胎儿恒河猴D基因分型和胎儿D阴性胎儿血浆性别测定:传统聚合酶链反应在资源有限环境下的实用性。

IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Obstetrics and Gynecology International Pub Date : 2020-10-16 eCollection Date: 2020-01-01 DOI:10.1155/2020/4913793
Otchere Addai-Mensah, Edward Y Afriyie, Samuel Asamoah Sakyi, Christian Obirikorang, Max Efui Annani-Akollor, Eddie-Williams Owiredu, Francis A Amponsah, Richard Vikpebah Duneeh, Evans Asamoah Adu
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Blood samples were collected from each participant (in the third trimester of pregnancy) for DNA extraction/purification and fetal RhD genotyping.</p><p><strong>Results: </strong>Out of the 30 samples, 26 (86.7%) were found to be RhD+ while 4 (13.3%) were RhD-. The RhD+ comprised 24 (80.0%) RhD+ based on exons 5, 7, and 10 combined. Exons 5 and 7 were detected in two additional samples but not exon 10. Serological phenotyping of neonatal blood confirmed 26 RhD+ and 4 RhD-. There was a perfect agreement between the fetal RhD genotype and neonatal RhD phenotyping after delivery for exons 5 and 7 (concordance = 100%, <i>κ</i> = 100.0%, diagnostic accuracy = 100%, <i>p</i> < 0.0001) while exon 10 presented with an almost perfect agreement (concordance = 93.3%, <i>κ</i> = 76.2%, diagnostic accuracy = 93.3%, <i>p</i> < 0.0001). Regarding the prenatal test for the SRY gene, 9 (30.0%) were predicted to be males and the remaining 21 (60.0%) were females. 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引用次数: 0

摘要

背景:本前瞻性队列研究评估了传统PCR在资源有限的条件下从RhD阴性(RhD-)产前人群的母体血浆中分型胎儿D河猴(RhD)和性别的有效性。方法:选取30例RhD阳性(RhD+)伴侣的明显健康RhD孕妇。采集每位参与者(妊娠晚期)的血液样本进行DNA提取/纯化和胎儿RhD基因分型。结果:30例标本中,RhD+ 26例(86.7%),RhD- 4例(13.3%)。RhD+由24个(80.0%)基于外显子5、7和10的RhD+组成。在另外两个样品中检测到外显子5和7,但未检测到外显子10。新生儿血液血清学表型证实26例RhD+和4例RhD-。胎儿RhD基因型和新生儿RhD表型在5和7外显子上完全一致(一致性= 100%,κ = 100.0%,诊断准确率= 100%,p < 0.0001),而在10外显子上几乎完全一致(一致性= 93.3%,κ = 76.2%,诊断准确率= 93.3%,p < 0.0001)。产前SRY基因检测预测男性9例(30.0%),女性21例(60.0%)。所有9例和21例预期男性和女性分别在分娩后得到确认(一致性= 100%,κ = 100.0%,诊断准确性= 100%)。结论:我们的研究表明,在资源有限的情况下,使用SRY, RhD外显子5和7的传统PCR可用于预测胎儿性别和RhD。
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Fetal Rhesus D Genotyping and Sex Determination from Maternal Plasma of Rhesus D-Negative Antenatal Population: The Usefulness of Conventional Polymerase Chain Reaction in Resource-limited Settings.

Background: This prospective cohort study evaluated the usefulness of conventional PCR in genotyping fetal Rhesus D (RhD) and sex from the maternal plasma of RhD-negative (RhD-) antenatal population in resource-limited settings.

Methods: Thirty apparently healthy RhD- pregnant women with RhD positive (RhD+) partners were included. Blood samples were collected from each participant (in the third trimester of pregnancy) for DNA extraction/purification and fetal RhD genotyping.

Results: Out of the 30 samples, 26 (86.7%) were found to be RhD+ while 4 (13.3%) were RhD-. The RhD+ comprised 24 (80.0%) RhD+ based on exons 5, 7, and 10 combined. Exons 5 and 7 were detected in two additional samples but not exon 10. Serological phenotyping of neonatal blood confirmed 26 RhD+ and 4 RhD-. There was a perfect agreement between the fetal RhD genotype and neonatal RhD phenotyping after delivery for exons 5 and 7 (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%, p < 0.0001) while exon 10 presented with an almost perfect agreement (concordance = 93.3%, κ = 76.2%, diagnostic accuracy = 93.3%, p < 0.0001). Regarding the prenatal test for the SRY gene, 9 (30.0%) were predicted to be males and the remaining 21 (60.0%) were females. All the 9 and 21 anticipated males and females, respectively, were confirmed after delivery (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%).

Conclusion: Our study suggests that conventional PCR using the SRY, RhD exons 5 and 7 could be useful for predicting fetal sex and RhD from maternal peripheral blood in resource-limited settings.

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来源期刊
Obstetrics and Gynecology International
Obstetrics and Gynecology International OBSTETRICS & GYNECOLOGY-
CiteScore
3.60
自引率
0.00%
发文量
26
审稿时长
19 weeks
期刊介绍: Obstetrics and Gynecology International is a peer-reviewed, Open Access journal that aims to provide a forum for scientists and clinical professionals working in obstetrics and gynecology. The journal publishes original research articles, review articles, and clinical studies related to obstetrics, maternal-fetal medicine, general gynecology, gynecologic oncology, uro-gynecology, reproductive medicine and infertility, reproductive endocrinology, and sexual medicine.
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