Which Congenital malformation of the fetus can be diagnosed in first trimester by ultrasound?
**Core Concept**
Anencephaly is a severe congenital anomaly characterized by the absence of a significant portion of the brain, skull, and scalp. It occurs due to the failure of the neural tube to close during embryonic development. Anencephaly is a major indicator of neural tube defects (NTDs).
**Why the Correct Answer is Right**
Anencephaly can be accurately diagnosed in the first trimester through ultrasound examination. During this period, the neural tube should be closed, and any failure to do so can be identified. The absence of the cranial vault and cerebral hemispheres in the first trimester is indicative of anencephaly. The presence of a small, open cranial cavity, and the absence of the normal brain structures are key features that suggest anencephaly. The ultrasound findings include the absence of the cranial vault, a small open cranial cavity, and the presence of a thin membrane covering the open cranial cavity.
**Why Each Wrong Option is Incorrect**
**Option B:** Iniencephaly is a rare congenital malformation characterized by a significant posterior displacement of the foramen magnum and a prominent occipital bone. While it is a congenital anomaly, it is not typically diagnosed in the first trimester through ultrasound.
**Option C:** Microcephaly refers to a condition where the fetal head circumference is smaller than expected. However, microcephaly is not typically diagnosed in the first trimester through ultrasound, as the normal range for fetal head size can vary during this period.
**Option D:** Holoprosencephaly is a congenital anomaly characterized by the failure of the forebrain to divide properly. While it can be diagnosed during fetal development, it is not typically identified in the first trimester through ultrasound.
**Clinical Pearl / High-Yield Fact**
Remember that anencephaly is a significant indicator of neural tube defects (NTDs), which can also be associated with spina bifida and other congenital anomalies. Early diagnosis of anencephaly through ultrasound is critical for counseling and planning of pregnancy.
**Correct Answer:**
β Correct Answer: A. Anencephaly