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孕妇先天性骶骨发育不全的产前咨询到分娩:病例报告。

Pregnancy in a woman with sacral agenesis from prenatal counseling to delivery: A case report.

机构信息

Department of Obstetrics and Gynecology, University of Bologna, Sant'Orsola- Malpighi University Hospital, Bologna, Italy.

出版信息

J Obstet Gynaecol Res. 2020 May;46(5):784-786. doi: 10.1111/jog.14240. Epub 2020 Mar 5.

Abstract

Sacral agenesis or CRS (caudal regression syndrome) is a rare congenital condition involving approximately 1 in 25 000 live births (Sharma et al., 2015) and leading to the absence of lower sacral vertebral bodies and severe malformations of the pelvis. This condition is associated with an extreme reduction of the xipho-pubic distance and of the pelvic dimensions. It is reasonable to think that this might lead to an increased difficulty in obtaining a spontaneous pregnancy and to a consistently increased risk of maternal and perinatal complications. In literature, very little is known about pregnancy in patients with sacral agenesis and therefore on the appropriate way to counsel a patient with this condition who is trying to get pregnant (Greenwell et al., 2013). Although a case of pregnancy in a woman with sacral agenesis is mentioned in a book (J. Rogers, 2006) no cases of women with CRS carrying a pregnancy until a viable age for the fetus are reported in medical literature: as far as we know this is the first case reported in literature of a woman with this condition followed before and throughout the pregnancy with reported pre- and perinatal management, leading to a near-term pregnancy. This case could be useful for clinicians who are requested to counsel female patients with the same condition on the possibility of a pregnancy and possible outcomes.

摘要

骶骨发育不全或 CRS(尾部退化综合征)是一种罕见的先天性疾病,约占活产儿的 1/25000(Sharma 等人,2015 年),导致下骶骨椎体缺失和骨盆严重畸形。这种情况与耻骨-脐距和骨盆尺寸的极度减小有关。因此,可以合理地认为这可能导致自然妊娠的难度增加,并使母婴和围产期并发症的风险持续增加。在文献中,对于患有骶骨发育不全的患者的妊娠情况知之甚少,因此对于试图怀孕的此类患者应如何进行适当的咨询(Greenwell 等人,2013 年)。尽管在一本书中提到了一例患有骶骨发育不全的女性妊娠(J. Rogers,2006 年),但在医学文献中没有报道过 CRS 女性怀孕至胎儿可存活的年龄的病例:据我们所知,这是首例报道的该条件的女性病例,在整个妊娠期间都进行了报告的产前和围产期管理,导致足月妊娠。对于要求对患有相同疾病的女性患者进行妊娠可能性和可能结果咨询的临床医生来说,这个病例可能会有所帮助。

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