AP-HP, Hôpital Bicêtre, Service Gynécologie Obstétrique, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
Eur J Obstet Gynecol Reprod Biol. 2013 Dec;171(2):197-204. doi: 10.1016/j.ejogrb.2013.09.005. Epub 2013 Sep 11.
Early prenatal diagnosis of fetal sex is necessary to optimize pregnancy management in families known to be at risk of some heritable disorders. The demonstration of cell-free fetal DNA (cffDNA) in the mother's blood has made it possible to identify Y chromosome sequences in maternal blood and to determine fetal sex noninvasively, during the first trimester. This procedure can significantly reduce the number of invasive procedures for women with fetuses at risk of sex-linked diseases and optimize the management of these pregnancies. Fetal sex can be diagnosed by ultrasound with the same sensitivity and specificity, but later in pregnancy. We performed a review of the published literature evaluating the use of cffDNA and ultrasound for prenatal determination of fetal sex during the first trimester of pregnancy. We present the feasibility of the two methods and their impact on clinical practice. We applied a sensitive search of multiple bibliographic databases including Pubmed (MEDLINE), EMBASE, the Cochrane Library and Web of science between 1998 and 2013. Sixteen reports of the determination of fetal sex in maternal blood and 13 reports of the determination by ultrasound met our inclusion criteria. We found a sensitivity and specificity of nearly 100% from 8 weeks of gestation for cffDNA and from 13 weeks of gestation for ultrasound respectively. Based on this review, we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA and at an earlier gestation than ultrasound. Ten years after the first feasibility study, the French National Authority for Health (HAS) released a technological assessment report on the determination of fetal sex in maternal blood, which has resulted in validating this test for reimbursement by the national health insurance fund for the following indications: X-linked recessive disease and congenital adrenal hyperplasia.
早期产前诊断胎儿性别对于优化已知存在某些遗传性疾病风险的家庭的妊娠管理是必要的。在母亲的血液中证明无细胞胎儿 DNA（cffDNA）的存在使得有可能在妊娠早期非侵入性地识别母体血液中的 Y 染色体序列，并确定胎儿性别。该程序可以显著减少有胎儿性连锁疾病风险的女性进行侵入性程序的数量，并优化这些妊娠的管理。通过超声可以以相同的灵敏度和特异性但在妊娠后期来诊断胎儿性别。我们对评估在妊娠早期使用 cffDNA 和超声进行产前胎儿性别诊断的已发表文献进行了综述。我们介绍了这两种方法的可行性及其对临床实践的影响。我们对多个文献数据库（包括 Pubmed（MEDLINE），EMBASE，Cochrane 图书馆和 Web of Science）进行了敏感搜索，检索时间范围为 1998 年至 2013 年。符合我们纳入标准的有 16 篇关于在母血中确定胎儿性别的报告和 13 篇关于通过超声确定胎儿性别的报告。我们发现，cffDNA 的灵敏度和特异性分别从妊娠 8 周和妊娠 13 周开始接近 100％。基于这项综述，我们得出结论，通过分析 cffDNA 可以在比超声更早的孕龄确定胎儿性别，并且具有较高的准确性。在首次可行性研究进行十年后，法国国家健康与医学研究院（HAS）发布了一份关于在母血中确定胎儿性别的技术评估报告，这使得该测试在以下情况下得到了国家健康保险基金的报销验证：X 连锁隐性疾病和先天性肾上腺增生症。
