Prenatal diagnosis of trisomy 9.

We present a foetus affected by trisomy 9, a rare chromosomal disorder, which was diagnosed in a low-risk patient during the first trimester of pregnancy. The finding of multiple structural foetal anomalies at the first trimester screening prompted chorionic villus sampling. Evaluation of the quantitative fluorescent polymerase chain reaction was normal, but the final karyotype result revealed a diagnosis of trisomy 9. First trimester screening for detection of foetal anomalies is highly effective. Although rapid molecular methods are available for prenatal diagnosis of common autosomal and sex chromosome aneuploidies, it is essential to obtain a full karyotype in order to exclude the less commonly encountered chromosomal abnormalities.

Recurrent ectopic pregnancy following ipsilateral partial salpingectomy.

An unusual case of a second ipsilateral ectopic pregnancy following a partial (proximal) salpingectomy for ectopic gestation is presented in a 32-year-old woman with a history of secondary infertility. This occurred in the distal remnant of the left fallopian tube. It is postulated that the pregnancy was conceived following migration of spermatozoa or the fertilised egg from the endometrial cavity to the distal remnant of the left fallopian tube or by passage of spermatozoa through the intact right fallopian tube and the pouch of Douglas. Consequent to the maintenance of a high index of suspicion of ectopic pregnancy, there was early diagnosis and expedient surgical intervention on both occasions.

Outcomes of twin-twin transfusion syndrome managed by a specialised twin clinic.

INTRODUCTION: To determine the perinatal outcomes of monochorionic (MC) pregnancies complicated by the twin-twin transfusion syndrome (TTTS) that were managed in a specialised twin clinic at the KK Women's and Children's Hospital. METHODS: This was a 21-month retrospective study carried out from January 2002 to September 2003. MC pregnancies were followed up every two to three weeks with regular ultrasonographical and Doppler studies from the time monochorionicity was diagnosed. Standard criteria used for the diagnosis of TTTS are the presence of oligohydramnios/polyhydramnios sequence on ultrasonography. The severity of TTTS was staged according to Quintero's system. RESULTS: There were 77 sets of MC pregnancies in our database. 11 sets were diagnosed with TTTS, hence the incidence was 14.3 percent. The median gestation at diagnosis of TTTS was 17.4 (16.4 to 26) weeks. At first presentation, five were stage I, two were stage II, three were stage III and one was stage IV. Three pregnancies were terminated in the second trimester and one was lost to follow-up. Of the other seven, two were treated expectantly or delivered, four with amnioreduction/ septostomy and one with cord occlusion. The median gestation at delivery is 30.8 (26.7 to 36.9) weeks. Four (57 percent) were delivered before 32 weeks and these same four pairs required neonatal intensive care. The overall perinatal survival was 78 percent (11/14) and the median diagnosis to delivery interval was 10.7 (3.1 to 17.5) weeks. CONCLUSION: TTTS occurs in a significant proportion of MC pregnancies. The perinatal survival outcome of this group of patients managed in this clinic is comparable to that of other good centres.