Harmon J P, Hiett A K, Palmer C G, Golichowski A M
Department of Obstetrics and Gynecology, Indiana University School of Medicine, Indianapolis, USA.
Obstet Gynecol. 1995 Oct;86(4 Pt 1):595-9. doi: 10.1016/0029-7844(95)00206-7.
To determine the value of cytogenetic evaluation in fetuses with isolated neural tube defects diagnosed by prenatal ultrasound.
Fifty-five thousand two hundred sixty obstetric ultrasounds performed for various indications at the Indiana University Prenatal Diagnostic Center from July 1988 to March 1994 were reviewed using a computerized data base. Excluding all cases of anencephaly, fetuses with isolated neural tube defects were identified. Maternal demographic data, pregnancy outcomes, level of defect, and fetal karyotype when available were obtained. Statistical analysis was performed using the chi 2 test, when appropriate. P < or = .05 was considered statistically significant.
Seventy-seven medical record charts of women with prenatally diagnosed isolated fetal neural tube defects were reviewed. Nineteen pregnancies were terminated, 42 pregnancies were delivered, and 16 pregnancies were lost to follow-up. Karyotypes were available in 43 of the 77 cases (55.8%). The theoretical risk of chromosomal anomalies in this sample population based solely on maternal age was 0.3%. Of the 43 documented karyotypes, seven chromosomal anomalies were discovered (16.3%). The difference was statistically significant (P = .012). Detected chromosomal anomalies included two trisomy 18, two triploid 69,XXX, one triploid 69,XXY, one balanced Robertsonian translocation t(13q,14q), and one inversion in the q arm of the X chromosome.
The prevalence of karyotypic abnormalities is significantly increased in fetuses with isolated neural tube defects; therefore, prompt antenatal genetic evaluation should be considered in such cases.
确定细胞遗传学评估在产前超声诊断为单纯神经管缺陷胎儿中的价值。
利用计算机数据库回顾了1988年7月至1994年3月在印第安纳大学产前诊断中心因各种指征进行的55260例产科超声检查。排除所有无脑儿病例，确定为单纯神经管缺陷的胎儿。获取产妇人口统计学数据、妊娠结局、缺陷程度以及可获得的胎儿核型。在适当情况下使用卡方检验进行统计分析。P≤0.05被认为具有统计学意义。
回顾了77例产前诊断为单纯胎儿神经管缺陷的女性病历。19例妊娠终止，42例妊娠分娩，16例妊娠失访。77例中有43例（55.8%）获得了核型。仅基于产妇年龄，该样本人群中染色体异常的理论风险为0.3%。在43份记录的核型中，发现了7例染色体异常（16.3%）。差异具有统计学意义（P = 0.012）。检测到的染色体异常包括2例18三体、2例三倍体69,XXX、1例三倍体69,XXY、1例平衡罗伯逊易位t(13q,14q)和1例X染色体长臂倒位。
单纯神经管缺陷胎儿中核型异常的发生率显著增加；因此，在此类病例中应考虑进行及时的产前遗传学评估。
