title: High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
abstract: OBJECTIVE
  To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: Melissa
authors.initials: M
authors.lastname: Merideth
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: Xiaolong
authors.initials: X
authors.lastname: Zhou
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Tucker
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
authors.forename: Sikandar G
authors.initials: SG
authors.lastname: Khan
authors.forename: Kyu-Seon
authors.initials: KS
authors.lastname: Oh
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Jennifer
authors.initials: J
authors.lastname: Boyle
authors.forename: Roxana
authors.initials: R
authors.lastname: Moslehi
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
mesh_terms: D000328:Adult; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D047109:Fetal Development / Q000235:genetics*; D017359:HELLP Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011225:Pre-Eclampsia / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D018566:Pregnancy, High-Risk / Q000097:blood / Q000235:genetics*; D014158:Transcription, Genetic; D054463:Trichothiodystrophy Syndromes / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult