Van Regemorter N, Vamos E, Defleur V, el Khazen N, Jeanty P, Levi S, Avni F, Foulon W, Liebaers I, Rodesch F
Acta Obstet Gynecol Scand. 1986;65(1):27-32. doi: 10.3109/00016348609158225.
Late amniocenteses (greater than 20 weeks' gestation) were performed in 114 pregnancies with no a priori genetic risk, but referred because of abnormal clinical and/or ultrasound findings suggesting fetal malformations. Reasons for referral included polyhydramnios (51 cases), oligohydramnios (15 cases), fetal growth retardation (FGR) (16 cases) and abnormal fetal ultrasound findings excluding anencephaly (32 cases). In 42 of these cases, referral was motivated by a combination of the above abnormal findings. When polyhydramnios was the sole anomaly (25 cases), 5 fetuses were malformed (20%), abnormal fetal karyotype and/or elevated amniotic fluid alphafetoprotein (AFP) were demonstrated in 2 cases. Oligohydramnios was the sole anomaly in one case; the infant died of prematurity. Fetal growth retardation was the sole anomaly in 14 cases, 11 otherwise normal newborns were small for date, 2 died at birth and 1 was malformed (1/14, 7%). In this group all fetal karyotypes were normal and in 2 cases amniotic fluid AFP were increased. In the 32 pregnancies without abnormal amniotic fluid volume and/or FGR and with fetal malformation(s) suggested by ultrasound, all malformations except one (ovarian cyst possibly ruptured during birth) were confirmed at birth, amniotic fluid AFP was elevated, and/or karyotype was abnormal in 6 cases. In 42 pregnancies where more than one alarm sign was present, abnormal karyotype and/or elevated amniotic fluid AFP level were recorded in 21 of the 39 cases where amniocentesis was performed, 33 fetuses were malformed (79%) and 13 died in the perinatal period (31%). The high incidence of abnormal results of amniocentesis found in this survey of pathological pregnancies, particularly in those with multiple alarm signs, emphasizes the need for amniocentesis in these situations.
对114例无先证者遗传风险的妊娠进行了晚期羊膜腔穿刺术（妊娠20周以上），这些孕妇因临床和/或超声检查结果异常提示胎儿畸形而前来就诊。转诊原因包括羊水过多（51例）、羊水过少（15例）、胎儿生长受限（FGR）（16例）以及排除无脑儿的胎儿超声检查结果异常（32例）。在这些病例中，42例是由上述多种异常结果共同导致转诊。当羊水过多是唯一异常情况时（25例），5例胎儿畸形（20%），2例显示胎儿核型异常和/或羊水甲胎蛋白（AFP）升高。羊水过少是唯一异常情况的有1例；婴儿死于早产。胎儿生长受限是唯一异常情况的有14例，11例其他方面正常的新生儿小于孕周，2例出生时死亡，1例畸形（1/14，7%）。该组所有胎儿核型均正常，2例羊水AFP升高。在32例羊水体积和/或FGR无异常但超声提示胎儿畸形的妊娠中，除1例（卵巢囊肿可能在出生时破裂）外，所有畸形在出生时均得到证实，6例羊水AFP升高和/或核型异常。在存在多个警示信号的42例妊娠中，在进行羊膜腔穿刺术的39例中，21例记录到核型异常和/或羊水AFP水平升高，33例胎儿畸形（79%），13例在围产期死亡（31%）。在本次病理性妊娠调查中发现的羊膜腔穿刺术异常结果的高发生率，尤其是在那些有多个警示信号的病例中，强调了在这些情况下进行羊膜腔穿刺术的必要性。
