Abstract：
OBJECTIVE: To evaluate the correlation of high levels [>2.0 multiples of median (MoM)] of amniotic fluid alpha-fetoprotein (AFAFP) in midtrimester with abnormal fetal outcome.
METHODS: We retrospectively studied 6245 pregnant women with singleton pregnancy who had undergone amniocentesis between 15 and 27 weeks\' gestation at Mackay Memorial Hospital between January 2014 and June 2020. Fifty-five cases had high AFAFP levels (>2.0 MoM). We investigated the abnormal fetal outcomes.
RESULTS: Among the fifty-five cases with high AFAFP levels (>2.0 MoM), thirty (54.5%) had fetal chromosomal abnormalities, major structural abnormalities, and/or adverse obstetric events. Eight cases (14.5%) had chromosomal abnormalities including trisomy 21 (3 cases), trisomy 18 (3 cases), mosaic trisomy 18 (1 cases), and mosaic ring 13 (1 case). Seventeen cases (30.9%) had major structural abnormalities including abdominal wall defect (6 cases) and central nervous system (5 cases), gastrointestinal tract (3 cases), cardiovascular (2 cases), and genitourinary tract (2 cases) abnormalities. Fifteen cases (27%) had adverse obstetric events, including preterm delivery (5 cases), intrauterine fetal demise (4 cases), small for gestational age (4 cases), preeclampsia (4 cases), gestational diabetes mellitus (2 cases), gestational hypertension (1 case), preterm prelabor rupture of membrane (1 case), prolonged labor (1 case), and preterm uterine contraction (1 case).
CONCLUSIONS: A high AFAFP level (>2.0 MoM) in midtrimester can be associated with abnormal fetal outcome, including chromosomal abnormalities, major structural abnormalities, and adverse obstetric events. Women with a prenatal diagnosis of high AFAFP levels (>2.0 MoM) should be alerted of the possibility of abnormal fetal outcomes, and further detailed genetic studies and serial sonographic examinations are recommended.
METHODS: We retrospectively studied 6245 pregnant women with singleton pregnancy who had undergone amniocentesis between 15 and 27 weeks\' gestation at Mackay Memorial Hospital between January 2014 and June 2020. Fifty-five cases had high AFAFP levels (>2.0 MoM). We investigated the abnormal fetal outcomes.
RESULTS: Among the fifty-five cases with high AFAFP levels (>2.0 MoM), thirty (54.5%) had fetal chromosomal abnormalities, major structural abnormalities, and/or adverse obstetric events. Eight cases (14.5%) had chromosomal abnormalities including trisomy 21 (3 cases), trisomy 18 (3 cases), mosaic trisomy 18 (1 cases), and mosaic ring 13 (1 case). Seventeen cases (30.9%) had major structural abnormalities including abdominal wall defect (6 cases) and central nervous system (5 cases), gastrointestinal tract (3 cases), cardiovascular (2 cases), and genitourinary tract (2 cases) abnormalities. Fifteen cases (27%) had adverse obstetric events, including preterm delivery (5 cases), intrauterine fetal demise (4 cases), small for gestational age (4 cases), preeclampsia (4 cases), gestational diabetes mellitus (2 cases), gestational hypertension (1 case), preterm prelabor rupture of membrane (1 case), prolonged labor (1 case), and preterm uterine contraction (1 case).
CONCLUSIONS: A high AFAFP level (>2.0 MoM) in midtrimester can be associated with abnormal fetal outcome, including chromosomal abnormalities, major structural abnormalities, and adverse obstetric events. Women with a prenatal diagnosis of high AFAFP levels (>2.0 MoM) should be alerted of the possibility of abnormal fetal outcomes, and further detailed genetic studies and serial sonographic examinations are recommended.
摘要：
目的：评估中期羊水甲胎蛋白（AFAFP）水平[>2.0中位数倍数（MoM）]与异常胎儿结局的相关性。
方法：我们回顾性研究了2014年1月至2020年6月在MackayMemorial医院进行羊膜穿刺术的6245例单胎妊娠孕妇。55例患者的AFAFP水平较高（>2.0MoM）。我们调查了异常的胎儿结局。
结果：在55例高AFFP水平（>2.0MoM）的病例中，三十（54.5%）有胎儿染色体异常，主要结构异常，和/或不良产科事件。染色体异常8例(14.5%),包括21三体(3例),三体18(3例)，镶嵌三体18(1例)，和马赛克环13（1例）。主要结构异常17例(30.9%)包括腹壁缺损(6例)和中枢神经系统(5例),胃肠道（3例），心血管（2例），泌尿生殖道异常(2例)。15例（27%）有不良产科事件，包括早产（5例），胎儿宫内死亡（4例），小于胎龄（4例），先兆子痫（4例），妊娠期糖尿病（2例），妊娠期高血压(1例),早产胎膜破裂（1例），长时间分娩(1例)，和早产子宫收缩（1例）。
结论：中期高AFAFP水平（>2.0MoM）可能与胎儿异常结局有关，包括染色体异常,主要结构异常，和不良产科事件。产前诊断为高AFAFP水平（>2.0MoM）的妇女应警惕异常胎儿结局的可能性，并进一步详细的遗传研究和连续超声检查建议。
方法：我们回顾性研究了2014年1月至2020年6月在MackayMemorial医院进行羊膜穿刺术的6245例单胎妊娠孕妇。55例患者的AFAFP水平较高（>2.0MoM）。我们调查了异常的胎儿结局。
结果：在55例高AFFP水平（>2.0MoM）的病例中，三十（54.5%）有胎儿染色体异常，主要结构异常，和/或不良产科事件。染色体异常8例(14.5%),包括21三体(3例),三体18(3例)，镶嵌三体18(1例)，和马赛克环13（1例）。主要结构异常17例(30.9%)包括腹壁缺损(6例)和中枢神经系统(5例),胃肠道（3例），心血管（2例），泌尿生殖道异常(2例)。15例（27%）有不良产科事件，包括早产（5例），胎儿宫内死亡（4例），小于胎龄（4例），先兆子痫（4例），妊娠期糖尿病（2例），妊娠期高血压(1例),早产胎膜破裂（1例），长时间分娩(1例)，和早产子宫收缩（1例）。
结论：中期高AFAFP水平（>2.0MoM）可能与胎儿异常结局有关，包括染色体异常,主要结构异常，和不良产科事件。产前诊断为高AFAFP水平（>2.0MoM）的妇女应警惕异常胎儿结局的可能性，并进一步详细的遗传研究和连续超声检查建议。
