Mehmet Nuri Konya1, Muhsin Elmas2, Çiğdem Özdemir3

1Department of Orthopedics and Traumatology, Medical Faculty of Afyon Kocatepe University, Afyon, Turkey
2Department of Medical Genetics, Medical Faculty of Afyon Kocatepe University, Afyon, Turkey
3Department of Pathology, Medical Faculty of Afyon Kocatepe University, Afyon, Turkey

Keywords: Embryonic and fetal development; fetal death; fetal movement; genetic diseases; inborn.


Objectives: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series.
Patients and methods: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities. Skin biopsies were performed for genetic evaluation. Radiographic, pathologic and genetic findings were classified.
Results: Except one spontaneous abortus, all cases were applied medical abortus (94.1%). Genetic diagnosis could not be established in seven cases, whereas genetic disorders were identified in 13 cases: two trisomy 13, two trisomy 18, one (triploidi) 69,XXY, two arthrogryposis multiplex congenita, one osteogenesis imperfecta, one lethal multiple pterygium, one Saldino-Noonan syndrome, one teratogenic drug effect, one perinatal lethal hypophosphatasia, and one Beckwith- Wiedemann syndrome. Decreased fetal movement was one of the most frequently observed findings. Consanguineous marriage, oligohydramnios, drug addiction of the mother, teratogenic exposure, and other systemic abnormalities were risk factors.
Conclusion: Skeletal dysplasias are rare diseases. Clinicians should be careful for skeletal abnormalities in perinatal period follow-ups.