医学
羊水过多
胎儿
产科
产前诊断
怀孕
妊娠期
遗传学
生物
作者
Stefanie Riddle,Foong‐Yen Lim,Michael J. Rutter,Howard M. Saal,Paul S. Kingma
出处
期刊:Neoreviews
[American Academy of Pediatrics]
日期:2021-01-01
卷期号:22 (1): e73-e77
被引量:2
摘要
* Abbreviations:
ETT: : endotracheal tube
EXIT: : ex utero intrapartum treatment
POPS: : procedure on placental support
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:
Figure 1.
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.
The conglomeration of these fetal findings is consistent with a diagnosis of Pierre Robin sequence. Pierre Robin sequence occurs …
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