1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result.

OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36). CONCLUSION: Every prenatal genetic screening test and diagnostic procedure has its benefit and risk. NIPT offers better sensitivity and specificity for trisomies 13, 18, and 21. Even so, for primary population screening, NIPT provides lower detection rate than sequential screening if considering detection of all chromosomal abnormalities. Diagnostic testing should be offered rather than cell-free DNA screening to pregnant women if a fetal structural anomaly is identified on ultrasound examination.

Term delivery of a complete hydatidiform mole with a coexisting living fetus followed by successful treatment of maternal metastatic gestational trophoblastic disease.

OBJECTIVE: A twin pregnancy consisting of a complete hydatidiform mole with a coexisting normal fetus is extremely rare with an incidence of 1/22,000 to 1/100,000. The incidence of preterm delivery is high and few pregnancies reach near term with a viable fetus. CASE REPORT: A 34-year-old woman presented at 20 weeks of gestation with increased levels of serum beta human chorionic gonadotropin (beta-HCG) at 4.74 multiples of the median (310277.7 mIU/mL). Ultrasonography showed a hydatidiform mole together with a normal fetus. Fetal karyotyping revealed 46XY. The serum beta-HCG levels were followed up throughout the remainder of the pregnancy. A male infant weighting 2260 g and the molar tissue were delivered at 37 weeks of gestation. The karyotype of the molar tissue showed 46XX and the histopathological report confirmed our diagnosis. At 4 months postpartum, metastatic gestational trophoblastic disease of the lung was diagnosed in the mother by a computed tomography scan due to increased beta-HCG levels. The patient received three unsuccessful cycles of methotrexate and folinate. Another four cycles of chemotherapy consisting of etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine (EMA-CO) were initiated and the beta-HCG levels returned to normal. There was no evidence of recurrence in the subsequent 5 years of regular follow up. CONCLUSION: A pregnancy with a complete hydatidiform mole and a living cotwin can be a serious threat to the health of both the mother and the fetus. Early diagnosis depends on a combination of detecting an unusually high level of serum beta-HCG and ultrasound examination. We suggest that continuation of the pregnancy may be an acceptable option and that the pregnancy may continue until term if a normal fetal anatomy is assured and maternal complications are under control. Patients require careful postpartum follow up and any recurrent disease should be managed aggressively.

Triplet pregnancy complicated with one hydatidiform mole and preeclampsia in a 46,XY female with gonadal dysgenesis.

OBJECTIVE: We present a case of triplet pregnancy with a complete hydatidiform mole, a condition carrying a significant risk to both mother and fetuses and, therefore, raising an important issue on prenatal care. CASE REPORT: A 36-year-old patient with gonadal dysgenesis and a 46,XY karyotype successfully conceived a triplet pregnancy after oocyte donation and in vitro fertilization. At mid-trimester, the pregnancy was seen harboring a hydatidiform mole along with two other fetuses by ultrasound. Fetal karyotyping of both fetuses revealed normal results. Serum human chorionic gonadotropin levels were followed up throughout the remainder of pregnancy. At 33 weeks of gestation, preeclampsia ensued with worsening of maternal renal function and high blood pressure, so cesarean section was arranged to deliver a set of two surviving twins. Prophylactic bilateral gonadectomy was done at the same time to curtail the possibility of future malignancy development. Upon pathologic examination of the placentae, hydropic chorionic villi with central cistern formation and nonpolar trophoblastic hyperplasia with atypia and necrosis were found, compatible with complete hydatidiform mole. The gonads showed streaks of fibrous tissue, which resembled ovarian stroma and hilus cells, and an unremarkable tube. Maternal serum human chorionic gonadotropin levels declined gradually to normal level at two months after delivery. CONCLUSION: This is the first report of triplet pregnancy complicated with one complete hydatidiform mole and preeclampsia in a 46,XY female with gonadal dysgenesis. Our case demonstrated that prolonged gestation with both surviving fetuses was possible by applying intensive monitoring of the whole pregnancy.