Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).

Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X-linked monogenic condition. Multiple studies have reported on a wide and fragmented set of reasons to accept or decline RGCS. Only a few studies have been performed to assess the uptake of RGCS. Nonpregnant women visiting their gynecologist were invited to complete a questionnaire assessing perceived susceptibility, the acceptability of offering RGCS, attitudes, the intention to participate in RGCS, reasons to accept or decline RGCS, and sociodemographic characteristics. Women who showed the intention to have RGCS were asked to consider a free RGCS offer. Most women (n = 127) were between 25 and 34 years old (60%), in a relationship (91%), and wanted to have children (65%). Study participants had positive attitudes towards RGCS and the intention to consider RGCS in the future. Reasons to accept RGCS were being able to share genetic information with children or relatives (n = 104/127, 82%), to prevent the birth of a child affected with a hereditary condition (n = 103/127, 81%), and/or to know the chance of conceiving a child with a hereditary condition (n = 102/127, 80%). Reasons for declining RGCS were the possible concerns that could arise when receiving test results (n = 27/127, 21%), having no family history of hereditary disorders (n = 19/127, 15%), and not wanting to take action based on test results (n = 13/127, 10%). Among test intenders that met the inclusion criteria, 53% decided to participate in RGCS together with their male reproductive partner. More in-depth research on the decision-making process behind the choice to accept or decline an RGCS offer would be highly valuable to make sure couples are making informed reproductive choices.

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.

Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.

Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice.

OBJECTIVES: To explore informed choice in reproductive genetic carrier screening (RGCS). METHODS: Women visiting a gynaecologist practice in Flanders (Belgium) were asked to consider participation in a study where RGCS was offered for free to them and their male partner. A modified Multidimensional Measure of Informed Choice was used to determine whether couples who opted for RGCS made an informed choice. In addition, we assessed risk perception, feelings towards RGCS, anxiety and decisional conflict. RESULTS: Most participants (82 %, n = 63/77) made an informed choice with regard to RGCS according to our modified MMIC. Thirteen participants made an uninformed choice due to insufficient knowledge and one participant because of insufficient knowledge and value-inconsistency. Anxiety scores were elevated for three participants. Two participants presented with decisional conflict. CONCLUSION: Our results show high rates of informed choice among non-pregnant couples who were offered RGCS in a research study and received up to 30 min of pre-test counseling. PRACTICE IMPLICATIONS: Limited resources outside a research context may impact informed choice. Pre-test counselling initiatives for RGCS should ideally be organized in such a way that information can be provided at multiple time points to avoid information overload and to allow for a reflection period.

Fetal lung-to-head ratio in the prediction of survival in severe left-sided diaphragmatic hernia treated by fetal endoscopic tracheal occlusion (FETO).

OBJECTIVE: The objective of the study was to investigate the value of fetal lung area to head circumference ratio in the prediction of the postnatal outcome in left-sided congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion. STUDY DESIGN: The lung area to head circumference ratio was measured before fetoscopic endoluminal tracheal occlusion in 28 fetuses with congenital diaphragmatic hernia at 25 to 29 weeks. Regression analysis was used to investigate the effect on survival of lung area to head circumference ratio, gestation at fetoscopic endoluminal tracheal occlusion, gestation at delivery, preterm amniorrhexis following fetoscopic endoluminal tracheal occlusion, and prenatal removal of the balloon. RESULTS: The median lung area to head circumference ratio prior to fetoscopic endoluminal tracheal occlusion was 0.7 (range 0.5 to 0.9). The median gestation at delivery was 34 (range 27 to 39) weeks, and there were 16 survivors (57%). Only lung area to head circumference ratio provided significant prediction of survival, which increased from 17% for lung area to head circumference ratio of 0.4 to 0.5 to 62% for lung area to head circumference ratio of 0.6 to 0.7 and 78% for lung area to head circumference ratio of 0.8 to 0.9. CONCLUSION: In congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion, postnatal survival can be predicted by the lung area to head circumference ratio measured prior to the procedure.

Intertwin anastomoses in monochorionic placentas after fetoscopic laser coagulation for twin-to-twin transfusion syndrome: is there more than meets the eye?

OBJECTIVE: This study was undertaken to detect missed anastomoses on the chorionic surface as well as hidden connections in the depth of the cotyledons in placentas after laser coagulation for twin-to-twin transfusion syndrome (TTTS) and to correlate these findings to clinical outcome. STUDY DESIGN: All cord vessels were injected with dyed barium sulphate. A digital photograph of the chorionic surface angioarchitecture and single-shot digital X-ray (Rx) angiograms were made. The presence and diameter of any missed anastomoses on the chorionic surface and of any hidden angiographic connections were determined. RESULTS: Fifty placentas were analyzed, 7 of double intrauterine fetal death (IUFD) and 43 of double survivors. In 9 of 43 (21%) cases with double survival and in all 7 cases of double IUFD, missed anastomoses were identified that should have been ablated by laser coagulation (P < .001). There appeared to be a correlation between the type and diameter of missed anastomoses on the chorionic surface and the clinical outcome. Placentas with missed large arteriovenous/venoarterial anastomoses (AV/VA) (N = 8) were from cases with recurrent TTTS or double IUFD (unless compensated by a large arterioarterial anastomosis [AA]). Next, missed small AV/VA (N = 4) without AA resulted in isolated (ie, without TTTS) discordant hemoglobin levels requiring intrauterine transfusion. Finally, when there were no missed anastomoses (N = 34), TTTS had resolved in all cases and outcome was good, although 1 case had discordant hemoglobin values treated with a single intrauterine transfusion and 4 others had discordant hemoglobin at birth. On Rx angiography, potential hidden connections were present, all but 1 case. CONCLUSION: Coagulation of all anastomoses visible on the chorionic surface seems adequate to treat TTTS. However, hidden connections in the depth of the cotyledon could not be excluded and may be involved in lesser degrees of intertwin transfusion.

