Perinatal outcomes between immediate vs deferred selective termination in dichorionic twin pregnancies with fetal congenital anomalies: a French multicenter study.

BACKGROUND: Because selective termination for discordant dichorionic twin anomalies carries a risk of pregnancy loss, deferring the procedure until the third trimester can be considered in settings where it is legal. OBJECTIVE: To determine whether perinatal outcomes were more favorable following deferred rather than immediate selective termination. STUDY DESIGN: A French multicenter retrospective study from 2012 to 2023 on dichorionic twin pregnancies with selective termination for fetal conditions, which were diagnosed before 24 weeks gestation. Pregnancies with additional risk factors for late miscarriage were excluded. We defined 2 groups according to the intention to perform selective termination within 2 weeks after the diagnosis of the severe fetal anomaly was established (immediate selective termination) or to wait until the third trimester (deferred selective termination). The primary outcome was perinatal survival at 28 days of life. Secondary outcomes were pregnancy losses before 24 weeks gestation and preterm delivery. RESULTS: Of 390 pregnancies, 258 were in the immediate selective termination group and 132 in the deferred selective termination group. Baseline characteristics were similar in both groups. Overall survival of the healthy co-twin was 93.8% (242/258) in the immediate selective termination group vs 100% (132/132) in the deferred selective termination group (P<.01). Preterm birth <37 weeks gestation was lower in the immediate than in the deferred selective termination group (66.7% vs 20.2%; P<.01); preterm birth <28 weeks gestation and <32 weeks gestation did not differ significantly (respectively 1.7% vs 0.8%; P=.66 and 8.26% vs 11.4%; P=.36). In the deferred selective termination group, an emergency procedure was performed in 11.3% (15/132) because of threatened preterm labor, of which 3.7% (5/132) for imminent delivery. CONCLUSION: Overall survival after selective termination was high regardless of the gestational age at which the procedure was performed. Postponing selective termination until the third trimester seems to improve survival, whereas immediate selective termination reduces the risk of preterm delivery. Furthermore, deferred selective termination requires an expert center capable of performing the selective termination procedure on an emergency basis if required.

Prenatal Diagnosis of Primrose Syndrome.

Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.

Cervical Dilators Used Concurrently With Misoprostol to Shorten Labor in Second-Trimester Termination of Pregnancy: A Randomized Controlled Trial.

OBJECTIVE: To evaluate the use of cervical dilators concurrently with misoprostol to shorten labor in second-trimester medical termination of pregnancy. METHODS: This multicenter randomized controlled trial compared the efficacy of cervical dilators inserted concurrently with misoprostol with that of misoprostol, alone, to shorten labor for women undergoing termination of pregnancy between 15 0/7 and 27 6/7 weeks of gestation. The primary outcome was the proportion of women with a duration of labor exceeding 12 hours. Secondary outcomes included median duration of labor, time to amniotomy, side effects, complications, NPRS (Numeric Pain Rating Scale) score, and women's distress as measured by the IES-R (Impact of Event Scale-Revised). These outcomes also were studied separately in the nulliparous subgroup. To demonstrate a reduction of 50% of the proportion of women with a duration of labor exceeding 12 hours in the dilator group, with a power of 80% and a 2-sided 0.05 significance level, a sample of 268 women (134 in each group) was required. RESULTS: Between December 2017 and September 2019, this study enrolled and analyzed 347 women: 174 in the dilator group and 173 in the control group, including 87 and 93 nulliparous patients, respectively. Sociodemographic and obstetric characteristics were similar between groups. The proportion of women with labor exceeding 12 hours was not different between groups (49/174 [28.2%] in the dilator group vs 53/173 [30.6%] in the control group [ P =.61] for the whole population, and 37/87 [42.5%] vs 42/93 [45.2%] [ P =.72], respectively, among nulliparous patients). Median duration of labor was 8.5 hours in the dilator group compared with 9.2 hours in the control group ( P =.65) for the whole population, and 10.5 hours compared with 11.8 hours, respectively, among nulliparous patients ( P =.33). Median time to amniotomy was 3.6 hours in the dilator group compared with 5.0 hours in the control group ( P =.08) for the whole population, and 3.5 hours compared with 6.7 hours, respectively, among nulliparous patients ( P =.003). Side effects, complications, NPRS score, and IES-R score were similar between groups. CONCLUSION: Cervical dilators inserted concurrently with misoprostol did not reduce the proportion of women whose labor exceeded 12 hours compared with misoprostol alone. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov , NCT03194230.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

OBJECTIVES: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications. METHODS: A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs(TM) and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. RESULTS: The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs(TM) in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. CONCLUSIONS: The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

Measurement of placental perfusion by dynamic contrast-enhanced MRI at 4.7 T.

PURPOSE: The purposes of this study were to develop quantitative dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) at 4.7 T for perfusion measurement and to evaluate the ability of this technique to distinguish between low and normal levels of placental perfusion in a controlled rat model. MATERIALS AND METHODS: This study was approved by the animal care committee. Poor placental perfusion in the left uterine horn was achieved by ligation of the left uterine vascular pedicle on the 17th embryonic day in 12 pregnant rats. High-temporal resolution DCE-MRI (<1 second) was performed on the 19th embryonic day. Single-compartment analysis was used to calculate placental blood flow (F), volume fraction (Vb), and time delay (Dt) for each placenta and its 2 layers in both uterine horns. Mixed regression analysis was used to compare parameters between the ligated and nonligated horn and between placental layers. RESULTS: We examined 53 placentas: 11 on the ligated side and 42 on the control side. On the control side, the mean (SD) values were 115 (72) mL/min per 100 mL for F, 38.6% (11.7%) for Vb, and 5.5 (5.3) seconds for Dt. Placental blood flow was significantly lower on the ligated side (66 [30] mL/min per 100 mL; P = 0.001).Placental blood flow and Vb were significantly higher, whereas Dt was significantly lower in the inner layer than in the outer layer in both horns (P=0.0001). CONCLUSIONS: Quantitative analyses of perfusion are feasible with DCE-MRI at 4.7 T.Dynamic contrast-enhanced magnetic resonance imaging can differentiate between low and normal levels of placental perfusion in a rat model. Dynamic contrast-enhanced magnetic resonance imaging at 4.7 T is a promising preclinical tool for quantifying and monitoring microvascularization.

Timing of delivery following selective laser photocoagulation for twin-to-twin transfusion syndrome.

OBJECTIVE: We sought to compare intrauterine risks with postnatal outcome in monochorionic pregnancies operated by fetoscopic laser surgery for twin-to-twin transfusion syndrome. STUDY DESIGN: A cohort of 602 consecutive cases was analyzed. Unexpected prenatal adverse events were identified when a fatal or potentially fatal event occurred that could have been avoided by timely delivery. RESULTS: The prospective risk of an unexpected adverse event dropped from 16.8% (95% confidence interval [CI], 13.6-20.5%) to 0% (95% CI, 0-11%) between 26-36 weeks. At 32 weeks, the residual risk was 1 in 17 (95% CI, 1/28-1/11). The perinatal rate of death or severe brain lesions dropped from 35% (25-47%) in infants delivered at 26-28 weeks down to 3% (1-6%) at 34-36 weeks. CONCLUSION: Our results did not identify an optimal cut-off for elective preterm delivery in laser-operated twin-to-twin transfusion syndrome. Perinatal morbidity appears low from ≥32 weeks and the decision for elective delivery should be based upon medical history, parental demand, and expert assessment.