Abnormal Fetal Profile at First-trimester Ultrasound Scan Complicated by Severe Polyhydramnios at the Second Half of Pregnancy

摘要

A 37-year-old pregnant woman was referred to our hospital at 9 weeks of gestation with a history of previous medical termination of pregnancy in the context of prenatal diagnosis of trisomy 21. In the third pregnancy, first-trimester ultrasound (US) revealed a fetus with a gestational age of 12 weeks and 6 days with a suspicion for fetal micrognathia but no other morphologic abnormalities [Figures 1 and 2]. The first-trimester combined screening had reduced the risk for aneuploidies. The performance of invasive testing was offered, but the couple refused. At the mid-trimester US scan, performed at 20 weeks and 5 days of gestation, the fetus had normal amniotic fluid index and adequate biometric parameters. Fetal facial profile was abnormal, suggesting mandibular hypoplasia and glossoptosis [Figures 3 and 4]. Morphology of the upper lip was normal [Figure 5]. There were no other sonographic anomalies identified. Screening for gestational diabetes was negative, and there was no evidence for maternal TORCH (Toxoplasmosis, Other [syphilis, varicella-zoster, parvo virus B19], Rubella, Cytomegalovirus, and Herpes infections) seroconversion. Detailed fetal echocardiography was normal.