Fetal intervention for congenital diaphragmatic hernia: the European experience.

Fetuses with CDH presenting with liver herniation and a lung area-to-head circumference ratio of less than 1.0 have a high chance for neonatal death due to pulmonary hypoplasia. Fetal tracheal occlusion (TO) prevents egress of lung liquid, which triggers lung growth. In animal experiments, we were able to develop a minimally invasive technique for Fetoscopic Endoluminal Tracheal Occlusion (FETO) with a detachable balloon. In 2001, we demonstrated feasibility of FETO by percutaneous access in fetuses with severe CDH. In a retrospective multicenter review, we obtained LHR measurements and position of the liver in 134 cases of isolated left-sided CDH between 24 and 28 weeks. Eleven patients (8%) with LHR < 1.4 opted for termination. Overall survival of liveborn babies was 47% (58/123). LHR and position of the liver correlated both to survival. Combination of both variables predicted neonatal outcome better: liver up and LHR < 1.0 predicted a survival of 9%. When LHR < 0.6, there were no survivors irrespective of liver position. We could successfully perform endotracheal placement of the balloon in 20 cases at a median gestational age of 26 weeks. The mean duration of the operation was 22 (range 5-54) minutes. In 11 (55%) of these patients, there was postoperative prelabor (ie, <37 weeks) amniorrhexis. Membranes ruptured before 32 weeks in 35%, with a decreasing trend as experience increased. Ultrasound scans after FETO demonstrated an increase in the echogenicity of the lungs within 48 hours and improvement in the LHR from a median 0.7 (range 0.4-0.9) before FETO to 1.8 (range 1.1-2.9) within 2 weeks after surgery. The median gestation at delivery was 33.2 (range 27-38) weeks, and in 14 (70%) this occurred after 32 weeks. Surgical repair of the diaphragmatic hernia could be done in 13 babies, and in all but 1 the defect was extensive and required the insertion of a patch. Survival to discharge was 50%. These 10 long-term surviving babies are now aged 7 to 26 (median 19) months without known neurologic morbidity. Eight babies died in the neonatal period due to complications of the underlying disease. Two nonsurvivors died from other causes but with appropriately developed lungs. Improved survival coincided with increasing experience, in turn related to reduced incidence of postoperative amniorrhexis, later delivery, and a change in the policy on the timing of removal of the balloon from intrapartum to the prenatal period. Survival in eligible contemporary controls was 1/12 (8%). The presence of liver herniation and a low lung-to-head ratio (LHR <1.0) is a good predictor of poor prognosis at different tertiary centers around the world. Severe CDH may be successfully treated with FETO, which is minimally invasive and may improve postnatal survival.

Severe acute maternal morbidity and mortality in the Pretoria Academic Complex: changing patterns over 4 years.

OBJECTIVE: To compare the severe acute maternal morbidity (SAMM) and maternal mortality in the Pretoria Academic Complex for the year 2000 and the years 1997-1999. STUDY DESIGN: SAMM and maternal mortality was identified at daily audit meetings. The audit was performed from 1 January 2000 to 31 December 2000 and compared with the data obtained from the original 2-year audit [Br J Obstet Gynecol 105 (1998) 985]. The mortality index (MI) was defined as Maternal Death (MD) divided by SAMM and MD. This index is used to assess the standard of care in specific maternal conditions. Data was assessed using the Chi square test. RESULTS: SAMM and maternal mortality has significantly declined in all patients with a reduction in abortion complications as the main contributor (268/100,000 births versus 94/100,000 births P<0.006). There is a non-significant trend to increased morbidity and mortality in hypertension, hemorrhage and infections. CONCLUSIONS: The standard of care was constant. An audit of SAMM and maternal mortality allows for early detection of trends and early changes in health strategies.

Fetofetal transfusion syndrome in triplet pregnancies: outcome after endoscopic laser surgery.

OBJECTIVE: The purpose of this study was to determine the outcome of fetofetal transfusion syndrome in triplet pregnancies after treatment with endoscopic laser ablation of communicating placental vessels. STUDY DESIGN: Cases of severe fetofetal transfusion syndrome that occur in triplet pregnancies and that are treated with endoscopic laser ablation of placental anastomosis were identified from a prospectively collected fetal medicine database. Chorionicity was determined by sonography and classified as dichorionic or monochorionic. Perinatal outcome was obtained in all cases, and long-term follow-up was obtained in all pregnancies that resulted in at least 1 survivor. RESULTS: During a 6-year period, 10 cases of severe fetofetal transfusion syndrome that were treated with endoscopic laser ablation were identified, of which 7 cases were dichorionic and 3 cases were monochorionic. At least 1 fetus survived in all 7 dichorionic pregnancies and in 2 of the 3 monochorionic pregnancies. In the dichorionic pregnancies, 14 of 21 fetuses (66.7%) survived, but in the monochorionic pregnancies only 2 of 9 fetuses (22.2%) survived. CONCLUSION: Endoscopic laser ablation is feasible in triplet pregnancies that are complicated by severe fetofetal transfusion syndrome. The treatment appears to be associated with improved perinatal outcome in dichorionic, but not in monochorionic, triplets, probably because of the technical inability in achieving ablation of all the communicating vessels in monochorionic triplets.