Partial hydatidiform mole associated with live births is a rare condition. There are not enough cases in the literature to allow the assessment of comprehensive risks to be made and upon which management policies can be based. Several clinical dilemmas arise following diagnosis of a viable pregnancy associated with molar tissue. We present two cases demonstrating the problems and suggest management based on outcome and a review of the literature.

A retrospective study was performed to determine the detection rate of trisomy 21 in two British hospitals using a combination of: (1) second trimester serum screening with maternal age, alphaFP and hCG; (2) karyotyping for raised maternal age and high background risk of aneuploidy; and (3) second trimester fetal anomaly ultrasonography at 18-22 week gestation. 36-410 women with a median age of 27 years were studied. Trisomy 21 detected by the combination of methods in both hospitals was compared with the actual number of pregnancies affected by trisomy 21, to determine the detection rate. Serum screening as the backbone of the service detected 31/48 (65%) trisomy 21 affected pregnancies. Karyotyping for maternal age and previous aneuploidy detected eight trisomy 21 affected pregnancies, and second trimester ultrasound a further six, giving a total detection rate of 45/56 (80%). Thus, the detection rate of trisomy 21 in our population is 65% by serum screening alone. This is similar to demonstration projects, but the addition of second trimester ultrasonography and karyotyping for maternal age and prior risk, contributes further to improve the overall sensitivity to 80%. The invasive procedure rate was 4.8% of all women.

Twenty-nine cases of spontaneous abortion following first-trimester chorionic villus sampling (CVS) were reviewed out of a series of 722 patients. Of the 29 cases, there were only four abnormal CVS results. Pathological examination was performed in 79 per cent of cases, and this did not identify any characteristic pathological feature associated with spontaneous abortion after CVS. There was no obvious difference in the pathological features following the transabdominal (TA) or the transcervical (TC) methods. The majority of miscarriages occurred within 4 weeks of the procedure, but 38 per cent of cases aborted between 7 and 14 weeks after CVS. The TC method was used in 22 patients; the TA in 6; and both methods in 1 patient. The TA method was associated with a significantly lower fetal loss rate than the TC method (TA 2 per cent, TC 9 per cent, p less than 0.001).

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