Prenatal diagnosis of Apert syndrome by sonography / 中华医学超声杂志（电子版）

ABSTRACT

Objective To discuss the prenatal ultrasound manifestations of Apert syndrome. Methods The prenatal ultrasound features of 4 fetuses identified as Apert syndrome after detailed antenatal ultrasound examinations between January, 2010 to Februry, 2014 in our hospital were analyzed. The ultrasound images and postnatal outcome or autopsy were compared to analysis the sonographic features of Apert syndrome in prenatal. Results The prenatal ultrasound characteristics and pregnant outcome of the 4 fetuses were showed as followings:(1) Skull deformity:4 fetuses were all appeared as acrocephaly, coronal suture premature close and frontal protrusion, while 3 cases (case 1-3) had“clover leaf skull deformity”features. (2) Midfacial malformation deformity:3 cases (case 1-3) were all with hypertelorism and mid-sagittal facial proifle abnormal and only 1 case (case 2) had nose hypoplasia. (3) Limbs abnormal:4 cases were all appeared as bilateral symmetry syndactyly of hands and 1 case (case 2) was diagnosed as bilateral symmetry syndactyly of feet. (4) Associated abnormality:persistent right umbilical vein in 1 case (case1), thoracic spine stenosis in 1 case (case 2), hyperechogenic renal parenchyma in 1 case (case 3) and left-diaphragmatic hernia in 1 case (case 4). (5) The pregnant outcome:3 cases underwent pregnancy termination and 1 case was labored at term. The 3 cases (case1-3) were diagnosed as bilateral symmetry syndactyly of feet after induced labor. The cleft palate and bilateral symmetry syndactyly of feet were misdiagnosed in the full-time infant (case 3), who was died two days after birth. Conclusions The Apert syndrome is a rare syndrome. It generally has typical characteristic of prenatal ultrasound, such as coronal suture premature close, acrocephaly, mid-sagittal facial profile abnormal and bilateral symmetry syndactyly of hands and feet. Prenatal diagnosis of Apert syndrome can play an important role in genetic counseling and postnatal treatment.