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EP05.15: Prenatal ultrasound diagnosis of Noonan syndrome 1 case report
Author(s) -
Ying Yuan
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.21200
Subject(s) - medicine , noonan syndrome , prenatal ultrasound , prenatal diagnosis , ultrasound , radiology , pregnancy , fetus , genetics , biology
Pregnant women were 33 years old, and NT0.4cm was measured at 12 weeks of gestation. No abnormalities were observed ultrasound examination in first trimester screenin. With No abnormalities were detected by Chromosomal karyotype and prenatal diagnosis of CMA . 23 weeks of gestational ultrasound examination of fetal cardiovascular, nervous system and other structures showed no abnormalities, only showing that the fetal both eyes Eyeball diameter is 9.5mm that less than the fifth percentile of the normal range, amniotic fluid index of 21cm. Ultrasound examination of 32 weeks of gestation showed no abnormalities in other system structures, and both eyes Eyeball diameter is 13 mm that smaller than the 5th percentile of the normal range and the amniotic fluid index was 25cm. Then the fetal cord blood puncture examination, Molecular genetic testing for the detection of single-gene genetic disease gene families. Conclusion Noonan syndrome was described by Janqueline A Noonan in 1968. Noonan syndrome Prenatal ultrasound diagnosis is difficult than Turner syndrome. This casee shows that the previous eye distance is widened,but the case shows the actual display is that the eyeball diameter is small. Figure 1. 23 weeks,The intraocular distance is in the normal range, and the eyeball diameter is small.AFI21cm.