Antenatal diagnosis of achondroplasia

Antenatal diagnosis of achondroplasia

We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skelet...

Antenatal diagnosis of seckel syndrome.

Evaluation of the fetus in a 29-year-old primigravida showed severe intrauterine growth restriction with complex brain malformation with fetal dysmorphology. The family and past obstetric history is unremarkable, with nonconsanguineous marriage. Her previous scans included one at 12 weeks for nuchal translucency, and another an anomaly scan at 19 weeks, which both were unremarkable. In late sec...

Antenatal diagnosis of heart disease.

Antenatal Diagnosis of Alobar Holoprosencephaly

A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a v...

Antenatal diagnosis of genetic disease.

During the past decade, a vast methodology has been developed for the study and antenatal diagnosis of genetic disorders. The cytogenetic antenatal diagnosis of chromosome abnormalities is possible through the application of new methods for chromosome visualization in cultured amniotic fluid cells. A variety of inborn errors of metabolism may be diagnosed prenatally by the study of amniotic flu...