Shi Y AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. FAU - Ma, Yanhong AU - Ma Y AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. FAU - Guo, Liqiong AU - Guo L AD - Institute of Disaster Medicine, Tianjin University, Tianjin, China. FAU - Wang, Yanli AU - Wang Y AD - Department of Obstetrics, The Second Hospital of Tianjin Medical University, Tianjin, China. FAU - Ma, Ruiyu AU - Ma R AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. FAU - Zhong, Yuanyue AU - Zhong Y AD - Department of Obstetrics & Gynecology, Guangdong Province Hospital for Women and Children Healthcare, Guangzhou, China. FAU - Zhang, Ying AU - Zhang Y AUID- ORCID: 0000-0002-6520-1220 AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. FAU - Xue, Fengxia AU - Xue F AD - Department of Obstetrics & Gynecology, Tianjin Medical University General Hospital, Tianjin, China. AD - Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, China. LA - eng PT - Journal Article DEP - 20210721 PL - England TA - J Matern Fetal Neonatal Med JT - The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians JID - 101136916 SB - IM MH - Female MH - Humans MH - Pregnancy MH - Aneuploidy MH - Chromosome Aberrations MH - In Situ Hybridization, Fluorescence MH - *Noninvasive Prenatal Testing MH - Prenatal Diagnosis/methods MH - Sex Chromosome Aberrations OTO - NOTNLM OT - FISH OT - NIPS OT - karyotype analysis OT - prenatal diagnosis EDAT- 2021/07/23 06:00 MHDA- 2022/11/24 06:00 CRDT- 2021/07/22 05:31 PHST- 2021/07/23 06:00 [pubmed] PHST- 2022/11/24 06:00 [medline] PHST- 2021/07/22 05:31 [entrez] AID - 10.1080/14767058.2021.1949449 [doi] PST - ppublish SO - J Matern Fetal Neonatal Med. 2022 Dec;35(25):7422-7429. doi: 10.1080/14767058.2021.1949449. Epub 2021 Jul 21.