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Partial hydatidiform mole

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PHM is the result of triploidy, but is present in only a subset of diandric triploid pregnancies.137 PHMs show some phenotypic overlap with CHMs on ultrasound assessment, but pathologically, exhibit a range of villi from normal to cystic villi with focal trophoblastic hyperplasia (Figure 4.1c, d).138 Staining for p57 is preserved (normal). Although triploidy most commonly ends in miscarriage in the first trimester, PHM may be detected in a second‐trimester ultrasound where it presents as cystic placenta in association with an abnormally developed fetus, and may be associated with abnormal serum analytes (high hCG and α‐fetoprotein)139, 140 and PE.141 Diagnosis may be confirmed with chromosome testing by CVS or amniocentesis.

Genetic Disorders and the Fetus

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