Primary maternal cytomegalovirus infections: accuracy of fetal ultrasound for predicting sequelae in offspring.

BACKGROUND: Cytomegalovirus infection is the most common perinatal viral infection that can lead to severe long-term medical conditions. Antenatal identification of maternal cytomegalovirus infections with proven fetal transmission and potential postnatal clinical sequelae remains a major challenge in perinatology. There is a need to improve the prenatal counseling offered to patients and guide future clinical management decisions in cases of proven primary cytomegalovirus infection. OBJECTIVE: We sought to evaluate the accuracy of fetal ultrasound for predicting sequelae in fetuses infected with congenital cytomegalovirus after maternal primary infection. STUDY DESIGN: We conducted a prospective observational study from 1996 through 2012 in pregnant women with serological evidence of primary cytomegalovirus infection and proven vertical transmission to the fetus, based on viral load in the amniotic fluid. Fetal ultrasound was performed in all patients. Pregnancy termination was presented as an option for infected fetuses. Hearing and neurological clinical assessments were performed for all neonates with cytomegalovirus-positive urine samples. RESULTS: A total of 67 patients (69 fetuses) with proven vertical transmission were included in this study, including 64 singleton and 3 twin pregnancies. Eight fetuses were lost to follow-up. Of the remaining 61 fetuses, termination of the pregnancy was performed for 26, including 11 with fetal ultrasound anomalies. Autopsy provided histological evidence of fetal cytomegalovirus infection in all cases. In the 15 terminated fetuses without ultrasound anomalies, histological evidence of damage caused by fetal infection was detected in 13 cases. Among the 35 live-born infants, 12 had fetal ultrasound anomalies suggestive of congenital infection. Of these 12 infants, 6 had normal clinical evaluations, whereas 6 presented with either hearing and/or neurological anomalies, classified as severe in 4 cases. Among the 23 live-born infants with normal prenatal ultrasound, 5 developed hearing impairments and 1 showed mild neurological developmental delay. CONCLUSION: Fetal ultrasound anomalies were detected in 37.7% of pregnant women with primary cytomegalovirus infection acquired in early pregnancy and proven fetal infection, and were confirmed by autopsy or postnatal clinical evaluation in 73.9%. Autopsy or postnatal clinical evaluation also detected cytomegalovirus-related anomalies in 55% of infants with normal fetal ultrasound evaluations.

Pregnancy outcome in carriers of Robertsonian translocations.

Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging. We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies. We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When considering all pregnancies involving carriers, 52.7% of those to female carriers and 61.8% of those to male carriers led to the birth of a healthy child. Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk. We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult. The reason for ascertainment of the translocation should be taken into account when counseling these couples. The possibility of preimplantation genetic diagnosis should also be discussed with the couples.

Comparison of transfers to Fallopian tubes or uterus after ICSI.

The aim of this study was to compare the implantation rate of tubal-replaced microinjected oocytes (MIFT) versus conventional day 2 intrauterine embryo transfer in patients undergoing intracytoplasmic sperm injection (ICSI). Sixty-three patients in need of ICSI, between 18 and 37 years of age with normal menstrual cycles and fewer than four previous ICSI attempts, were randomized between April 1999 and December 2001. In the MIFT group, up to three micro-injected oocytes were transferred laparoscopically 4 h after microinjection. In the ICSI-embryo transfer group, up to three cleaving embryos were replaced into the uterine cavity 48 h after insemination. Fifty-nine patients reached the stage of oocyte retrieval; 31 patients had a day 2 embryo transfer and 28 patients had MIFT. The ongoing clinical pregnancy and implantation rate (i.e. the total number of gestational sacs with fetal heartbeat divided by the total number of transferred embryos or micro-injected oocytes) was 35 and 24% in the ICSI-embryo transfer group and 29 and 11% in the MIFT group respectively. In conclusion, this study shows a significant decrease in implantation rate in the MIFT group (P < 0.05). In this group of patients there seems to be no advantage to tubal replacement of micro-injected oocytes.