Rotmensch Sigi, Celentano Claudio, Sadan Oscar, Liberati Marco, Lev Dorit, Glezerman Marek
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, The Edith Wolfson Medical Center, Holon, Israel.
Prenat Diagn. 2004 Apr;24(4):260-4. doi: 10.1002/pd.849.
Nonseptated cystic hygromata of the fetal neck in midtrimester of pregnancy have been associated with chromosomal and structural malformations. Consequently, fetal karyotyping is frequently offered. We describe 18 families in which 18 pairs of siblings were affected by transient nonseptated cystic hygromata in utero.
Over a seven-year period, 18 families came to our attention, with a recurrent diagnosis of fetal nonseptated cystic hygromata in two subsequent pregnancies. Detailed anatomic surveys by transvaginal ultrasound were performed between 14 to 16 weeks' gestation on the basis of self-referral. Sonographic markers for fetal aneuploidy were specifically looked for. Nonseptated cystic hygroma was diagnosed when unilateral or bilateral cystic dilations in the anterolateral aspect of the fetal neck were present, as described by Bronshtein et al. (1989). All patients underwent amniocentesis, fetal echocardiography, and transabdominal follow-up ultrasound scan at 22 to 24 weeks' gestation.
Thirty-six sibling fetuses with isolated nonseptated hygromata (unilateral n = 5; bilateral n = 31) were identified. Amniocentesis revealed normal karyotypes in all 36 fetuses, including 20 males and 16 females. Fetal echocardiograms and neonatal pediatric examinations were normal. Sonographic resolution of the cystic hygromata was noted in all cases at the 22 to 24 weeks' follow-up scan. One pregnancy, producing a female newborn, was conceived by a remarried mother. All others were reportedly conceived by the same partners. Probability calculations suggest that if our findings were explained by chance alone, a population base of 367,000 pregnancies would have to be scanned in order to find 18 pairs of siblings with nonseptated cystic hygromata.
The familial occurrence and identical natural history of the cystic lesions in utero suggest the presence of an inheritable developmental syndrome affecting the lymphatic system in utero, but without long-term sequelae.
妊娠中期胎儿颈部的非分隔性囊状水瘤与染色体及结构畸形有关。因此，常进行胎儿染色体核型分析。我们描述了18个家庭，其中18对兄弟姐妹在子宫内受到短暂性非分隔性囊状水瘤的影响。
在7年的时间里，18个家庭引起了我们的注意，他们在随后的两次妊娠中均反复诊断出胎儿非分隔性囊状水瘤。基于自我转诊，在妊娠14至16周期间经阴道超声进行详细的解剖学检查。特别寻找胎儿非整倍体的超声标记物。当胎儿颈部前外侧出现单侧或双侧囊性扩张时，按照布隆施泰因等人（1989年）的描述诊断为非分隔性囊状水瘤。所有患者在妊娠22至24周时均接受了羊膜穿刺术、胎儿超声心动图检查及经腹随访超声扫描。
识别出36例患有孤立性非分隔性水瘤的同胞胎儿（单侧5例；双侧31例）。羊膜穿刺术显示所有36例胎儿的染色体核型均正常，其中男性20例，女性16例。胎儿超声心动图检查及新生儿儿科检查均正常。在22至24周的随访扫描中，所有病例的囊状水瘤均在超声下消退。有一次妊娠产下一名女婴，母亲为再婚。据报道其他所有妊娠均由相同伴侣受孕。概率计算表明，如果我们的发现仅由偶然因素解释，那么为了找到18对患有非分隔性囊状水瘤的兄弟姐妹，需要对367,000例妊娠进行扫描。
子宫内囊性病变的家族性发生及相同的自然病史表明存在一种可遗传的发育综合征，影响子宫内的淋巴系统，但无长期后遗症。
