P16.16: Fetal gender determination at 12-14 weeks of pregnancy using the “axial view”

Abstract

Diastrophic dysplasia (DTD) is characterized by limb shortening, spinal deformities, joint contractures, normal-sized skull and typical hitchhiker thumbs. It is autosomally recessive disease can be prenatally diagnosed by ultrasound and confirmed by molecular genetic testing. Most of the affected individuals have significant physical limitations and require surgical corrections. Neonates may experience respiratory insufficiency with a need of mechanical ventilation. We present a case of a twin pregnancy with one affected fetus with diastrophic dysplasia which was prenatally diagnosed in the 1 st trimester. 32 year old II gravida I para referred for 1 st trimester screening. Her previous pregnancy was terminated at 22wks due to diastrophic dysplasia of the fetus diagnosed during 2 nd trimester ultrasound screening. This pregnancy was after IVF, dizygotic dichorionic twins. 1 st trimester ultrasound (at 12wks+4 days) showed no abnormalities of the fetus A. Fetus B had symmetric upper limb shortening, limited motion range, typical hitchhiker thumbs were recognized. Diagnose of DTD of fetus B was confirmed by chorionic villus sampling (CVS), fetus A had a normal karyotype. Patient decided for a selective fetocide of the affected fetus. Fetocide of the fetus with DTD was performed at 13wks+3days. Patient went on with her pregnancy which was uncomplicated afterwards. She delivered at term a healthy neonate with no signs of skeletal dysplasia. Diagnosis of diastrophic dysplasia can be made in the 1 st trimester especially in case of a previous family history of a skeletal dysplasia. Typical hitchhiker thumbs help to distinguish between other types of similar conditions. Supporting information can be found in the online version of this abstract. P16.15 Very low level of PAPP-A associated with normal nuchal translucency in fetus with type II triploidy D. AlbuObstetrics and Gynecology, UMF Carol Davila, Filantropia Hospital, Bucharest, Romania Triploidy has been estimated to occur in 1-2% of all recognized conceptions as a result of a complete extra set of chromosome. Most triploid fetuses are lost in miscarriage. We present the case of 29 years woman, primigravida, who presented at first trimester screening at 12 weeks, normal nuchal translucency and very low level of PAPP-A (0.02MoM) and very low free βHCG (0.17MoM). The software for integrated test (age, NT and biochemical screening) in first trimester, calculated a risk of 1/59 for Down syndrome and 1/65 for trisomy 18. First trimester ultrasound was normal, included the measurement of nasal bone, ductus arantius flow and tricuspid flow. The pregnancy was obtained after treatment for infertility, so at that moment patient refused chorionic villus sampling. We saw again patient at 15 weeks of pregnancy when with remarked: severe, early -onset asymmetric IUGR, (affecting the skeleton more than the head), a small placenta, oligohydramnios, abnormal umbilical artery Doppler waveform showing a highresistance pattern, so we thought about type II triploidy, where extra c...