A 22-year-old primigravida notes absent fetal movement for 2 days. The fetus is delivered stillborn at 19 weeks’ gestation. The macerated fetus shows marked hydrops fetalis and a large posterior cystic hygroma of the neck. At autopsy, internal anomalies include aortic coarctation and a horseshoe kidney. Which of the following karyotypes is most likely to be present in cells obtained from this fetus?
First, the fetus had absent fetal movement, stillbirth at 19 weeks, hydrops fetalis, posterior cystic hygroma, aortic coarctation, and a horseshoe kidney. These are all significant clues.
Hydrops fetalis is a condition where there's abnormal accumulation of fluid in the fetal tissues. It can be caused by various factors, including genetic abnormalities. Posterior cystic hygroma is a type of lymphatic malformation, often associated with chromosomal abnormalities. The presence of aortic coarctation and horseshoe kidney points towards a syndrome that includes cardiovascular and renal anomalies.
I remember that Turner syndrome (45,X) is associated with lymphatic issues, including cystic hygroma, and can also have coarctation of the aorta and renal abnormalities like horseshoe kidney. Turner syndrome is also one of the more common chromosomal abnormalities leading to hydrops fetalis. The other possibilities might include trisomies like 18 or 21, but those usually have different associated features. For example, trisomy 18 (Edwards syndrome) might have more limb abnormalities and a different facial appearance. Trisomy 21 (Down syndrome) can have heart defects but not typically coarctation as a primary issue. Klinefelter syndrome (47,XXY) is another possibility but is more related to male infertility and less likely to present with hydrops or cystic hygroma.
So putting it all together, the most likely karyotype here is Turner syndrome (45,X). The key features like cystic hygroma, coarctation of the aorta, and horseshoe kidney align with Turner's. The hydrops is a common complication in Turner syndrome, especially in the second trimester. The other options are less likely given the specific combination of anomalies mentioned.
**Core Concept**
This question tests recognition of chromosomal abnormalities associated with fetal hydrops, cystic hygroma, and congenital malformations. Turner syndrome (45,X) is the most common karyotype linked to posterior cystic hygroma, aortic coarctation, and renal anomalies.
**Why the Correct Answer is Right**
Turner syndrome (45,X) causes lymphatic system defects, leading to posterior cystic hygroma and hydrops fetalis. The aortic coarctation and horseshoe kidney are classic cardiovascular and renal anomalies in Turner syndrome. These findings align with the fetus's autopsy results, making 45,X the most likely karyotype.
**Why Each Wrong Option is Incorrect**
**Option A:** Trisomy 18 (Edwards syndrome) presents with microcephaly, clenched fists, and congenital heart defects but not typically cystic hygroma or coarctation.
**Option B:** Trisomy 21 (Down syndrome) includes cardiac defects (e.g., AVSD) and facial dysmorphia but lacks posterior cystic hygroma as a hallmark.
**Option D:** Klinefelter syndrome (47,