Etiology and perinatal outcome of periviable fetal growth restriction associated with structural or genetic anomaly

Ultrasound Obstet Gynecol. 2020 Mar;55(3):368-374. doi: 10.1002/uog.20368. Epub 2020 Feb 14.

Abstract

Objective: To investigate the etiology and perinatal outcome of periviable fetal growth restriction (FGR) associated with a structural defect or genetic anomaly.

Methods: This was a retrospective study of singleton pregnancies seen at a referral fetal medicine unit between 2005 and 2018, in which FGR (defined as fetal abdominal circumference ≤ 3rd percentile for gestational age) was diagnosed between 22 + 0 and 25 + 6 weeks of gestation. The study group included pregnancies with periviable FGR associated with a genetic or structural anomaly (anomalous FGR), while the control group consisted of structurally and genetically normal pregnancies with periviable FGR (non-anomalous FGR). Results of genetic testing, TORCH screen and postmortem examination, as well as perinatal outcome, were investigated.

Results: Of 255 pregnancies complicated by periviable FGR, 188 were eligible; of which 52 (28%) had anomalous FGR and 136 (72%) had non-anomalous FGR. A confirmed genetic abnormality accounted for 17/52 cases (33%) of anomalous FGR, with trisomy 18 constituting over 50% (9/17; 53%). The most common structural defects associated with FGR were central nervous system abnormalities (13/35; 37%). Overall, 12 (23%) cases of anomalous FGR survived the neonatal period. No differences were found in terms of perinatal survival between pregnancies with anomalous and those with non-anomalous FGR.

Conclusions: Most pregnancies complicated by anomalous FGR were associated with a structural defect. The presence of an associated genetic defect was invariably lethal, while those with a structural defect, in the absence of a confirmed genetic abnormality, survived into infancy in over 90% of cases, with an overall one in three chance of perinatal survival. These data can be used for counseling prospective parents. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Keywords: abnormal fetal growth; amniocentesis; aneuploidy; fetal anatomy; preterm delivery.

MeSH terms

  • Adult
  • Congenital Abnormalities / embryology*
  • Female
  • Fetal Growth Retardation / etiology
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / pathology
  • Fetus / pathology*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Pregnancy Outcome*
  • Retrospective Studies