Khare Manjiri, Howarth Edmund, Sadler Jean, Healey Karen, Konje Justin C
Women's Perinatal and Sexual Health Services Directorate, University Hospitals of Leicester NHS Trust, UK.
Prenat Diagn. 2005 Dec;25(13):1192-5. doi: 10.1002/pd.1295.
Aneuploidy is an important cause of intrauterine fetal death (IUFD) after the first trimester. Determination of the fetal karyotype of these pregnancies is commonly done in most units from solid tissues. Results from such techniques are disappointing. The aim of this audit was to compare the results of karyotyping IUFD by invasive testing (amniocentesis or chorionic villus sampling) and solid tissues (skin biopsy).
Women with IUFD managed in our unit between 1 January 1998 and 31 December 2002 (inclusive) were offered either invasive testing before medical induction of labour or solid tissue biopsy after delivery. The amniotic fluid, chorionic villi and biopsies were processed following standard laboratory procedures.
During the 60 months, 230 samples from cases of IUFD were received by the laboratory in our unit; 126 had skin biopsies and 104 underwent invasive testing (81 amniocenteses and 23 chorionic villus sampling). Successful karyotyping was possible in 90% of those who underwent amniocentesis, 100% of those who had chorionic villus sampling and 13.5% of those who had skin biopsies. 50% of skin biopsies were unsuitable for analysis compared to none in the CVS and amniocentesis group. The difference in successful karyotyping between invasive testing and solid tissue testing was statistically significant (P < 0.0001). There were 12 (10.6%) abnormal karyotypes from the 113 successful samples (11/96 in the invasive group versus 1/17 in the solid tissue group).
Invasive testing has a much higher success rate of karyotyping in cases of IUFD and should, therefore, be offered to women presenting with this complication irrespective of gestational age.
非整倍体是孕早期后胎儿宫内死亡（IUFD）的一个重要原因。大多数单位通常从实体组织来确定这些妊娠的胎儿核型。这些技术的结果并不理想。本次审核的目的是比较通过侵入性检测（羊膜穿刺术或绒毛取样）和实体组织（皮肤活检）对IUFD进行核型分析的结果。
1998年1月1日至2002年12月31日（含）在本单位接受治疗的IUFD女性患者，在引产术前可选择侵入性检测，或在分娩后进行实体组织活检。羊水、绒毛和活检样本按照标准实验室程序进行处理。
在这60个月期间，本单位实验室共收到230例IUFD样本；126例进行了皮肤活检，104例接受了侵入性检测（81例羊膜穿刺术和23例绒毛取样）。接受羊膜穿刺术的患者中90%成功进行了核型分析，接受绒毛取样的患者中100%成功进行了核型分析，而接受皮肤活检的患者中只有13.5%成功进行了核型分析。50%的皮肤活检样本不适于分析，而绒毛取样和羊膜穿刺术组均无此情况。侵入性检测和实体组织检测在成功进行核型分析方面的差异具有统计学意义（P < 0.0001）。在113例成功样本中，有12例（10.6%）核型异常（侵入性检测组96例中有11例，实体组织组17例中有1例）。
在IUFD病例中，侵入性检测的核型分析成功率要高得多，因此，无论孕周如何，都应向出现这种并发症的女性提供侵入性检测。
