Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Prenat Diagn. 2011 Nov;31(11):1046-53. doi: 10.1002/pd.2829. Epub 2011 Jul 29.
To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD).
We identified pregnancy and neonatal complications and serum screening results from mothers of TTD patients in a DNA repair diseases study from 2001 to 2011.
Pregnancy reports of 27 TTD patients and their 23 mothers were evaluated and 81% of the pregnancies had complications: 56% had preterm delivery, 30% had preeclampsia, 19% had placental abnormalities, 11% had HELLP syndrome, and 4% had an emergency c-section for fetal distress, while 44% had two or more complications. Only 19% of the pregnancies delivered at term without complications. Eight of the ten pregnancies tested had abnormal multiple marker results including elevated levels of human chorionic gonadotrophin. Eighty-five percent of the neonates had complications: 70% were low birth weight (<2500 g), 35% had birth weight < 10 centile for gestational age, 70% had NICU admission, 67% had a collodion membrane, and 31% of the 16 males had cryptorchidism. Cataracts were present in 54% of the TTD patients examined.
TTD is a multisystem disease that predisposes mothers of affected patients to substantial risks for pregnancy complications and TTD neonates have a high incidence of multiple abnormalities.
确定患有先天性毛发硫营养不良症（TTD）的胎儿妊娠和新生儿并发症的频率。
我们从 2001 年至 2011 年的 DNA 修复疾病研究中确定了 TTD 患者的母亲的妊娠和新生儿并发症及血清筛查结果。
评估了 27 例 TTD 患者及其 23 位母亲的妊娠报告，其中 81%的妊娠出现并发症：56%的妊娠早产，30%的妊娠子痫前期，19%的妊娠胎盘异常，11%的妊娠 HELLP 综合征，4%的妊娠因胎儿窘迫行紧急剖宫产术，而 44%的妊娠有两种或更多并发症。仅有 19%的妊娠无并发症地足月分娩。十个妊娠中，有八个测试的多重标志物结果异常，包括人绒毛膜促性腺激素水平升高。85%的新生儿出现并发症：70%的新生儿出生体重低（<2500g），35%的新生儿出生体重<胎龄的第 10 百分位，70%的新生儿入住新生儿重症监护病房，67%的新生儿有羊膜囊，16 名男性中有 31%患有隐睾症。54%接受检查的 TTD 患者有白内障。
TTD 是一种多系统疾病，使受影响患者的母亲妊娠并发症风险显著增加，TTD 新生儿有多种异常的高发率。
