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- ETT:
- endotracheal tube
- EXIT:
- ex utero intrapartum treatment
- POPS:
- procedure on placental support
Case Presentation
A 36-year-old gravida 3, para 2-0-0-2 pregnant woman was referred to our fetal care center at 20 5/7 weeks’ gestation because of fetal micrognathia, lagging femur length, and a single umbilical artery. Her pertinent medical and surgical histories included asthma and a prior cesarean section. The pregnancy was the product of in vitro fertilization. Preimplantation genetic screening demonstrated an embryo with a normal karyotype. Her medications included fluticasone propionate/salmeterol, montelukast, lansoprazole, and prenatal vitamins. Family history revealed 2 paternal female first cousins once removed with Smith-Lemli-Opitz syndrome and seizure disorder related to sodium channelopathy. Her standard prenatal screening results were unremarkable.
Evaluation at our fetal care center included the following:
Fetal echocardiography: Normal cardiac anatomy and function.
Fetal magnetic resonance imaging (MRI; Fig 1): Normal brain anatomy with normally shaped calvarium. Head circumference lagging 2 weeks behind stated gestational age. Glossoptosis with narrowing of the nasopharyngeal and oropharyngeal airway without cleft palate. The philtrum appeared elongated. Micrognathia was noted, with a jaw index of 14.3 (calculated by measuring the anteroposterior mandibular diameter divided by the biparietal diameter and multiplied by 100; a jaw index <23 is predictive of clinically significant micrognathia). The stomach was mildly small throughout the examination, likely secondary to impaired fetal swallowing. Amniotic fluid was subjectively increased.
Transabdominal ultrasonography: Micrognathia with mandibular retrognathia; jaw index 17 (note: a discrepancy can occur in jaw index measurement with MRI vs ultrasonography); single umbilical artery. Fetal biometry was notable for a lagging femur length (4th percentile) and head circumference (<3rd percentile). Amniotic fluid was subjectively increased.
Fetal magnetic resonance imaging scan obtained at 20 weeks’ gestation. A. The abnormal facial profile with severe micrognathia. B. Facial profile; white arrow indicates glossoptosis.
Expert Opinion
The conglomeration of these fetal findings is consistent with a diagnosis of Pierre Robin sequence. Pierre Robin sequence occurs …
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