**Ultrasonography and Genetic Analysis in Prenatal Diagnosis** *Fetal Abnormalities Detected in Early Pregnancy* Betty, after becoming pregnant, underwent an ultrasonography at 18 weeks of gestation. The ultrasound results revealed significant fetal abnormalities, specifically a Ventricular Septal Defect (VSD) and tricuspid atresia. **Ultrasound Analysis:** - The left image displays two main structures: the left ventricle (LV) and the right ventricle (RV). There is an indication of a defect in the ventricular septum (VSD), which separates the left and right ventricles. - The right image highlights additional abnormalities such as a hypoplastic right ventricle (RV) and tricuspid atresia. There is an indication of an atrial septal defect (ASD), specifically the ostium primum type, associated with tricuspid atresia. *Further Findings Later in Pregnancy* At 35 weeks of gestation, a subsequent ultrasound suggested additional heart defects and the possibility of flexed extremities. *Genetic Analysis Through Amniocentesis* Amniocentesis and karyotyping were performed on the fetus (referred to as Patient D), which produced the following chromosomal results: **Karyotype Description:** - The image depicts the chromosomes of Patient D, arranged in pairs from 1 to 22, along with the sex chromosomes, X. - The karyotype appears to consist of normal pairs, indicating no apparent chromosomal abnormalities. This case highlights the importance of comprehensive prenatal testing, combining ultrasonography with genetic analysis for early detection and management of fetal conditions. **The karyotype of the fetus (Patient D), written in Human Cytogenetic Nomenclature is:** _____________________________________________________________ The absence of fetal movement during ultrasonography at 37 weeks led to an immediate caesarean birth. At the time of delivery, the Patient D was found to have decreased neurologic activity and respiratory depression. The patient D's clinical condition worsened, and she died at 5 days of age. **What is the most likely reason that Betty is phenotypically normal:** _____________________________________________________________ _____________________________________________________________ _____________________________________________________________ _____________________________________________________________ _____________________________________________________________ **Why does the fetus (Patient D) have a phenotype?** _____________________________________________________________ _____________________________________________________________ _____________________________________________________________ _____________________________________________________________ _____________________________________________________________